CCDC22 (coiled-coil domain containing 22) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: CCDC22 (coiled-coil domain containing 22) Homo sapiens
Analyze
Symbol: CCDC22
Name: coiled-coil domain containing 22
RGD ID: 1352329
HGNC Page HGNC:28909
Description: Enables cullin family protein binding activity. Involved in several processes, including positive regulation of ubiquitin-dependent protein catabolic process; regulation of canonical NF-kappaB signal transduction; and vesicle-mediated transport to the plasma membrane. Located in centrosome. Implicated in Ritscher-Schinzel syndrome 2.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: chromosome x open reading frame 37; coiled-coil domain-containing protein 22; CXorf37; JM1; RTSC2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X49,235,470 - 49,250,520 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX49,235,470 - 49,250,520 (+)EnsemblGRCh38hg38GRCh38
GRCh37X49,091,930 - 49,106,981 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,978,885 - 48,994,341 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X48,848,381 - 48,863,351NCBI
CeleraX52,557,382 - 52,572,443 (-)NCBICelera
Cytogenetic MapXp11.23NCBI
HuRefX46,748,323 - 46,763,422 (+)NCBIHuRef
CHM1_1X49,124,228 - 49,139,289 (+)NCBICHM1_1
T2T-CHM13v2.0X48,646,429 - 48,662,382 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal hip bone morphology  (IAGP)
Abnormal mitral valve morphology  (IAGP)
Abnormal tricuspid valve morphology  (IAGP)
Abnormality of neuronal migration  (IAGP)
Abnormality of speech or vocalization  (IAGP)
Abnormality of the fontanelles or cranial sutures  (IAGP)
Adrenal hypoplasia  (IAGP)
Anal atresia  (IAGP)
Aortic valve stenosis  (IAGP)
Aplasia/Hypoplasia of the cerebellum  (IAGP)
Aplasia/Hypoplasia of the nipples  (IAGP)
Arachnoid cyst  (IAGP)
Atrial septal defect  (IAGP)
Atrioventricular canal defect  (IAGP)
Autism  (IAGP)
Brachydactyly  (IAGP)
Broad forehead  (IAGP)
Broad hallux  (IAGP)
Broad neck  (IAGP)
Camptodactyly  (IAGP)
Camptodactyly of finger  (IAGP)
Cerebellar hypoplasia  (IAGP)
Chorioretinal coloboma  (IAGP)
Cleft palate  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Convex nasal ridge  (IAGP)
Cryptorchidism  (IAGP)
Dandy-Walker malformation  (IAGP)
Death in infancy  (IAGP)
Delayed ability to walk  (IAGP)
Depressed nasal bridge  (IAGP)
Downslanted palpebral fissures  (IAGP)
Ectopic anus  (IAGP)
Facial hemangioma  (IAGP)
Feeding difficulties in infancy  (IAGP)
Finger syndactyly  (IAGP)
Frontal bossing  (IAGP)
Gastroesophageal reflux  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Hand polydactyly  (IAGP)
Hemivertebrae  (IAGP)
High palate  (IAGP)
High, narrow palate  (IAGP)
Hydrocephalus  (IAGP)
Hydronephrosis  (IAGP)
Hypertelorism  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplastic fingernail  (IAGP)
Hypoplastic left heart  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intestinal malrotation  (IAGP)
Iris coloboma  (IAGP)
Kyphosis  (IAGP)
Low posterior hairline  (IAGP)
Low-set ears  (IAGP)
Macrocephaly  (IAGP)
Micrognathia  (IAGP)
Missing ribs  (IAGP)
Optic atrophy  (IAGP)
Orofacial cleft  (IAGP)
Overlapping toe  (IAGP)
Patent ductus arteriosus  (IAGP)
Poor speech  (IAGP)
Postnatal growth retardation  (IAGP)
Preauricular skin tag  (IAGP)
Prominent fingertip pads  (IAGP)
Prominent occiput  (IAGP)
Protruding tongue  (IAGP)
Pulmonary artery hypoplasia  (IAGP)
Pulmonic stenosis  (IAGP)
Recurrent respiratory infections  (IAGP)
Relative macrocephaly  (IAGP)
Scoliosis  (IAGP)
Short distal phalanx of finger  (IAGP)
Short neck  (IAGP)
Short nose  (IAGP)
Short philtrum  (IAGP)
Short stature  (IAGP)
Single umbilical artery  (IAGP)
Syndactyly  (IAGP)
Tetralogy of Fallot  (IAGP)
Upslanted palpebral fissure  (IAGP)
Ventricular septal defect  (IAGP)
Ventriculomegaly  (IAGP)
Wide anterior fontanel  (IAGP)
Wide nasal bridge  (IAGP)
X-linked recessive inheritance  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:8889548   PMID:12522145   PMID:15489334   PMID:17478047   PMID:18029348   PMID:19204726   PMID:20237496   PMID:20398921   PMID:21826058   PMID:21873635   PMID:21988832   PMID:22070227  
PMID:23563313   PMID:24916641   PMID:25281560   PMID:25355947   PMID:25416956   PMID:25476789   PMID:25659891   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26638075   PMID:26965651  
PMID:27880917   PMID:27888057   PMID:28470452   PMID:28514442   PMID:28718761   PMID:28892079   PMID:29117863   PMID:29467282   PMID:29576527   PMID:29778605   PMID:30833792   PMID:31971710  
