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

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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:2567
Description: Enables identical protein binding activity and molecular adaptor activity. Involved in cilium assembly. Located in centriole; centrosome; and cilium. Is active in 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
Previously known as: 71-7A; centriole and centriolar satellite protein OFD1; 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 Orthologs
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
GRCh38X13,714,505 - 13,773,738 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX13,734,743 - 13,777,955 (+)EnsemblGRCh38hg38GRCh38
GRCh37X13,752,867 - 13,787,476 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X13,662,801 - 13,697,393 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X13,512,536 - 13,547,127NCBI
CeleraX17,869,913 - 17,904,562 (+)NCBICelera
Cytogenetic MapXp22.2NCBI
HuRefX11,510,937 - 11,544,940 (+)NCBIHuRef
CHM1_1X13,783,650 - 13,818,298 (+)NCBICHM1_1
T2T-CHM13v2.0X13,295,911 - 13,355,418 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
centriolar satellite  (IEA,ISS)
centriole  (IDA,IEA)
centrosome  (IBA,IDA)
ciliary basal body  (IBA,IDA,IEA)
cilium  (IDA,IEA)
cytoplasm  (IEA)
cytoskeleton  (IEA)
cytosol  (TAS)
extracellular region  (IEA)
membrane  (HDA,IEA)
microtubule cytoskeleton  (IDA)
motile cilium  (IBA)
nucleus  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal atrial arrangement  (IAGP)
Abnormal cardiovascular system morphology  (IAGP)
Abnormal cortical gyration  (IAGP)
Abnormal dental enamel morphology  (IAGP)
Abnormal electroretinogram  (IAGP)
Abnormal form of the vertebral bodies  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal inferior vena cava morphology  (IAGP)
Abnormal nail morphology  (IAGP)
Abnormal oral frenulum morphology  (IAGP)
Abnormal pattern of respiration  (IAGP)
Abnormal retinal vascular morphology  (IAGP)
Abnormal skull morphology  (IAGP)
Abnormal sperm motility  (IAGP)
Abnormal sputum  (IAGP)
Abnormal testis morphology  (IAGP)
Abnormality of neuronal migration  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the face  (IAGP)
Abnormality of the genitourinary system  (IAGP)
Abnormality of the hypothalamus-pituitary axis  (IAGP)
Abnormality of the pancreas  (IAGP)
Abnormality of the skeletal system  (IAGP)
Absent foveal reflex  (IAGP)
Absent speech  (IAGP)
Accessory oral frenulum  (IAGP)
Aganglionic megacolon  (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)
Ankyloglossia  (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)
Attenuation of retinal blood vessels  (IAGP)
Autism  (IAGP)
Bifid nail  (IAGP)
Bifid tongue  (IAGP)
Bilateral cryptorchidism  (IAGP)
Biparietal narrowing  (IAGP)
Blindness  (IAGP)
Bone spicule pigmentation of the retina  (IAGP)
Brachydactyly  (IAGP)
Brittle hair  (IAGP)
Broad alveolar ridges  (IAGP)
Broad nasal tip  (IAGP)
Broad thumb  (IAGP)
Bronchiectasis  (IAGP)
Carious teeth  (IAGP)
Central Y-shaped metacarpal  (IAGP)
Cerebellar cyst  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Cerebral atrophy  (IAGP)
Childhood onset  (IAGP)
Choanal atresia  (IAGP)
Chronic otitis media  (IAGP)
Chronic rhinitis  (IAGP)
Chronic sinusitis  (IAGP)
Ciliary dyskinesia  (IAGP)
Cleft palate  (IAGP)
Cleft upper lip  (IAGP)
Clinodactyly  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Clubbing  (IAGP)
Coarse hair  (IAGP)
Color vision defect  (IAGP)
Conductive hearing impairment  (IAGP)
Cone-shaped epiphysis  (IAGP)
Congenital onset  (IAGP)
Constriction of peripheral visual field  (IAGP)
Dandy-Walker malformation  (IAGP)
Decreased body weight  (IAGP)
Deep philtrum  (IAGP)
Delayed speech and language development  (IAGP)
Deviation of finger  (IAGP)
Dolichocephaly  (IAGP)
Double outlet right ventricle  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dry hair  (IAGP)
Dry skin  (IAGP)
Dysmetria  (IAGP)
Dystonia  (IAGP)
Eccentric visual fixation  (IAGP)
Ectopic pregnancy  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Enamel hypoplasia  (IAGP)
Encephalocele  (IAGP)
Enlarged cisterna magna  (IAGP)
Epicanthus  (IAGP)
Episodic tachypnea  (IAGP)
Esotropia  (IAGP)
Exocrine pancreatic insufficiency  (IAGP)
Facial asymmetry  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties in infancy  (IAGP)
Female infertility  (IAGP)
Finger clinodactyly  (IAGP)
Finger syndactyly  (IAGP)
Foot polydactyly  (IAGP)
Frequent temper tantrums  (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)
Hyperinsulinemia  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypertension  (IAGP)
Hypodontia  (IAGP)
Hypogonadism  (IAGP)
Hypoplasia of olfactory tract  (IAGP)
Hypoplasia of the zygomatic bone  (IAGP)
Hypothalamic hamartoma  (IAGP)
Hypotonia  (IAGP)
Infantile onset  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, profound  (IAGP)
Intellectual disability, severe  (IAGP)
Intestinal malrotation  (IAGP)
Iris coloboma  (IAGP)
Juvenile onset  (IAGP)
Keratoconus  (IAGP)
Lip pit  (IAGP)
Lithoptysis  (IAGP)
Lobulated tongue  (IAGP)
Long face  (IAGP)
Low-set ears  (IAGP)
Macrocephaly  (IAGP)
Male infertility  (IAGP)
Maturity-onset diabetes of the young  (IAGP)
Median cleft upper lip  (IAGP)
Mesoaxial polydactyly  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Microretrognathia  (IAGP)
Midline notch of upper alveolar ridge  (IAGP)
Mild myopia  (IAGP)
Milia  (IAGP)
Molar tooth sign on MRI  (IAGP)
Morphological central nervous system abnormality  (IAGP)
Motor delay  (IAGP)
Multicystic kidney dysplasia  (IAGP)
Myelomeningocele  (IAGP)
Nasal congestion  (IAGP)
Nasal polyposis  (IAGP)
Neonatal respiratory distress  (IAGP)
Nyctalopia  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Oculomotor apraxia  (IAGP)
Odontogenic neoplasm  (IAGP)
Open bite  (IAGP)
Ophthalmoplegia  (IAGP)
Optic atrophy  (IAGP)
Optic disc pallor  (IAGP)
Orofacial cleft  (IAGP)
Ovarian cyst  (IAGP)
Pancreatic cysts  (IAGP)
Peribronchovascular interstitial thickening  (IAGP)
Peripheral visual field loss  (IAGP)
Persistent left superior vena cava  (IAGP)
Photophobia  (IAGP)
Photopsia  (IAGP)
Polycystic kidney dysplasia  (IAGP)
Polydactyly  (IAGP)
Polyhydramnios  (IAGP)
Polymicrogyria  (IAGP)
Polyphagia  (IAGP)
Polysplenia  (IAGP)
Porencephalic cyst  (IAGP)
Postaxial foot polydactyly  (IAGP)
Postaxial hand 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)
Ptosis  (IAGP)
Pulmonary situs ambiguus  (IAGP)
Radial deviation of finger  (IAGP)
Recurrent fever  (IAGP)
Recurrent infections  (IAGP)
Recurrent lower respiratory tract infections  (IAGP)
Recurrent mycobacterial infections  (IAGP)
Recurrent otitis media  (IAGP)
Recurrent respiratory infections  (IAGP)
Recurrent sinopulmonary infections  (IAGP)
Recurrent upper respiratory tract infections  (IAGP)
Reduced bone mineral density  (IAGP)
Renal agenesis  (IAGP)
Renal hypoplasia/aplasia  (IAGP)
Renal insufficiency  (IAGP)
Respiratory failure  (IAGP)
Respiratory tract infection  (IAGP)
Retinal degeneration  (IAGP)
Retinal dystrophy  (IAGP)
Retinal pigment epithelial atrophy  (IAGP)
Ridged nail  (IAGP)
Rod-cone dystrophy  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severely reduced visual acuity  (IAGP)
Short 2nd toe  (IAGP)
Short finger  (IAGP)
Short stature  (IAGP)
Short toe  (IAGP)
Situs inversus totalis  (IAGP)
Sparse hair  (IAGP)
Strabismus  (IAGP)
Supernumerary tooth  (IAGP)
Syndactyly  (IAGP)
Tarsal synostosis  (IAGP)
Telecanthus  (IAGP)
Thick vermilion border  (IAGP)
Thin upper lip vermilion  (IAGP)
Tongue nodules  (IAGP)
Transposition of the great arteries  (IAGP)
Tremor  (IAGP)
Tube feeding  (IAGP)
Underdeveloped nasal alae  (IAGP)
Vascular dilatation  (IAGP)
Ventriculomegaly  (IAGP)
Visual impairment  (IAGP)
Wheezing  (IAGP)
Wide nasal bridge  (IAGP)
X-linked dominant inheritance  (IAGP)
X-linked recessive inheritance  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability. Bisschoff IJ, etal., Hum Mutat. 2013 Jan;34(1):237-47. doi: 10.1002/humu.22224. Epub 2012 Oct 17.
2. A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. Budny B, etal., Hum Genet. 2006 Sep;120(2):171-8. Epub 2006 Jun 17.
3. OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Coene KL, etal., Am J Hum Genet. 2009 Oct;85(4):465-81. doi: 10.1016/j.ajhg.2009.09.002.
4. A novel mutation in the OFD1 (Cxorf5) gene may contribute to oral phenotype in patients with oral-facial-digital syndrome type 1. Diz P, etal., Oral Dis. 2011 Sep;17(6):610-4. doi: 10.1111/j.1601-0825.2011.01823.x. Epub 2011 Jul 6.
5. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
6. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
7. Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1. Rakkolainen A, etal., J Med Genet. 2002 Apr;39(4):292-6.
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
11. Buccal anomalies, cephalometric analysis and genetic study of two sisters with orofaciodigital syndrome type I. Romero M, etal., Cleft Palate Craniofac J. 2007 Nov;44(6):660-6. doi: 10.1597/06-225.1.
12. Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study. Thauvin-Robinet C, etal., J Med Genet. 2006 Jan;43(1):54-61.
13. OFD1, as a Ciliary Protein, Exhibits Neuroprotective Function in Photoreceptor Degeneration Models. Wang J, etal., PLoS One. 2016 May 19;11(5):e0155860. doi: 10.1371/journal.pone.0155860. eCollection 2016.
14. Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23). Webb TR, etal., Hum Mol Genet. 2012 Aug 15;21(16):3647-54. doi: 10.1093/hmg/dds194. Epub 2012 May 22.