PMID:32296183   PMID:32838362   PMID:33060197   PMID:33226137   PMID:33417871   PMID:33961781   PMID:34079125   PMID:34232536   PMID:34597346   PMID:34672954   PMID:34709727   PMID:34901782  
PMID:35271311   PMID:35384245   PMID:35831314   PMID:35944360   PMID:36130690   PMID:36215168   PMID:37172566   PMID:37689310   PMID:37827155   PMID:38280479  


Genomics

Comparative Map Data
CCDC22
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X49,235,470 - 49,250,520 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX49,235,470 - 49,250,520 (+)EnsemblGRCh38hg38GRCh38
GRCh37X49,091,930 - 49,106,981 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,978,885 - 48,994,341 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X48,848,381 - 48,863,351NCBI
CeleraX52,557,382 - 52,572,443 (-)NCBICelera
Cytogenetic MapXp11.23NCBI
HuRefX46,748,323 - 46,763,422 (+)NCBIHuRef
CHM1_1X49,124,228 - 49,139,289 (+)NCBICHM1_1
T2T-CHM13v2.0X48,646,429 - 48,662,382 (+)NCBIT2T-CHM13v2.0
Ccdc22
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X7,460,048 - 7,471,659 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX7,460,048 - 7,471,756 (-)EnsemblGRCm39 Ensembl
GRCm38X7,593,809 - 7,605,420 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX7,593,809 - 7,605,517 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X7,170,935 - 7,182,546 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X6,750,770 - 6,762,351 (-)NCBIMGSCv36mm8
CeleraX3,866,265 - 3,877,962 (+)NCBICelera
Cytogenetic MapXA1.1NCBI
cM MapX3.42NCBI
Ccdc22
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X17,570,184 - 17,582,130 (+)NCBIGRCr8
mRatBN7.2X14,898,296 - 14,910,244 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX14,898,296 - 14,910,244 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX19,712,643 - 19,724,567 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X20,358,569 - 20,370,493 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X16,623,713 - 16,635,641 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X15,742,978 - 15,754,925 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX15,742,978 - 15,754,925 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X16,534,513 - 16,546,460 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X26,939,045 - 26,951,756 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
CeleraX14,981,697 - 14,993,611 (+)NCBICelera
Cytogenetic MapXq12NCBI
Ccdc22
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955543718,996 - 733,753 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955543719,185 - 731,788 (+)NCBIChiLan1.0ChiLan1.0
CCDC22
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X50,727,511 - 50,742,431 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X50,730,750 - 50,745,810 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X41,535,439 - 41,550,547 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X49,387,980 - 49,402,742 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX49,387,980 - 49,402,742 (+)Ensemblpanpan1.1panPan2
CCDC22
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X42,329,320 - 42,343,270 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX42,328,755 - 42,343,270 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX16,708,063 - 16,721,934 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X42,471,025 - 42,484,896 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX42,470,447 - 42,484,887 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X42,454,985 - 42,468,855 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X42,442,443 - 42,456,314 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X42,537,397 - 42,551,268 (+)NCBIUU_Cfam_GSD_1.0
Ccdc22
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X34,867,310 - 34,877,919 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367211,107,866 - 1,118,050 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367211,107,697 - 1,118,313 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CCDC22
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX43,285,246 - 43,303,864 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X43,285,232 - 43,303,865 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X48,133,195 - 48,151,807 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CCDC22
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X46,330,215 - 46,349,978 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX46,335,095 - 46,353,583 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607611,891,024 - 11,911,267 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ccdc22