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:29778605   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:32677760   PMID:32908313   PMID:32944789   PMID:33060197   PMID:33368531   PMID:33934390   PMID:33957083   PMID:33961781   PMID:34011540   PMID:34079125  
PMID:34226595   PMID:34241634   PMID:34941261   PMID:35013218   PMID:35140242   PMID:35182466   PMID:35271311   PMID:35748872   PMID:36674791   PMID:36779422   PMID:36931259   PMID:37689310  
PMID:38139355  


Genomics

Comparative Map Data
OFD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X13,714,505 - 13,773,738 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX13,734,743 - 13,777,955 (+)EnsemblGRCh38hg38GRCh38
GRCh37X13,752,867 - 13,787,476 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X13,662,801 - 13,697,393 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X13,512,536 - 13,547,127NCBI
CeleraX17,869,913 - 17,904,562 (+)NCBICelera
Cytogenetic MapXp22.2NCBI
HuRefX11,510,937 - 11,544,940 (+)NCBIHuRef
CHM1_1X13,783,650 - 13,818,298 (+)NCBICHM1_1
T2T-CHM13v2.0X13,295,911 - 13,355,418 (+)NCBIT2T-CHM13v2.0
Ofd1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X165,171,503 - 165,223,704 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX165,173,029 - 165,223,700 (-)EnsemblGRCm39 Ensembl
GRCm38X166,386,573 - 166,440,704 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX166,390,033 - 166,440,704 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X162,827,965 - 162,878,636 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X161,735,041 - 161,784,660 (-)NCBIMGSCv36mm8
CeleraX149,569,705 - 149,620,495 (-)NCBICelera
Cytogenetic MapXF5NCBI
cM MapX77.28NCBI
Ofd1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X31,647,000 - 31,687,768 (+)NCBIGRCr8
mRatBN7.2X28,015,347 - 28,056,115 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX28,015,347 - 28,056,110 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX29,049,925 - 29,090,559 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X32,485,025 - 32,525,793 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X28,664,565 - 28,705,199 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X29,562,165 - 29,602,934 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX29,562,165 - 29,602,925 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X29,955,456 - 29,996,224 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X48,701,675 - 48,742,443 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
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
NHGRI_mPanPan1-v2X15,468,675 - 15,552,455 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X15,472,486 - 15,552,078 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X6,296,597 - 6,376,197 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X13,630,006 - 13,669,285 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX13,611,304 - 13,664,512 (+)Ensemblpanpan1.1panPan2
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 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X10,098,262 - 10,152,653 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX10,092,106 - 10,152,605 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X10,166,885 - 10,220,990 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X10,158,225 - 10,212,581 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X10,184,578 - 10,238,702 (+)NCBIUU_Cfam_GSD_1.0
Ofd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X3,292,935 - 3,331,915 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364703,292,249 - 3,331,800 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
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 - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X12,222,396 - 12,256,802 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX12,222,760 - 12,256,557 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605614,039,780 - 14,076,648 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ofd1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624882376,556 - 416,509 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624882376,447 - 417,066 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in OFD1
867 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003611.3(OFD1):c.1634A>G (p.Gln545Arg) single nucleotide variant Familial aplasia of the vermis [RCV002527503]|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 Familial aplasia of the vermis [RCV002514145]|Orofaciodigital syndrome I [RCV000033955]|not provided [RCV001781339] ChrX:13753411 [GRCh38]
ChrX:13771530 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_003611.3(OFD1):c.1100G>A (p.Arg367Gln) single nucleotide variant Familial aplasia of the vermis [RCV001852686]|Orofaciodigital syndrome I [RCV000033956]|not specified [RCV003317054] ChrX:13753412 [GRCh38]
ChrX:13771531 [GRCh37]
ChrX:Xp22.2		 pathogenic|uncertain significance
NM_003611.3(OFD1):c.111+2T>C single nucleotide variant 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.1193_1196del (p.Gln398fs) microsatellite Orofaciodigital syndrome I [RCV002504861]|Orofaciodigital syndrome I [RCV003493420]|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 Familial aplasia of the vermis [RCV001383219]|Orofaciodigital syndrome I [RCV002496509] ChrX:13736487 [GRCh38]
ChrX:13754606 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_003611.3(OFD1):c.1220_1221+1del deletion Familial aplasia of the vermis [RCV003050589] ChrX:13755240..13755242 [GRCh38]
ChrX:13773359..13773361 [GRCh37]
ChrX:Xp22.2		 pathogenic|likely 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.1268_1272del (p.Gln423fs) microsatellite OFD1-related disorder [RCV004531568] 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 not provided [RCV002510185] 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 Familial aplasia of the vermis [RCV000206456]|Orofaciodigital syndrome I [RCV002504862]|Primary ciliary dyskinesia [RCV004018727]|not provided [RCV001529335]|not specified [RCV000080341] ChrX:13760383 [GRCh38]
ChrX:13778502 [GRCh37]
ChrX:Xp22.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_003611.3(OFD1):c.1979_1980del (p.Ser660fs) microsatellite 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 Familial aplasia of the vermis [RCV000687996]|not provided [RCV004696645] ChrX:13736626 [GRCh38]
ChrX:13754745 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_003611.3(OFD1):c.274T>C (p.Ser92Pro) single nucleotide variant not provided [RCV004702073] ChrX:13736640 [GRCh38]
ChrX:13754759 [GRCh37]
ChrX:Xp22.2		 pathogenic|likely 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_003611.3(OFD1):c.384_412+2del deletion Orofaciodigital syndrome I [RCV000034013] ChrX:13739000..13739030 [GRCh38]
ChrX:13757119..13757149 [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 Familial aplasia of the vermis [RCV001045035]|Joubert syndrome 10 [RCV000590449]|Orofaciodigital syndrome I [RCV000850574]|Orofaciodigital syndrome I [RCV002482946]|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]|not provided [RCV004700301] 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.616_617del (p.Glu206fs) microsatellite Familial aplasia of the vermis [RCV003041423]|not provided [RCV003232781] 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 COACH syndrome [RCV002463622]|Familial aplasia of the vermis [RCV000701027]|OFD1-related disorder [RCV004737169] ChrX:13746827 [GRCh38]
ChrX:13764946 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_003611.3(OFD1):c.710dup (p.Tyr238fs) duplication OFD1-related disorder [RCV004737170]|Orofaciodigital syndrome I [RCV002272036]|Orofaciodigital syndrome I [RCV002482947]|not provided [RCV001594819] 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 [RCV002290162] 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.877_878del (p.Met293fs) microsatellite Familial aplasia of the vermis [RCV001852687]|Orofaciodigital syndrome I [RCV000034052]|not provided [RCV000522417] ChrX:13749473..13749474 [GRCh38]
ChrX:13767592..13767593 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_003611.3(OFD1):c.898_899dup (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 not provided [RCV001707513] 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 Orofaciodigital syndrome I [RCV002493307]|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 Orofaciodigital syndrome I [RCV002507280]|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 Familial aplasia of the vermis [RCV001862128]|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 Familial aplasia of the vermis [RCV000551104] ChrX:13746830 [GRCh38]
ChrX:13764949 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.2025G>T (p.Leu675Phe) single nucleotide variant Familial aplasia of the vermis [RCV000545002]|Primary ciliary dyskinesia [RCV004023911] ChrX:13760485 [GRCh38]
ChrX:13778604 [GRCh37]
ChrX:Xp22.2		 benign|uncertain significance
NC_000023.11:g.(?_13735052)_(13744539_?)del deletion Familial aplasia of the vermis [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 Familial aplasia of the vermis [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] ChrX:13746806..13746823 [GRCh38]
ChrX:13764925..13764942 [GRCh37]
ChrX:Xp22.2		 pathogenic|likely 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_003611.3(OFD1):c.312+1del 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 Familial aplasia of the vermis [RCV001516878]|Joubert syndrome 10 [RCV001787884]|Orofaciodigital syndrome I [RCV001787882]|Retinitis pigmentosa 23 [RCV001787885]|Simpson-Golabi-Behmel syndrome type 2 [RCV001787883]|not provided [RCV001682772]|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 Familial aplasia of the vermis [RCV001518323]|Primary ciliary dyskinesia [RCV004019554]|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.950A>G (p.Gln317Arg) single nucleotide variant Peripheral precocious puberty [RCV001374432] ChrX:13751263 [GRCh38]
ChrX:13769382 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.2052C>G (p.Ser684=) single nucleotide variant Familial aplasia of the vermis [RCV000559679]|Primary ciliary dyskinesia [RCV004020076]|not provided [RCV001795293]|not specified [RCV000175045] ChrX:13760512 [GRCh38]
ChrX:13778631 [GRCh37]
ChrX:Xp22.2		 benign|likely 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.2789_2793del (p.Ile930fs) microsatellite Familial aplasia of the vermis [RCV000688416]|Inborn genetic diseases [RCV000190791]|Primary ciliary dyskinesia [RCV001849335] ChrX:13768080..13768084 [GRCh38]
ChrX:13786199..13786203 [GRCh37]
ChrX:Xp22.2		 pathogenic|likely pathogenic
NM_003611.3(OFD1):c.1246del (p.Gln416fs) deletion Orofacial-digital syndrome III [RCV000256422]|Orofaciodigital syndrome I [RCV004760471] 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 anomaly of kidney and urinary tract [RCV001254710]|Familial aplasia of the vermis [RCV001088503]|OFD1-related disorder [RCV004535188]|not provided [RCV000173783] ChrX:13751247 [GRCh38]
ChrX:13769366 [GRCh37]
ChrX:Xp22.2		 benign|likely 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 Familial aplasia of the vermis [RCV001383220]|Joubert syndrome 10 [RCV000201562]|Retinal dystrophy [RCV003888641]|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 Familial aplasia of the vermis [RCV001852128]|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 Familial aplasia of the vermis [RCV000476529]|Primary ciliary dyskinesia [RCV004019770]|not provided [RCV004713380]|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 Familial aplasia of the vermis [RCV001088416]|Primary ciliary dyskinesia [RCV004019771]|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 Familial aplasia of the vermis [RCV000469882]|OFD1-related disorder [RCV004532659]|not provided [RCV001668294]|not specified [RCV000378495] ChrX:13758456 [GRCh38]
ChrX:13776575 [GRCh37]
ChrX:Xp22.2		 benign|likely benign|uncertain significance
NM_003611.3(OFD1):c.2033C>G (p.Ala678Gly) single nucleotide variant Familial aplasia of the vermis [RCV001088497]|Primary ciliary dyskinesia [RCV004019772]|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 Familial aplasia of the vermis [RCV000456906]|Primary ciliary dyskinesia [RCV004019773]|not provided [RCV004713381]|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 Familial aplasia of the vermis [RCV000205304]|Primary ciliary dyskinesia [RCV004019774]|Retinal dystrophy [RCV003888577]|not provided [RCV001577681]|not specified [RCV000146983] ChrX:13761200 [GRCh38]
ChrX:13779319 [GRCh37]
ChrX:Xp22.2		 benign|likely benign
NM_003611.3(OFD1):c.2387+11C>T single nucleotide variant Familial aplasia of the vermis [RCV001512114]|not provided [RCV001699127]|not specified [RCV000146984] ChrX:13761222 [GRCh38]
ChrX:13779341 [GRCh37]
ChrX:Xp22.2		 benign|likely benign
NM_003611.3(OFD1):c.2663A>C (p.Lys888Thr) single nucleotide variant Familial aplasia of the vermis [RCV000477252]|Orofaciodigital syndrome I [RCV002492533]|Primary ciliary dyskinesia [RCV004019775]|not provided [RCV001689688]|not specified [RCV000146985] ChrX:13767190 [GRCh38]
ChrX:13785309 [GRCh37]
ChrX:Xp22.2		 benign|likely benign
NM_003611.3(OFD1):c.714T>C (p.Tyr238=) single nucleotide variant Familial aplasia of the vermis [RCV000230007]|Orofaciodigital syndrome I [RCV002478409]|Primary ciliary dyskinesia [RCV004019776]|not provided [RCV001727597]|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 Familial aplasia of the vermis [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 Familial aplasia of the vermis [RCV000168046]|OFD1-related disorder [RCV004539569]|Orofaciodigital syndrome I [RCV002498832]|Primary ciliary dyskinesia [RCV004020001]|not provided [RCV003436963]|not specified [RCV001818402] ChrX:13756650 [GRCh38]
ChrX:13774769 [GRCh37]
ChrX:Xp22.2		 benign|likely benign|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 Familial aplasia of the vermis [RCV002054273]|not specified [RCV000192458] ChrX:13757717 [GRCh38]
ChrX:13775836 [GRCh37]
ChrX:Xp22.2		 benign|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 provided [RCV001682911]|not specified [RCV000194256] ChrX:13735111 [GRCh38]
ChrX:13753230 [GRCh37]
ChrX:Xp22.2		 benign|likely benign
NM_003611.3(OFD1):c.2584T>G (p.Ser862Ala) single nucleotide variant Familial aplasia of the vermis [RCV001223911]|Orofaciodigital syndrome I [RCV002485287]|Primary ciliary dyskinesia [RCV004020331]|not specified [RCV000192398] ChrX:13763840 [GRCh38]
ChrX:13781959 [GRCh37]
ChrX:Xp22.2		 likely benign|uncertain significance
NM_003611.3(OFD1):c.1399C>A (p.Arg467Ser) single nucleotide variant Familial aplasia of the vermis [RCV000196961]|Primary ciliary dyskinesia [RCV004020473] 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 Primary ciliary dyskinesia [RCV004020332]|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 Primary ciliary dyskinesia [RCV004020333]|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 Familial aplasia of the vermis [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 Familial aplasia of the vermis [RCV001307208]|Joubert syndrome 10 [RCV000201618]|not provided [RCV002307444] 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 Familial aplasia of the vermis [RCV002057049]|Primary ciliary dyskinesia [RCV004020507] ChrX:13738888 [GRCh38]
ChrX:13757007 [GRCh37]
ChrX:Xp22.2		 likely benign|uncertain significance
NM_003611.3(OFD1):c.1007dup (p.Ser337fs) duplication Familial aplasia of the vermis [RCV000204073]|Primary ciliary dyskinesia [RCV004020523]|Simpson-Golabi-Behmel syndrome type 2 [RCV002247632]|not provided [RCV000487403]|not specified [RCV004586624] ChrX:13751317..13751318 [GRCh38]
ChrX:13769436..13769437 [GRCh37]
ChrX:Xp22.2		 pathogenic|likely benign|uncertain significance
NM_003611.3(OFD1):c.1698C>T (p.Ile566=) single nucleotide variant Familial aplasia of the vermis [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 Familial aplasia of the vermis [RCV000697743] ChrX:13760657 [GRCh38]
ChrX:13778776 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.2139C>T (p.Val713=) single nucleotide variant Familial aplasia of the vermis [RCV001450116]|not provided [RCV001701164] ChrX:13760599 [GRCh38]
ChrX:13778718 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.1427C>T (p.Ala476Val) single nucleotide variant Familial aplasia of the vermis [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 Familial aplasia of the vermis [RCV000232480]|Primary ciliary dyskinesia [RCV004020799]|not provided [RCV001610540]|not specified [RCV000367692] ChrX:13760504 [GRCh38]
ChrX:13778623 [GRCh37]
ChrX:Xp22.2		 benign|uncertain significance
NM_003611.2(OFD1):c.-359-?_*253+?dup duplication Familial aplasia of the vermis [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 Familial aplasia of the vermis [RCV002058141]|not provided [RCV001618430]|not specified [RCV000253319] ChrX:13760728 [GRCh38]
ChrX:13778847 [GRCh37]
ChrX:Xp22.2		 benign|likely benign
NM_003611.3(OFD1):c.517+20T>C single nucleotide variant Familial aplasia of the vermis [RCV001511523]|not provided [RCV001699415]|not specified [RCV000246438] ChrX:13744539 [GRCh38]
ChrX:13762658 [GRCh37]
ChrX:Xp22.2		 benign|likely benign
NM_003611.3(OFD1):c.1654+14T>A single nucleotide variant Familial aplasia of the vermis [RCV001516891]|Orofaciodigital syndrome I [RCV002487127]|not specified [RCV000248772] ChrX:13758462 [GRCh38]
ChrX:13776581 [GRCh37]
ChrX:Xp22.2		 benign|likely benign
NM_003611.3(OFD1):c.1543-19C>G single nucleotide variant Familial aplasia of the vermis [RCV002058140]|not provided [RCV001550495]|not specified [RCV000244006] ChrX:13758318 [GRCh38]
ChrX:13776437 [GRCh37]
ChrX:Xp22.2		 benign|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 not provided [RCV003480403] ChrX:13744424 [GRCh38]
ChrX:13762543 [GRCh37]
ChrX:Xp22.2		 pathogenic|uncertain significance
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.508_509del (p.Asp170fs) microsatellite not provided [RCV003223927] 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 Familial aplasia of the vermis [RCV002058142]|not specified [RCV000242924] ChrX:13746800 [GRCh38]
ChrX:13764919 [GRCh37]
ChrX:Xp22.2		 benign|likely benign
NM_003611.3(OFD1):c.2929-18C>T single nucleotide variant Familial aplasia of the vermis [RCV001516950]|Orofaciodigital syndrome I [RCV002479967]|not provided [RCV000514293]|not specified [RCV000248221] ChrX:13768700 [GRCh38]
ChrX:13786819 [GRCh37]
ChrX:Xp22.2		 benign|likely 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 Familial aplasia of the vermis [RCV001855070]|not provided [RCV000303408] ChrX:13751277 [GRCh38]
ChrX:13769396 [GRCh37]
ChrX:Xp22.2		 pathogenic|uncertain significance
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 Familial aplasia of the vermis [RCV001859639]|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 Familial aplasia of the vermis [RCV002059241]|OFD1-related disorder [RCV004535414]|Primary ciliary dyskinesia [RCV004021254]|not provided [RCV000334639] ChrX:13736642 [GRCh38]
ChrX:13754761 [GRCh37]
ChrX:Xp22.2		 benign|likely benign|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.2388-188A>T single nucleotide variant not provided [RCV001564620] ChrX:13762156 [GRCh38]
ChrX:13780275 [GRCh37]
ChrX:Xp22.2		 likely benign
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.1464A>G (p.Lys488=) single nucleotide variant not provided [RCV002280285] ChrX:13757712 [GRCh38]
ChrX:13775831 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.2758-53A>C single nucleotide variant not provided [RCV001567255] ChrX:13768001 [GRCh38]
ChrX:13786120 [GRCh37]
ChrX:Xp22.2		 likely benign
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 Familial aplasia of the vermis [RCV000638944] ChrX:13746873 [GRCh38]
ChrX:13764992 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_003611.3(OFD1):c.2524G>A (p.Gly842Arg) single nucleotide variant Familial aplasia of the vermis [RCV000638948]|Primary ciliary dyskinesia [RCV004025535]|Retinal dystrophy [RCV003889940]|not provided [RCV001709677] ChrX:13763780 [GRCh38]
ChrX:13781899 [GRCh37]
ChrX:Xp22.2		 benign|likely benign
NM_003611.3(OFD1):c.1468G>A (p.Glu490Lys) single nucleotide variant Familial aplasia of the vermis [RCV000638946]|Orofaciodigital syndrome I [RCV002483822] ChrX:13757716 [GRCh38]
ChrX:13775835 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.892G>A (p.Gly298Arg) single nucleotide variant Familial aplasia of the vermis [RCV000638947]|OFD1-related disorder [RCV004737917]|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 Familial aplasia of the vermis [RCV000533164] ChrX:13761079 [GRCh38]
ChrX:13779198 [GRCh37]
ChrX:Xp22.2		 likely pathogenic
NM_003611.3(OFD1):c.1594G>A (p.Val532Ile) single nucleotide variant Familial aplasia of the vermis [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] ChrX:13769111 [GRCh38]
ChrX:13787230 [GRCh37]
ChrX:Xp22.2		 benign|likely benign
NM_003611.3(OFD1):c.2060C>T (p.Pro687Leu) single nucleotide variant Familial aplasia of the vermis [RCV000638949]|History of neurodevelopmental disorder [RCV000721041]|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 Familial aplasia of the vermis [RCV000462916]|Orofaciodigital syndrome I [RCV002496795]|Primary ciliary dyskinesia [RCV004022918]|not provided [RCV001703176]|not specified [RCV001701011] ChrX:13760154 [GRCh38]
ChrX:13778273 [GRCh37]
ChrX:Xp22.2		 benign|likely benign
NM_003611.3(OFD1):c.89G>A (p.Arg30Gln) single nucleotide variant Familial aplasia of the vermis [RCV000462979]|not provided [RCV002272238] ChrX:13735324 [GRCh38]
ChrX:13753443 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.3011C>G (p.Ser1004Cys) single nucleotide variant Familial aplasia of the vermis [RCV000475025] ChrX:13769080 [GRCh38]
ChrX:13787199 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.610A>G (p.Lys204Glu) single nucleotide variant Familial aplasia of the vermis [RCV000471555] ChrX:13746411 [GRCh38]
ChrX:13764530 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.1930C>T (p.Arg644Cys) single nucleotide variant Familial aplasia of the vermis [RCV001514898]|Primary ciliary dyskinesia [RCV004022919]|Retinal dystrophy [RCV003889903]|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 Familial aplasia of the vermis [RCV000456688] ChrX:13736561 [GRCh38]
ChrX:13754680 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.1730A>G (p.Asn577Ser) single nucleotide variant Familial aplasia of the vermis [RCV002056717]|OFD1-related disorder [RCV004539963]|Primary ciliary dyskinesia [RCV004022920]|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 Familial aplasia of the vermis [RCV000461906]|Primary ciliary dyskinesia [RCV004022548] ChrX:13760490 [GRCh38]
ChrX:13778609 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.2725C>T (p.Arg909Ter) single nucleotide variant Familial aplasia of the vermis [RCV000465580]|OFD1-related disorder [RCV002279956]|Orofaciodigital syndrome I [RCV003448310]|Primary ciliary dyskinesia [RCV003448908] ChrX:13767252 [GRCh38]
ChrX:13785371 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_003611.3(OFD1):c.2319A>G (p.Pro773=) single nucleotide variant Familial aplasia of the vermis [RCV001493396]|Retinal dystrophy [RCV003889902]|not provided [RCV003437211] ChrX:13761143 [GRCh38]
ChrX:13779262 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.282C>T (p.Phe94=) single nucleotide variant Familial aplasia of the vermis [RCV001497906]|Orofaciodigital syndrome I [RCV002506141] ChrX:13736648 [GRCh38]
ChrX:13754767 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.69A>G (p.Leu23=) single nucleotide variant Familial aplasia of the vermis [RCV001409830] 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 Familial aplasia of the vermis [RCV001865613]|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 provided [RCV001815336] ChrX:13758453 [GRCh38]
ChrX:13776572 [GRCh37]
ChrX:Xp22.2		 likely pathogenic|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 Familial aplasia of the vermis [RCV002056861]|Primary ciliary dyskinesia [RCV004023391]|not specified [RCV000500732] ChrX:13753414 [GRCh38]
ChrX:13771533 [GRCh37]
ChrX:Xp22.2		 benign|likely benign|uncertain significance
NM_003611.3(OFD1):c.2758-4A>G single nucleotide variant Primary ciliary dyskinesia [RCV004023390]|not specified [RCV000502971] ChrX:13768050 [GRCh38]
ChrX:13786169 [GRCh37]
ChrX:Xp22.2		 likely benign|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.538GAT[1] (p.Asp181del) microsatellite Joubert syndrome 10 [RCV003152713]|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 Joubert syndrome 10 [RCV003147509]|not provided [RCV000579002] ChrX:13751304 [GRCh38]
ChrX:13769423 [GRCh37]
ChrX:Xp22.2		 likely pathogenic|uncertain significance
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 Familial aplasia of the vermis [RCV000543354] ChrX:13735261 [GRCh38]
ChrX:13753380 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.2600-5A>G single nucleotide variant Familial aplasia of the vermis [RCV003767730]|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.681A>G (p.Ile227Met) single nucleotide variant Primary ciliary dyskinesia [RCV004305661] ChrX:13746806 [GRCh38]
ChrX:13764925 [GRCh37]
ChrX:Xp22.2		 uncertain significance
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 Familial aplasia of the vermis [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 Familial aplasia of the vermis [RCV000539558]|not provided [RCV001796104] ChrX:13758457 [GRCh38]
ChrX:13776576 [GRCh37]
ChrX:Xp22.2		 benign|likely benign
NC_000023.11:g.(?_13735052)_(13769128_?)del deletion Familial aplasia of the vermis [RCV000540926] ChrX:13735052..13769128 [GRCh38]
ChrX:Xp22.2		 pathogenic
NM_003611.3(OFD1):c.2398A>G (p.Arg800Gly) single nucleotide variant Familial aplasia of the vermis [RCV000863291]|OFD1-related disorder [RCV004544782]|Primary ciliary dyskinesia [RCV004024996]|not provided [RCV001719061] ChrX:13762354 [GRCh38]
ChrX:13780473 [GRCh37]
ChrX:Xp22.2		 benign|likely benign
NM_003611.3(OFD1):c.2488+13A>G single nucleotide variant Familial aplasia of the vermis [RCV002066839]|not specified [RCV000613504] ChrX:13762457 [GRCh38]
ChrX:13780576 [GRCh37]
ChrX:Xp22.2		 benign|likely benign
NM_003611.3(OFD1):c.1876G>C (p.Glu626Gln) single nucleotide variant Familial aplasia of the vermis [RCV000530056]|Primary ciliary dyskinesia [RCV004023910] ChrX:13760336 [GRCh38]
ChrX:13778455 [GRCh37]
ChrX:Xp22.2		 benign|likely 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 Familial aplasia of the vermis [RCV000863501]|not provided [RCV002263823]|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 Familial aplasia of the vermis [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 Polydactyly, postaxial, 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|conflicting interpretations of pathogenicity|uncertain significance
NM_003611.3(OFD1):c.1861C>T (p.Pro621Ser) single nucleotide variant OFD1-related disorder [RCV004533439]|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 Primary ciliary dyskinesia [RCV004026897] 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 Familial aplasia of the vermis [RCV002060889]|OFD1-related disorder [RCV004535766]|Primary ciliary dyskinesia [RCV004026820]|not provided [RCV000712459] ChrX:13749517 [GRCh38]
ChrX:13767636 [GRCh37]
ChrX:Xp22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003611.3(OFD1):c.2719A>G (p.Arg907Gly) single nucleotide variant Familial aplasia of the vermis [RCV000701171] ChrX:13767246 [GRCh38]
ChrX:13785365 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.2061G>A (p.Pro687=) single nucleotide variant Familial aplasia of the vermis [RCV001868347]|Primary ciliary dyskinesia [RCV004026868] ChrX:13760521 [GRCh38]
ChrX:13778640 [GRCh37]
ChrX:Xp22.2		 likely benign|uncertain significance
NM_003611.3(OFD1):c.1662G>A (p.Glu554=) single nucleotide variant Familial aplasia of the vermis [RCV002060909]|Primary ciliary dyskinesia [RCV004026861] ChrX:13760122 [GRCh38]
ChrX:13778241 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.324G>A (p.Met108Ile) single nucleotide variant Familial aplasia of the vermis [RCV000692393]|Orofaciodigital syndrome I [RCV000766073]|not provided [RCV003133533]|not specified [RCV003330905] ChrX:13738857 [GRCh38]
ChrX:13756976 [GRCh37]
ChrX:Xp22.2		 likely pathogenic|uncertain significance
NM_003611.3(OFD1):c.915_916del (p.Arg306fs) deletion Familial aplasia of the vermis [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 Familial aplasia of the vermis [RCV000688372]|Orofaciodigital syndrome I [RCV002493162]|not provided [RCV001662753] ChrX:13762438 [GRCh38]
ChrX:13780557 [GRCh37]
ChrX:Xp22.2		 benign|likely benign|uncertain significance
NM_003611.3(OFD1):c.2177G>A (p.Arg726His) single nucleotide variant Familial aplasia of the vermis [RCV000692033] ChrX:13760637 [GRCh38]
ChrX:13778756 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.312+1G>T single nucleotide variant Familial aplasia of the vermis [RCV000706155] ChrX:13736679 [GRCh38]
ChrX:13754798 [GRCh37]
ChrX:Xp22.2		 likely pathogenic
NM_003611.3(OFD1):c.1313C>G (p.Ser438Ter) single nucleotide variant Familial aplasia of the vermis [RCV000706240] ChrX:13756669 [GRCh38]
ChrX:13774788 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_003611.3(OFD1):c.2297G>T (p.Cys766Phe) single nucleotide variant Orofaciodigital syndrome I [RCV002485803]|Primary ciliary dyskinesia [RCV004026859] ChrX:13761121 [GRCh38]
ChrX:13779240 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.2074T>A (p.Phe692Ile) single nucleotide variant Primary ciliary dyskinesia [RCV004026871] ChrX:13760534 [GRCh38]
ChrX:13778653 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.2192C>T (p.Ser731Phe) single nucleotide variant Familial aplasia of the vermis [RCV002060911]|Primary ciliary dyskinesia [RCV004026864] 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 Familial aplasia of the vermis [RCV002060922]|OFD1-related disorder [RCV004535787]|Primary ciliary dyskinesia [RCV004026877]|not provided [RCV003437412] ChrX:13749456 [GRCh38]
ChrX:13767575 [GRCh37]
ChrX:Xp22.2		 benign|likely benign
NM_003611.3(OFD1):c.655-2A>G single nucleotide variant Primary ciliary dyskinesia [RCV004026883] ChrX:13746778 [GRCh38]
ChrX:13764897 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_003611.3(OFD1):c.450TCA[1] (p.His151del) microsatellite Familial aplasia of the vermis [RCV001862065]|Primary ciliary dyskinesia [RCV004026893] 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 Primary ciliary dyskinesia [RCV004026895] ChrX:13762364 [GRCh38]
ChrX:13780483 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.2373G>T (p.Pro791=) single nucleotide variant Familial aplasia of the vermis [RCV002067047]|Primary ciliary dyskinesia [RCV004026891] 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 Familial aplasia of the vermis [RCV002534990]|History of neurodevelopmental disorder [RCV000721039]|Orofaciodigital syndrome I [RCV002477663] 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 Familial aplasia of the vermis [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 Familial aplasia of the vermis [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 Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
Single allele duplication Autism [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 Familial aplasia of the vermis [RCV002540943]|Primary ciliary dyskinesia [RCV004029430] ChrX:13768759 [GRCh38]
ChrX:13786878 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.1994T>C (p.Leu665Pro) single nucleotide variant Familial aplasia of the vermis [RCV001996562] ChrX:13760454 [GRCh38]
ChrX:13778573 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.2136C>T (p.Asp712=) single nucleotide variant Familial aplasia of the vermis [RCV002539704]|not provided [RCV001703382] ChrX:13760596 [GRCh38]
ChrX:13778715 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.569G>A (p.Arg190His) single nucleotide variant Familial aplasia of the vermis [RCV001520548]|Primary ciliary dyskinesia [RCV004027844] ChrX:13746370 [GRCh38]
ChrX:13764489 [GRCh37]
ChrX:Xp22.2		 benign|uncertain significance
NM_003611.3(OFD1):c.1543-147dup duplication not provided [RCV001583588] ChrX:13758181..13758182 [GRCh38]
ChrX:13776300..13776301 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.2997-29A>G single nucleotide variant not provided [RCV001565983] ChrX:13769037 [GRCh38]
ChrX:13787156 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.2387+90_2387+91dup duplication not provided [RCV001681745] ChrX:13761290..13761291 [GRCh38]
ChrX:13779409..13779410 [GRCh37]
ChrX:Xp22.2		 benign
NM_003611.3(OFD1):c.1130-4dup duplication Familial aplasia of the vermis [RCV003768640] 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 Familial aplasia of the vermis [RCV000758013] ChrX:13768093 [GRCh38]
ChrX:13786212 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_003611.3(OFD1):c.2996+81T>C single nucleotide variant not provided [RCV001550429] ChrX:13768866 [GRCh38]
ChrX:13786985 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.1055+214C>A single nucleotide variant not provided [RCV001564083] ChrX:13751582 [GRCh38]
ChrX:13769701 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.829-287A>T single nucleotide variant not provided [RCV001550893] ChrX:13749140 [GRCh38]
ChrX:13767259 [GRCh37]
ChrX:Xp22.2		 likely benign
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.312+206G>T single nucleotide variant not provided [RCV001693093] ChrX:13736884 [GRCh38]
ChrX:13755003 [GRCh37]
ChrX:Xp22.2		 benign
NM_003611.3(OFD1):c.2261-24G>A single nucleotide variant not provided [RCV001568817] ChrX:13761061 [GRCh38]
ChrX:13779180 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.1617T>G (p.Val539=) single nucleotide variant Familial aplasia of the vermis [RCV002541538]|not provided [RCV004726735] ChrX:13758411 [GRCh38]
ChrX:13776530 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.2600-4T>G single nucleotide variant Familial aplasia of the vermis [RCV001511002]|not provided [RCV004721659] ChrX:13767123 [GRCh38]
ChrX:13785242 [GRCh37]
ChrX:Xp22.2		 benign|uncertain significance
NM_003611.3(OFD1):c.2235C>T (p.Ser745=) single nucleotide variant Familial aplasia of the vermis [RCV002064467]|Orofaciodigital syndrome I [RCV002495234]|Primary ciliary dyskinesia [RCV004029335]|not provided [RCV003438508] ChrX:13760695 [GRCh38]
ChrX:13778814 [GRCh37]
ChrX:Xp22.2		 benign|likely benign
NM_003611.3(OFD1):c.2327C>G (p.Thr776Ser) single nucleotide variant Familial aplasia of the vermis [RCV002539278] ChrX:13761151 [GRCh38]
ChrX:13779270 [GRCh37]
ChrX:Xp22.2		 benign
NM_003611.3(OFD1):c.688A>G (p.Ile230Val) single nucleotide variant Familial aplasia of the vermis [RCV001515618]|Orofaciodigital syndrome I [RCV002495267] ChrX:13746813 [GRCh38]
ChrX:13764932 [GRCh37]
ChrX:Xp22.2		 benign|likely 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 Familial aplasia of the vermis [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 Familial aplasia of the vermis [RCV000871591]|Primary ciliary dyskinesia [RCV004027790]|not provided [RCV004714140] ChrX:13744478 [GRCh38]
ChrX:13762597 [GRCh37]
ChrX:Xp22.2		 benign|likely benign
NM_003611.3(OFD1):c.2959C>A (p.Leu987Ile) single nucleotide variant Familial aplasia of the vermis [RCV002062261] ChrX:13768748 [GRCh38]
ChrX:13786867 [GRCh37]
ChrX:Xp22.2		 benign
NM_003611.3(OFD1):c.567G>A (p.Gln189=) single nucleotide variant Familial aplasia of the vermis [RCV000873221]|OFD1-related disorder [RCV004540250]|Primary ciliary dyskinesia [RCV004027819] ChrX:13746368 [GRCh38]
ChrX:13764487 [GRCh37]
ChrX:Xp22.2		 benign|likely 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 Familial aplasia of the vermis [RCV002064706] ChrX:13739042 [GRCh38]
ChrX:13757161 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.1961G>A (p.Arg654Gln) single nucleotide variant Familial aplasia of the vermis [RCV002065676]|not provided [RCV000899438] ChrX:13760421 [GRCh38]
ChrX:13778540 [GRCh37]
ChrX:Xp22.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003611.3(OFD1):c.359C>T (p.Thr120Ile) single nucleotide variant Familial aplasia of the vermis [RCV003768639] ChrX:13738892 [GRCh38]
ChrX:13757011 [GRCh37]
ChrX:Xp22.2		 benign
NM_003611.3(OFD1):c.1183G>A (p.Glu395Lys) single nucleotide variant Primary ciliary dyskinesia [RCV004301013] ChrX:13755204 [GRCh38]
ChrX:13773323 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.935+628T>C single nucleotide variant not provided [RCV003312756] ChrX:13750161 [GRCh38]
ChrX:13768280 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.1785A>G (p.Lys595=) single nucleotide variant Familial aplasia of the vermis [RCV000819087] ChrX:13760245 [GRCh38]
ChrX:13778364 [GRCh37]
ChrX:Xp22.2		 likely benign|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 Familial aplasia of the vermis [RCV000803063] ChrX:13756633 [GRCh38]
ChrX:13774752 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.2188T>A (p.Ser730Thr) single nucleotide variant Familial aplasia of the vermis [RCV000791602]|Primary ciliary dyskinesia [RCV004027392] 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 Familial aplasia of the vermis [RCV001506312]|Orofaciodigital syndrome I [RCV002488067] 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 Familial aplasia of the vermis [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 Familial aplasia of the vermis [RCV002068610]|not provided [RCV000842216] ChrX:13749545 [GRCh38]
ChrX:13767664 [GRCh37]
ChrX:Xp22.2		 benign|likely benign
NM_003611.3(OFD1):c.1129+8T>A single nucleotide variant Familial aplasia of the vermis [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 Familial aplasia of the vermis [RCV001209360] ChrX:13768137 [GRCh38]
ChrX:13786256 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.679A>G (p.Ile227Val) single nucleotide variant Familial aplasia of the vermis [RCV001213307]|Primary ciliary dyskinesia [RCV004033886]|not provided [RCV001751392] 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 Familial aplasia of the vermis [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 Familial aplasia of the vermis [RCV001243555] ChrX:13760488 [GRCh38]
ChrX:13778607 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.2758-2A>T single nucleotide variant OFD1-related disorder [RCV004529622]|not specified [RCV003317841] ChrX:13768052 [GRCh38]
ChrX:13786171 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.2927A>C (p.Lys976Thr) single nucleotide variant Familial aplasia of the vermis [RCV001858898]|not provided [RCV000999324] ChrX:13768223 [GRCh38]
ChrX:13786342 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.2114G>A (p.Gly705Asp) single nucleotide variant not provided [RCV003313675] ChrX:13760574 [GRCh38]
ChrX:13778693 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.794dup (p.Ser266fs) duplication Familial aplasia of the vermis [RCV001239727] ChrX:13746915..13746916 [GRCh38]
ChrX:13765034..13765035 [GRCh37]
ChrX:Xp22.2		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_003611.3(OFD1):c.2150T>C (p.Leu717Pro) single nucleotide variant Primary ciliary dyskinesia [RCV004326386] ChrX:13760610 [GRCh38]
ChrX:13778729 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001011658.4(TRAPPC2):c.308A>G (p.Tyr103Cys) single nucleotide variant Spondyloepiphyseal dysplasia tarda, X-linked [RCV003120361] ChrX:13716020 [GRCh38]
ChrX:13734139 [GRCh37]
ChrX:Xp22.2		 benign
NC_000023.10:g.(?_12885698)_(13787227_?)del deletion Familial aplasia of the vermis [RCV003122295]|not provided [RCV003105403] ChrX:12885698..13787227 [GRCh37]
ChrX:Xp22.2		 pathogenic|no classifications from unflagged records
NM_003611.3(OFD1):c.2358_2372del (p.Val787_Pro791del) deletion Primary ciliary dyskinesia [RCV001580351] ChrX:13761176..13761190 [GRCh38]
ChrX:13779295..13779309 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.412+282del deletion not provided [RCV001546793] ChrX:13739297 [GRCh38]
ChrX:13757416 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.2489-90G>A single nucleotide variant not provided [RCV001570361] ChrX:13763655 [GRCh38]
ChrX:13781774 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.2119C>T (p.Leu707Phe) single nucleotide variant OFD1-related disorder [RCV004529623]|not specified [RCV003317842] ChrX:13760579 [GRCh38]
ChrX:13778698 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.*123T>G single nucleotide variant not provided [RCV001553421] ChrX:13769231 [GRCh38]
ChrX:13787350 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.381+27A>G single nucleotide variant not provided [RCV001713562] ChrX:13738941 [GRCh38]
ChrX:13757060 [GRCh37]
ChrX:Xp22.2		 benign
NM_003611.3(OFD1):c.829-287dup duplication Primary ciliary dyskinesia [RCV004017857]|not provided [RCV001715792] ChrX:13749121..13749122 [GRCh38]
ChrX:13767240..13767241 [GRCh37]
ChrX:Xp22.2		 benign|likely benign
NM_003611.3(OFD1):c.1129+208A>G single nucleotide variant not provided [RCV001577119] ChrX:13753649 [GRCh38]
ChrX:13771768 [GRCh37]
ChrX:Xp22.2		 likely benign
NC_000023.11:g.13734708T>G single nucleotide variant not provided [RCV001584818] ChrX:13734708 [GRCh38]
ChrX:13752827 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.1055+187C>G single nucleotide variant not provided [RCV001562791] ChrX:13751555 [GRCh38]
ChrX:13769674 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.655-140G>C single nucleotide variant not provided [RCV001670171] ChrX:13746640 [GRCh38]
ChrX:13764759 [GRCh37]
ChrX:Xp22.2		 benign
NM_003611.3(OFD1):c.412+282dup duplication not provided [RCV001656283] ChrX:13739296..13739297 [GRCh38]
ChrX:13757415..13757416 [GRCh37]
ChrX:Xp22.2		 benign
NM_003611.3(OFD1):c.972A>G (p.Ile324Met) single nucleotide variant Familial aplasia of the vermis [RCV001998688] ChrX:13751285 [GRCh38]
ChrX:13769404 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.1412-8C>T single nucleotide variant not provided [RCV001573096] ChrX:13757652 [GRCh38]
ChrX:13775771 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.1130-175C>T single nucleotide variant not provided [RCV001617443] ChrX:13754976 [GRCh38]
ChrX:13773095 [GRCh37]
ChrX:Xp22.2		 benign
NM_003611.3(OFD1):c.1737G>A (p.Val579=) single nucleotide variant Familial aplasia of the vermis [RCV001443880] 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 Familial aplasia of the vermis [RCV001054764] ChrX:13746366 [GRCh38]
ChrX:13764485 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_003611.3(OFD1):c.257G>A (p.Gly86Asp) single nucleotide variant Familial aplasia of the vermis [RCV001063711] ChrX:13736623 [GRCh38]
ChrX:13754742 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NC_000023.11:g.(?_13735066)_(13769113_?)del deletion Familial aplasia of the vermis [RCV001031300] ChrX:13753185..13787232 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_003611.3(OFD1):c.1366C>T (p.Gln456Ter) single nucleotide variant not provided [RCV001532195] ChrX:13756722 [GRCh38]
ChrX:13774841 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_003611.3(OFD1):c.1803A>G (p.Ala601=) single nucleotide variant not provided [RCV001532196] ChrX:13760263 [GRCh38]
ChrX:13778382 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.50A>G (p.Asp17Gly) single nucleotide variant OFD1-related ciliopathy [RCV001563662] ChrX:13735285 [GRCh38]
ChrX:13753404 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.412+264C>A single nucleotide variant not provided [RCV001586717] ChrX:13739296 [GRCh38]
ChrX:13757415 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.1411+240C>T single nucleotide variant not provided [RCV001559590] ChrX:13757007 [GRCh38]
ChrX:13775126 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.829-254G>T single nucleotide variant not provided [RCV001576890] ChrX:13749173 [GRCh38]
ChrX:13767292 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.12+79T>G single nucleotide variant not provided [RCV001618129] ChrX:13735162 [GRCh38]
ChrX:13753281 [GRCh37]
ChrX:Xp22.2		 benign
NM_003611.3(OFD1):c.654+41T>C single nucleotide variant not provided [RCV001616116] ChrX:13746496 [GRCh38]
ChrX:13764615 [GRCh37]
ChrX:Xp22.2		 benign
NM_003611.3(OFD1):c.-315G>C single nucleotide variant not provided [RCV001594090] ChrX:13734757 [GRCh38]
ChrX:13752876 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.1412-75dup duplication not provided [RCV001595947] ChrX:13757584..13757585 [GRCh38]
ChrX:13775703..13775704 [GRCh37]
ChrX:Xp22.2		 benign
NM_003611.3(OFD1):c.13-59T>G single nucleotide variant not provided [RCV001572344] ChrX:13735189 [GRCh38]
ChrX:13753308 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.1129+234A>G single nucleotide variant not provided [RCV001637525] ChrX:13753675 [GRCh38]
ChrX:13771794 [GRCh37]
ChrX:Xp22.2		 benign
NM_003611.3(OFD1):c.2117C>T (p.Thr706Ile) single nucleotide variant Familial aplasia of the vermis [RCV002073002]|OFD1-related disorder [RCV004542057]|Orofaciodigital syndrome I [RCV002501989]|Retinal dystrophy [RCV003888309]|not provided [RCV001656290] ChrX:13760577 [GRCh38]
ChrX:13778696 [GRCh37]
ChrX:Xp22.2		 benign|likely benign
NM_003611.3(OFD1):c.*47G>A single nucleotide variant not provided [RCV001689295] ChrX:13769155 [GRCh38]
ChrX:13787274 [GRCh37]
ChrX:Xp22.2		 benign
NM_003611.3(OFD1):c.1655-189A>G single nucleotide variant not provided [RCV001675553] ChrX:13759926 [GRCh38]
ChrX:13778045 [GRCh37]
ChrX:Xp22.2		 benign
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.2387+249C>A single nucleotide variant not provided [RCV001670535] ChrX:13761460 [GRCh38]
ChrX:13779579 [GRCh37]
ChrX:Xp22.2		 benign
NM_003611.3(OFD1):c.935+518A>G single nucleotide variant not provided [RCV001686168] ChrX:13750051 [GRCh38]
ChrX:13768170 [GRCh37]
ChrX:Xp22.2		 benign
NM_003611.3(OFD1):c.412+281A>C single nucleotide variant not provided [RCV001590815] ChrX:13739313 [GRCh38]
ChrX:13757432 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.1130-272A>G single nucleotide variant not provided [RCV001687194] ChrX:13754879 [GRCh38]
ChrX:13772998 [GRCh37]
ChrX:Xp22.2		 benign
NM_003611.3(OFD1):c.2599+34G>A single nucleotide variant not provided [RCV001656901] ChrX:13763889 [GRCh38]
ChrX:13782008 [GRCh37]
ChrX:Xp22.2		 benign
NM_003611.3(OFD1):c.935+663C>T single nucleotide variant not provided [RCV001654650] ChrX:13750196 [GRCh38]
ChrX:13768315 [GRCh37]
ChrX:Xp22.2		 benign
NM_003611.3(OFD1):c.1655-89T>C single nucleotide variant not provided [RCV001595144] ChrX:13760026 [GRCh38]
ChrX:13778145 [GRCh37]
ChrX:Xp22.2		 benign
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 Familial aplasia of the vermis [RCV001218493]|Primary ciliary dyskinesia [RCV004034072] 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.1412-11del deletion Joubert syndrome 10 [RCV001788611]|Orofaciodigital syndrome I [RCV001788609]|Retinitis pigmentosa 23 [RCV001788612]|Simpson-Golabi-Behmel syndrome type 2 [RCV001788610]|not provided [RCV001616014] ChrX:13757634 [GRCh38]
ChrX:13775753 [GRCh37]
ChrX:Xp22.2		 benign
NM_003611.3(OFD1):c.1055+118del deletion not provided [RCV001693523] ChrX:13751475 [GRCh38]
ChrX:13769594 [GRCh37]
ChrX:Xp22.2		 benign
NM_003611.3(OFD1):c.828+51G>A single nucleotide variant not provided [RCV001614325] ChrX:13747004 [GRCh38]
ChrX:13765123 [GRCh37]
ChrX:Xp22.2		 benign
NM_003611.3(OFD1):c.2388-38A>G single nucleotide variant not provided [RCV001694586] ChrX:13762306 [GRCh38]
ChrX:13780425 [GRCh37]
ChrX:Xp22.2		 benign
NM_003611.3(OFD1):c.1055+264A>G single nucleotide variant not provided [RCV001680961] ChrX:13751632 [GRCh38]
ChrX:13769751 [GRCh37]
ChrX:Xp22.2		 benign
NM_003611.3(OFD1):c.935+66A>G single nucleotide variant not provided [RCV001692737] ChrX:13749599 [GRCh38]
ChrX:13767718 [GRCh37]
ChrX:Xp22.2		 benign
NM_003611.3(OFD1):c.935+636A>G single nucleotide variant not provided [RCV001652508] ChrX:13750169 [GRCh38]
ChrX:13768288 [GRCh37]
ChrX:Xp22.2		 benign
NM_003611.3(OFD1):c.112-172del deletion not provided [RCV001668716] ChrX:13736304 [GRCh38]
ChrX:13754423 [GRCh37]
ChrX:Xp22.2		 benign
NM_003611.3(OFD1):c.1412-5C>T single nucleotide variant not provided [RCV001572938] ChrX:13757655 [GRCh38]
ChrX:13775774 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.2996+34A>C single nucleotide variant not provided [RCV001583903] ChrX:13768819 [GRCh38]
ChrX:13786938 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.2833C>T (p.Gln945Ter) single nucleotide variant not provided [RCV001547691] ChrX:13768129 [GRCh38]
ChrX:13786248 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_003611.3(OFD1):c.29T>C (p.Val10Ala) single nucleotide variant Familial aplasia of the vermis [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]|not provided [RCV001549374] ChrX:13760144 [GRCh38]
ChrX:13778263 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.916A>G (p.Arg306Gly) single nucleotide variant Familial aplasia of the vermis [RCV001069407] ChrX:13749514 [GRCh38]
ChrX:13767633 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.276T>A (p.Ser92=) single nucleotide variant Familial aplasia of the vermis [RCV001070838] ChrX:13736642 [GRCh38]
ChrX:13754761 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.382G>A (p.Val128Ile) single nucleotide variant Familial aplasia of the vermis [RCV003770308]|Intellectual disability [RCV001252089] ChrX:13739002 [GRCh38]
ChrX:13757121 [GRCh37]
ChrX:Xp22.2		 likely benign|uncertain significance
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 Familial aplasia of the vermis [RCV003770338]|Primary ciliary dyskinesia [RCV004035368]|Rare genetic intellectual disability [RCV001257024] ChrX:13767196 [GRCh38]
ChrX:13785315 [GRCh37]
ChrX:Xp22.2		 likely benign|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 Familial aplasia of the vermis [RCV002570589]|OFD1-related disorder [RCV004528442]|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 Familial aplasia of the vermis [RCV001312316] ChrX:13767284 [GRCh38]
ChrX:13785403 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.2078G>A (p.Gly693Glu) single nucleotide variant Familial aplasia of the vermis [RCV001866038]|not provided [RCV001572305]|not specified [RCV001821904] ChrX:13760538 [GRCh38]
ChrX:13778657 [GRCh37]
ChrX:Xp22.2		 likely benign|uncertain significance
NM_003611.3(OFD1):c.1300A>T (p.Met434Leu) single nucleotide variant Familial aplasia of the vermis [RCV002005044] ChrX:13756656 [GRCh38]
ChrX:13774775 [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
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304) copy number loss Turner syndrome [RCV002280671] ChrX:168546..57841304 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NM_003611.3(OFD1):c.2176C>T (p.Arg726Cys) single nucleotide variant Familial aplasia of the vermis [RCV003770364]|Joubert syndrome 10 [RCV001262142] ChrX:13760636 [GRCh38]
ChrX:13778755 [GRCh37]
ChrX:Xp22.2		 likely benign|uncertain significance
NM_003611.3(OFD1):c.1411+1G>A single nucleotide variant Orofaciodigital syndrome I [RCV001535950] ChrX:13756768 [GRCh38]
ChrX:13774887 [GRCh37]
ChrX:Xp22.2		 pathogenic
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.1654+191T>G single nucleotide variant not provided [RCV001568275] ChrX:13758639 [GRCh38]
ChrX:13776758 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.413-263G>A single nucleotide variant not provided [RCV001527799] ChrX:13744152 [GRCh38]
ChrX:13762271 [GRCh37]
ChrX:Xp22.2		 likely benign
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
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789) copy number loss Turner syndrome [RCV002280669] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22		 pathogenic
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 Familial aplasia of the vermis [RCV002541763]|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 Familial aplasia of the vermis [RCV001341783]|Orofaciodigital syndrome I [RCV002476576] ChrX:13758383 [GRCh38]
ChrX:13776502 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.2997-6A>G single nucleotide variant Familial aplasia of the vermis [RCV001296175] ChrX:13769060 [GRCh38]
ChrX:13787179 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.3G>A (p.Met1Ile) single nucleotide variant Familial aplasia of the vermis [RCV001859306]|Joubert syndrome 10 [RCV001333140]|Primary ciliary dyskinesia [RCV004035756] ChrX:13735074 [GRCh38]
ChrX:13753193 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.829-16A>G single nucleotide variant Familial aplasia of the vermis [RCV001318606] ChrX:13749411 [GRCh38]
ChrX:13767530 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.1542+21G>A single nucleotide variant not provided [RCV001539037] ChrX:13757811 [GRCh38]
ChrX:13775930 [GRCh37]
ChrX:Xp22.2		 benign
NM_003611.3(OFD1):c.2260+160C>G single nucleotide variant not provided [RCV001537037] ChrX:13760880 [GRCh38]
ChrX:13778999 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.951G>T (p.Gln317His) single nucleotide variant Peripheral precocious puberty [RCV001374424] ChrX:13751264 [GRCh38]
ChrX:13769383 [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 Familial aplasia of the vermis [RCV001871846]|Orofaciodigital syndrome I [RCV001333141]|Orofaciodigital syndrome I [RCV002486332]|not provided [RCV001587352] ChrX:13749537 [GRCh38]
ChrX:13767656 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.1347A>G (p.Ala449=) single nucleotide variant Familial aplasia of the vermis [RCV003770455]|OFD1-related disorder [RCV004545179]|Orofaciodigital syndrome I [RCV002493518]|not provided [RCV001288315] ChrX:13756703 [GRCh38]
ChrX:13774822 [GRCh37]
ChrX:Xp22.2		 likely benign
NC_000023.10:g.(?_13753185)_(13787232_?)dup duplication Familial aplasia of the vermis [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 Familial aplasia of the vermis [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.620_622dup (p.Ile207_Glu208insVal) duplication Familial aplasia of the vermis [RCV001366278] ChrX:13746420..13746421 [GRCh38]
ChrX:13764539..13764540 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.3021A>T (p.Glu1007Asp) single nucleotide variant Familial aplasia of the vermis [RCV001349914]|Orofaciodigital syndrome I [RCV002493799] ChrX:13769090 [GRCh38]
ChrX:13787209 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.1848G>A (p.Val616=) single nucleotide variant Familial aplasia of the vermis [RCV001339477] ChrX:13760308 [GRCh38]
ChrX:13778427 [GRCh37]
ChrX:Xp22.2		 likely benign|uncertain significance
NM_003611.3(OFD1):c.853C>G (p.Gln285Glu) single nucleotide variant Familial aplasia of the vermis [RCV001413015] ChrX:13749451 [GRCh38]
ChrX:13767570 [GRCh37]
ChrX:Xp22.2		 likely benign
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_003611.3(OFD1):c.2745_2746del (p.Tyr916fs) deletion Familial aplasia of the vermis [RCV001387144] ChrX:13767271..13767272 [GRCh38]
ChrX:13785390..13785391 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_003611.3(OFD1):c.2996+16AC[2] microsatellite Familial aplasia of the vermis [RCV001509977]|Orofaciodigital syndrome I [RCV002506593] ChrX:13768801..13768802 [GRCh38]
ChrX:13786920..13786921 [GRCh37]
ChrX:Xp22.2		 benign|likely benign
NM_003611.3(OFD1):c.1400G>A (p.Arg467His) single nucleotide variant Familial aplasia of the vermis [RCV001511457]|Primary ciliary dyskinesia [RCV004651683]|not provided [RCV003438850] ChrX:13756756 [GRCh38]
ChrX:13774875 [GRCh37]
ChrX:Xp22.2		 benign|likely benign
NM_003611.3(OFD1):c.494C>T (p.Ser165Leu) single nucleotide variant Familial aplasia of the vermis [RCV001517035]|Orofaciodigital syndrome I [RCV002501798]|Primary ciliary dyskinesia [RCV004037941] ChrX:13744496 [GRCh38]
ChrX:13762615 [GRCh37]
ChrX:Xp22.2		 benign|likely benign|uncertain significance
NM_003611.3(OFD1):c.2305A>G (p.Arg769Gly) single nucleotide variant Familial aplasia of the vermis [RCV001517301] ChrX:13761129 [GRCh38]
ChrX:13779248 [GRCh37]
ChrX:Xp22.2		 benign
NM_003611.3(OFD1):c.111+163C>T single nucleotide variant not provided [RCV001537088] ChrX:13735509 [GRCh38]
ChrX:13753628 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.1221+7_1221+8del deletion Familial aplasia of the vermis [RCV001440286] ChrX:13755248..13755249 [GRCh38]
ChrX:13773367..13773368 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.2538C>T (p.Ala846=) single nucleotide variant Familial aplasia of the vermis [RCV001427320] ChrX:13763794 [GRCh38]
ChrX:13781913 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.1993C>T (p.Leu665=) single nucleotide variant Familial aplasia of the vermis [RCV001443758] ChrX:13760453 [GRCh38]
ChrX:13778572 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.2499C>T (p.Asn833=) single nucleotide variant Familial aplasia of the vermis [RCV001446438] ChrX:13763755 [GRCh38]
ChrX:13781874 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.2387+1G>C single nucleotide variant Polymicrogyria [RCV001391275] ChrX:13761212 [GRCh38]
ChrX:13779331 [GRCh37]
ChrX:Xp22.2		 likely pathogenic
NM_003611.3(OFD1):c.412+10G>T single nucleotide variant Familial aplasia of the vermis [RCV001435140] ChrX:13739042 [GRCh38]
ChrX:13757161 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.111+2T>G single nucleotide variant Familial aplasia of the vermis [RCV001380141] ChrX:13735348 [GRCh38]
ChrX:13753467 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_003611.3(OFD1):c.517+298C>G single nucleotide variant not provided [RCV001540277] ChrX:13744817 [GRCh38]
ChrX:13762936 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.1654+336G>A single nucleotide variant not provided [RCV001583838] ChrX:13758784 [GRCh38]
ChrX:13776903 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.517+13_517+14delinsGC indel Familial aplasia of the vermis [RCV001509603]|Orofaciodigital syndrome I [RCV002501742] ChrX:13744532..13744533 [GRCh38]
ChrX:13762651..13762652 [GRCh37]
ChrX:Xp22.2		 benign|likely benign
NM_003611.3(OFD1):c.2784T>A (p.Ile928=) single nucleotide variant Familial aplasia of the vermis [RCV001468983] ChrX:13768080 [GRCh38]
ChrX:13786199 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.2938A>C (p.Lys980Gln) single nucleotide variant Familial aplasia of the vermis [RCV001496040] ChrX:13768727 [GRCh38]
ChrX:13786846 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.2387+91dup duplication not provided [RCV001716083] ChrX:13761290..13761291 [GRCh38]
ChrX:13779409..13779410 [GRCh37]
ChrX:Xp22.2		 benign
NM_003611.3(OFD1):c.2261-80G>A single nucleotide variant not provided [RCV001609229] ChrX:13761005 [GRCh38]
ChrX:13779124 [GRCh37]
ChrX:Xp22.2		 benign
NM_003611.3(OFD1):c.112-63C>T single nucleotide variant not provided [RCV001643940] ChrX:13736415 [GRCh38]
ChrX:13754534 [GRCh37]
ChrX:Xp22.2		 benign
NC_000023.11:g.13734693C>A single nucleotide variant not provided [RCV001590888] ChrX:13734693 [GRCh38]
ChrX:13752812 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.393T>G (p.Ser131=) single nucleotide variant Familial aplasia of the vermis [RCV001452576] ChrX:13739013 [GRCh38]
ChrX:13757132 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.313-175A>G single nucleotide variant not provided [RCV001592606] ChrX:13738671 [GRCh38]
ChrX:13756790 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.2600-7del deletion Familial aplasia of the vermis [RCV001484168] ChrX:13767119 [GRCh38]
ChrX:13785238 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.12+10C>A single nucleotide variant Familial aplasia of the vermis [RCV001501424] ChrX:13735093 [GRCh38]
ChrX:13753212 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.829-287del deletion Primary ciliary dyskinesia [RCV004017853]|not provided [RCV001614139] ChrX:13749122 [GRCh38]
ChrX:13767241 [GRCh37]
ChrX:Xp22.2		 benign|likely benign
NM_003611.3(OFD1):c.780C>T (p.Leu260=) single nucleotide variant Familial aplasia of the vermis [RCV001518634] ChrX:13746905 [GRCh38]
ChrX:13765024 [GRCh37]
ChrX:Xp22.2		 benign
NM_003611.3(OFD1):c.2757+163dup duplication not provided [RCV001612381] ChrX:13767444..13767445 [GRCh38]
ChrX:13785563..13785564 [GRCh37]
ChrX:Xp22.2		 benign
NM_003611.3(OFD1):c.2260+12G>A single nucleotide variant Familial aplasia of the vermis [RCV001516754]|Orofaciodigital syndrome I [RCV002501795]|not provided [RCV001726575]|not specified [RCV001699799] ChrX:13760732 [GRCh38]
ChrX:13778851 [GRCh37]
ChrX:Xp22.2		 benign|likely benign
NM_003611.3(OFD1):c.1742G>A (p.Cys581Tyr) single nucleotide variant Familial aplasia of the vermis [RCV001521664]|OFD1-related disorder [RCV004738329]|Primary ciliary dyskinesia [RCV004037954] ChrX:13760202 [GRCh38]
ChrX:13778321 [GRCh37]
ChrX:Xp22.2		 benign|likely benign|uncertain significance
NM_003611.3(OFD1):c.2895C>T (p.Ile965=) single nucleotide variant Familial aplasia of the vermis [RCV001418342] ChrX:13768191 [GRCh38]
ChrX:13786310 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.2169G>A (p.Ser723=) single nucleotide variant Familial aplasia of the vermis [RCV001424676] ChrX:13760629 [GRCh38]
ChrX:13778748 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.1015G>A (p.Glu339Lys) single nucleotide variant Familial aplasia of the vermis [RCV001430906]|OFD1-related disorder [RCV004540312]|not provided [RCV003442882] ChrX:13751328 [GRCh38]
ChrX:13769447 [GRCh37]
ChrX:Xp22.2		 likely benign|uncertain significance
NM_003611.3(OFD1):c.2488+14_2488+19del deletion Familial aplasia of the vermis [RCV001518394]|OFD1-related disorder [RCV004541965]|Orofaciodigital syndrome I [RCV002495816] ChrX:13762453..13762458 [GRCh38]
ChrX:13780572..13780577 [GRCh37]
ChrX:Xp22.2		 benign|likely benign
NM_003611.3(OFD1):c.1030C>T (p.Arg344Ter) single nucleotide variant Familial aplasia of the vermis [RCV002538677]|Joubert syndrome 10 [RCV002471136]|Simpson-Golabi-Behmel syndrome type 2 [RCV001726720]|not provided [RCV003130543] ChrX:13751343 [GRCh38]
ChrX:13769462 [GRCh37]
ChrX:Xp22.2		 pathogenic|uncertain significance
NM_003611.3(OFD1):c.802_820del (p.Leu268fs) deletion Simpson-Golabi-Behmel syndrome type 2 [RCV002250165] ChrX:13746926..13746944 [GRCh38]
ChrX:13765045..13765063 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_003611.3(OFD1):c.1003A>G (p.Ile335Val) single nucleotide variant not provided [RCV001756971] ChrX:13751316 [GRCh38]
ChrX:13769435 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_001011658.4(TRAPPC2):c.191_192del (p.Val64fs) microsatellite Spondyloepiphyseal dysplasia tarda [RCV000012264]|not provided [RCV001851802] ChrX:13716580..13716581 [GRCh38]
ChrX:13734699..13734700 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_003611.3(OFD1):c.889A>G (p.Arg297Gly) single nucleotide variant not provided [RCV001767184] ChrX:13749487 [GRCh38]
ChrX:13767606 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.676G>A (p.Glu226Lys) single nucleotide variant not provided [RCV001766958] ChrX:13746801 [GRCh38]
ChrX:13764920 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.2928+1G>T single nucleotide variant not provided [RCV001770759] ChrX:13768225 [GRCh38]
ChrX:13786344 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.2679_2696del (p.Arg893_Gln898del) deletion not provided [RCV001772659] ChrX:13767196..13767213 [GRCh38]
ChrX:13785315..13785332 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.412+965C>T single nucleotide variant not provided [RCV003238469] ChrX:13739997 [GRCh38]
ChrX:13758116 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.656T>G (p.Leu219Trp) single nucleotide variant Familial aplasia of the vermis [RCV001861107]|Primary ciliary dyskinesia [RCV004040147]|not provided [RCV001771053] ChrX:13746781 [GRCh38]
ChrX:13764900 [GRCh37]
ChrX:Xp22.2		 likely benign|uncertain significance
NM_003611.3(OFD1):c.1412-411G>A single nucleotide variant not provided [RCV001779904] ChrX:13757249 [GRCh38]
ChrX:13775368 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.2760G>T (p.Lys920Asn) single nucleotide variant not provided [RCV001799847] ChrX:13768056 [GRCh38]
ChrX:13786175 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.313G>A (p.Val105Ile) single nucleotide variant Familial aplasia of the vermis [RCV003772100]|not provided [RCV003238470] ChrX:13738846 [GRCh38]
ChrX:13756965 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.2987A>G (p.Lys996Arg) single nucleotide variant Familial aplasia of the vermis [RCV003120682]|not provided [RCV003238471] ChrX:13768776 [GRCh38]
ChrX:13786895 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.2484dup (p.Glu829Ter) duplication Joubert syndrome 10 [RCV001806695] ChrX:13762436..13762437 [GRCh38]
ChrX:13780555..13780556 [GRCh37]
ChrX:Xp22.2		 likely pathogenic
Single allele complex Turner syndrome [RCV002280670] ChrX:590376..56315041 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NM_003611.3(OFD1):c.778C>T (p.Leu260Phe) single nucleotide variant not provided [RCV001776641] ChrX:13746903 [GRCh38]
ChrX:13765022 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.2351T>G (p.Ile784Ser) single nucleotide variant not provided [RCV001797406] ChrX:13761175 [GRCh38]
ChrX:13779294 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.2223A>G (p.Lys741=) single nucleotide variant Familial aplasia of the vermis [RCV002077186]|OFD1-related disorder [RCV004738366]|Primary ciliary dyskinesia [RCV004040083]|not provided [RCV001758295] ChrX:13760683 [GRCh38]
ChrX:13778802 [GRCh37]
ChrX:Xp22.2		 likely benign|uncertain significance
NM_003611.3(OFD1):c.655-32G>C single nucleotide variant not provided [RCV001779722] ChrX:13746748 [GRCh38]
ChrX:13764867 [GRCh37]
ChrX:Xp22.2		 benign
NM_003611.3(OFD1):c.2726G>A (p.Arg909Gln) single nucleotide variant Familial aplasia of the vermis [RCV002074279]|Primary ciliary dyskinesia [RCV004040963]|not specified [RCV001817300] ChrX:13767253 [GRCh38]
ChrX:13785372 [GRCh37]
ChrX:Xp22.2		 benign|likely benign|uncertain significance
NM_003611.3(OFD1):c.2488+1G>A single nucleotide variant Orofaciodigital syndrome I [RCV001808142] ChrX:13762445 [GRCh38]
ChrX:13780564 [GRCh37]
ChrX:Xp22.2		 likely pathogenic
NM_003611.3(OFD1):c.237_243delinsGCCTA (p.Asp80fs) indel Orofaciodigital syndrome I [RCV001808180] ChrX:13736603..13736609 [GRCh38]
ChrX:13754722..13754728 [GRCh37]
ChrX:Xp22.2		 likely pathogenic
NM_003611.3(OFD1):c.846T>G (p.Ile282Met) single nucleotide variant not provided [RCV001806625] ChrX:13749444 [GRCh38]
ChrX:13767563 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.1829A>G (p.Asn610Ser) single nucleotide variant Familial aplasia of the vermis [RCV003772313]|not provided [RCV004728833]|not specified [RCV001820389] ChrX:13760289 [GRCh38]
ChrX:13778408 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.2505A>G (p.Pro835=) single nucleotide variant Familial aplasia of the vermis [RCV002542636]|not specified [RCV001820572] ChrX:13763761 [GRCh38]
ChrX:13781880 [GRCh37]
ChrX:Xp22.2		 likely benign|uncertain significance
NM_003611.3(OFD1):c.959A>C (p.Lys320Thr) single nucleotide variant Familial aplasia of the vermis [RCV001870432] ChrX:13751272 [GRCh38]
ChrX:13769391 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.109A>G (p.Lys37Glu) single nucleotide variant Familial aplasia of the vermis [RCV001877665] ChrX:13735344 [GRCh38]
ChrX:13753463 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.2010A>G (p.Pro670=) single nucleotide variant Familial aplasia of the vermis [RCV001870869] ChrX:13760470 [GRCh38]
ChrX:13778589 [GRCh37]
ChrX:Xp22.2		 likely benign|uncertain significance
NM_003611.3(OFD1):c.94A>G (p.Ile32Val) single nucleotide variant Familial aplasia of the vermis [RCV001871264] ChrX:13735329 [GRCh38]
ChrX:13753448 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.1793A>G (p.Asn598Ser) single nucleotide variant Familial aplasia of the vermis [RCV001875198] ChrX:13760253 [GRCh38]
ChrX:13778372 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.1543-3C>T single nucleotide variant Familial aplasia of the vermis [RCV002003834] ChrX:13758334 [GRCh38]
ChrX:13776453 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.2592G>T (p.Gln864His) single nucleotide variant Familial aplasia of the vermis [RCV001866739] ChrX:13763848 [GRCh38]
ChrX:13781967 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.1699G>A (p.Asp567Asn) single nucleotide variant Familial aplasia of the vermis [RCV001872156] ChrX:13760159 [GRCh38]
ChrX:13778278 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.1738C>T (p.Pro580Ser) single nucleotide variant Familial aplasia of the vermis [RCV001867637] ChrX:13760198 [GRCh38]
ChrX:13778317 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.1639A>G (p.Lys547Glu) single nucleotide variant Familial aplasia of the vermis [RCV002009393] ChrX:13758433 [GRCh38]
ChrX:13776552 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.1081T>C (p.Tyr361His) single nucleotide variant Familial aplasia of the vermis [RCV002013923] ChrX:13753393 [GRCh38]
ChrX:13771512 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.2868del (p.Pro957fs) deletion Primary ciliary dyskinesia [RCV001849689] ChrX:13768164 [GRCh38]
ChrX:13786283 [GRCh37]
ChrX:Xp22.2		 likely pathogenic
NM_003611.3(OFD1):c.1646C>T (p.Thr549Ile) single nucleotide variant Familial aplasia of the vermis [RCV002011005] ChrX:13758440 [GRCh38]
ChrX:13776559 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.634C>G (p.Arg212Gly) single nucleotide variant Familial aplasia of the vermis [RCV002019218] ChrX:13746435 [GRCh38]
ChrX:13764554 [GRCh37]
ChrX:Xp22.2		 uncertain significance
GRCh37/hg19 Xp22.2(chrX:13442761-14007694) copy number gain not specified [RCV002052778] ChrX:13442761..14007694 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.1237G>T (p.Val413Phe) single nucleotide variant Familial aplasia of the vermis [RCV002017805] ChrX:13756593 [GRCh38]
ChrX:13774712 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.2539G>A (p.Gly847Arg) single nucleotide variant Familial aplasia of the vermis [RCV002031086]|not provided [RCV003321896] ChrX:13763795 [GRCh38]
ChrX:13781914 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.517+8T>C single nucleotide variant Familial aplasia of the vermis [RCV002031111] ChrX:13744527 [GRCh38]
ChrX:13762646 [GRCh37]
ChrX:Xp22.2		 likely benign|uncertain significance
NM_003611.3(OFD1):c.2467G>A (p.Glu823Lys) single nucleotide variant Familial aplasia of the vermis [RCV002032233] ChrX:13762423 [GRCh38]
ChrX:13780542 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.2862dup (p.Glu955Ter) duplication Primary ciliary dyskinesia [RCV001849688] ChrX:13768157..13768158 [GRCh38]
ChrX:13786276..13786277 [GRCh37]
ChrX:Xp22.2		 pathogenic|likely pathogenic
NM_003611.3(OFD1):c.1898C>G (p.Ala633Gly) single nucleotide variant Familial aplasia of the vermis [RCV002045554] ChrX:13760358 [GRCh38]
ChrX:13778477 [GRCh37]
ChrX:Xp22.2		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.2(chrX:13255617-13915678) copy number gain not specified [RCV002052777] ChrX:13255617..13915678 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.2489-15T>G single nucleotide variant Familial aplasia of the vermis [RCV002019173] ChrX:13763730 [GRCh38]
ChrX:13781849 [GRCh37]
ChrX:Xp22.2		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_003611.3(OFD1):c.1055A>G (p.Lys352Arg) single nucleotide variant Familial aplasia of the vermis [RCV002027933] ChrX:13751368 [GRCh38]
ChrX:13769487 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.2525G>C (p.Gly842Ala) single nucleotide variant Familial aplasia of the vermis [RCV002028060]|Primary ciliary dyskinesia [RCV004651923] ChrX:13763781 [GRCh38]
ChrX:13781900 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.59G>A (p.Arg20His) single nucleotide variant Familial aplasia of the vermis [RCV002026040]|OFD1-related disorder [RCV004529085] ChrX:13735294 [GRCh38]
ChrX:13753413 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NC_000023.10:g.(?_13732526)_(13762658_?)dup duplication Familial aplasia of the vermis [RCV001998398] ChrX:13732526..13762658 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.2071A>G (p.Ile691Val) single nucleotide variant Familial aplasia of the vermis [RCV002004599] ChrX:13760531 [GRCh38]
ChrX:13778650 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.2514G>C (p.Leu838Phe) single nucleotide variant Familial aplasia of the vermis [RCV002002648] ChrX:13763770 [GRCh38]
ChrX:13781889 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.74A>G (p.Gln25Arg) single nucleotide variant Familial aplasia of the vermis [RCV002003485]|Orofaciodigital syndrome I [RCV002492254] ChrX:13735309 [GRCh38]
ChrX:13753428 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.1502A>C (p.Glu501Ala) single nucleotide variant Familial aplasia of the vermis [RCV002026880] ChrX:13757750 [GRCh38]
ChrX:13775869 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.1278G>A (p.Met426Ile) single nucleotide variant Familial aplasia of the vermis [RCV002030796] ChrX:13756634 [GRCh38]
ChrX:13774753 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.373A>C (p.Lys125Gln) single nucleotide variant Familial aplasia of the vermis [RCV001927197] ChrX:13738906 [GRCh38]
ChrX:13757025 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.1490A>C (p.His497Pro) single nucleotide variant Familial aplasia of the vermis [RCV001938421]|Orofaciodigital syndrome I [RCV002503605]|Primary ciliary dyskinesia [RCV004043581] ChrX:13757738 [GRCh38]
ChrX:13775857 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.1654+17C>T single nucleotide variant Familial aplasia of the vermis [RCV001939598] ChrX:13758465 [GRCh38]
ChrX:13776584 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_003611.3(OFD1):c.967A>G (p.Ser323Gly) single nucleotide variant Familial aplasia of the vermis [RCV001905920]|Orofaciodigital syndrome I [RCV002478252] ChrX:13751280 [GRCh38]
ChrX:13769399 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.2788A>T (p.Ile930Leu) single nucleotide variant Familial aplasia of the vermis [RCV001878798] ChrX:13768084 [GRCh38]
ChrX:13786203 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.2911C>G (p.Gln971Glu) single nucleotide variant Familial aplasia of the vermis [RCV001883589] ChrX:13768207 [GRCh38]
ChrX:13786326 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.2598A>C (p.Pro866=) single nucleotide variant Familial aplasia of the vermis [RCV001912520] ChrX:13763854 [GRCh38]
ChrX:13781973 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.1025A>G (p.Tyr342Cys) single nucleotide variant Familial aplasia of the vermis [RCV001883730]|Orofaciodigital syndrome I [RCV002503464] ChrX:13751338 [GRCh38]
ChrX:13769457 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.710A>G (p.Lys237Arg) single nucleotide variant Familial aplasia of the vermis [RCV001970691] ChrX:13746835 [GRCh38]
ChrX:13764954 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.568C>T (p.Arg190Cys) single nucleotide variant Familial aplasia of the vermis [RCV001891306] ChrX:13746369 [GRCh38]
ChrX:13764488 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.388G>C (p.Gly130Arg) single nucleotide variant Familial aplasia of the vermis [RCV001895824] ChrX:13739008 [GRCh38]
ChrX:13757127 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.1128A>C (p.Lys376Asn) single nucleotide variant Familial aplasia of the vermis [RCV001905376]|not specified [RCV003987921] ChrX:13753440 [GRCh38]
ChrX:13771559 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.1960C>T (p.Arg654Trp) single nucleotide variant Familial aplasia of the vermis [RCV001933226] ChrX:13760420 [GRCh38]
ChrX:13778539 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.2129G>C (p.Arg710Thr) single nucleotide variant Familial aplasia of the vermis [RCV001879667] ChrX:13760589 [GRCh38]
ChrX:13778708 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.1622A>G (p.Asp541Gly) single nucleotide variant Familial aplasia of the vermis [RCV001911064] ChrX:13758416 [GRCh38]
ChrX:13776535 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.556G>C (p.Ala186Pro) single nucleotide variant Familial aplasia of the vermis [RCV001888365] ChrX:13746357 [GRCh38]
ChrX:13764476 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.2924_2928+62inv inversion Familial aplasia of the vermis [RCV001944987] ChrX:13768220..13768286 [GRCh38]
ChrX:13786339..13786405 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.53A>C (p.Glu18Ala) single nucleotide variant Familial aplasia of the vermis [RCV001947614] ChrX:13735288 [GRCh38]
ChrX:13753407 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.1478T>C (p.Ile493Thr) single nucleotide variant Familial aplasia of the vermis [RCV001922438]|Orofaciodigital syndrome I [RCV002506985] ChrX:13757726 [GRCh38]
ChrX:13775845 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.2388-3T>C single nucleotide variant Familial aplasia of the vermis [RCV001950224] ChrX:13762341 [GRCh38]
ChrX:13780460 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.1221_1221+13del deletion Familial aplasia of the vermis [RCV001977855] ChrX:13755242..13755255 [GRCh38]
ChrX:13773361..13773374 [GRCh37]
ChrX:Xp22.2		 likely pathogenic
NM_003611.3(OFD1):c.2873T>C (p.Leu958Ser) single nucleotide variant Familial aplasia of the vermis [RCV001978538] ChrX:13768169 [GRCh38]
ChrX:13786288 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.2258A>C (p.Glu753Ala) single nucleotide variant Familial aplasia of the vermis [RCV001902506]|Primary ciliary dyskinesia [RCV004040666] ChrX:13760718 [GRCh38]
ChrX:13778837 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.1636C>G (p.Leu546Val) single nucleotide variant Familial aplasia of the vermis [RCV001982094] ChrX:13758430 [GRCh38]
ChrX:13776549 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.223A>G (p.Asn75Asp) single nucleotide variant Familial aplasia of the vermis [RCV001943188] ChrX:13736589 [GRCh38]
ChrX:13754708 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_003611.3(OFD1):c.1155G>T (p.Glu385Asp) single nucleotide variant Familial aplasia of the vermis [RCV001884499] ChrX:13755176 [GRCh38]
ChrX:13773295 [GRCh37]
ChrX:Xp22.2