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624893971,645 - 998,886 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624893971,688 - 1,008,460 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CCDC22
130 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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
NM_014008.5(CCDC22):c.614C>T (p.Ser205Leu) single nucleotide variant not provided [RCV000521735] ChrX:49243362 [GRCh38]
ChrX:49099828 [GRCh37]
ChrX:Xp11.23		 uncertain significance
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:10679-156013167)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-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 Xp22.33-11.22(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 Xp22.33-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 Xp11.23-11.22(chrX:47859417-52789530)x3 copy number gain See cases [RCV000052390] ChrX:47859417..52789530 [GRCh38]
ChrX:47835880..52818575 [GRCh37]
ChrX:47603760..52835300 [NCBI36]
ChrX:Xp11.23-11.22		 pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48344666-52664916)x2 copy number gain See cases [RCV000051992] ChrX:48344666..52664916 [GRCh38]
ChrX:48204101..52616581 [GRCh37]
ChrX:48089045..52710691 [NCBI36]
ChrX:Xp11.23-11.22		 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-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 Xp22.33-11.1(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 Xp22.33-11.21(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 Xp22.33-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 Xp11.23(chrX:48612125-49292405)x2 copy number gain See cases [RCV000054185] ChrX:48612125..49292405 [GRCh38]
ChrX:48510591..49148873 [GRCh37]
ChrX:48355457..49035817 [NCBI36]
ChrX:Xp11.23		 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_014008.5(CCDC22):c.161G>C (p.Ser54Thr) single nucleotide variant not provided [RCV000116597] ChrX:49237196 [GRCh38]
ChrX:49093663 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.972G>C (p.Gln324His) single nucleotide variant not specified [RCV000116600] ChrX:49247558 [GRCh38]
ChrX:49104019 [GRCh37]
ChrX:Xp11.23		 likely benign|uncertain significance
NM_014008.5(CCDC22):c.1213-9C>T single nucleotide variant not provided [RCV000081578] ChrX:49248398 [GRCh38]
ChrX:49104859 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.1288G>A (p.Ala430Thr) single nucleotide variant Ritscher-Schinzel syndrome 2 [RCV001420683]|not provided [RCV000955999]|not specified [RCV000081579] ChrX:49248482 [GRCh38]
ChrX:49104943 [GRCh37]
ChrX:Xp11.23		 benign
NM_014008.5(CCDC22):c.1774G>A (p.Glu592Lys) single nucleotide variant Inborn genetic diseases [RCV003162513]|not provided [RCV000081580] ChrX:49250151 [GRCh38]
ChrX:49106612 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.747= (p.Gln249=) single nucleotide variant Ritscher-Schinzel syndrome 2 [RCV001554712]|not specified [RCV000081581] ChrX:49246763 [GRCh38]
ChrX:49103224 [GRCh37]
ChrX:Xp11.23		 benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_014008.5(CCDC22):c.1636G>A (p.Asp546Asn) single nucleotide variant not provided [RCV000116598]|not specified [RCV000203092] ChrX:49249509 [GRCh38]
ChrX:49105970 [GRCh37]
ChrX:Xp11.23		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014008.5(CCDC22):c.659G>A (p.Arg220Gln) single nucleotide variant Inborn genetic diseases [RCV002515798]|not provided [RCV000116599]|not specified [RCV002464112] ChrX:49243407 [GRCh38]
ChrX:49099873 [GRCh37]
ChrX:Xp11.23		 likely benign|uncertain significance
NM_005183.3(CACNA1F):c.289C>T (p.Leu97Phe) single nucleotide variant Malignant melanoma [RCV000073210] ChrX:49231294 [GRCh38]
ChrX:49087756 [GRCh37]
ChrX:48974700 [NCBI36]
ChrX:Xp11.23		 not provided
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
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
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_014008.5(CCDC22):c.1163G>A (p.Arg388His) single nucleotide variant not provided [RCV000955998]|not specified [RCV000173852] ChrX:49248261 [GRCh38]
ChrX:49104722 [GRCh37]
ChrX:Xp11.23		 benign
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)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
NM_014008.5(CCDC22):c.1670A>G (p.Tyr557Cys) single nucleotide variant Ritscher-Schinzel syndrome 1 [RCV001028072]|Ritscher-Schinzel syndrome 2 [RCV000202351] ChrX:49249543 [GRCh38]
ChrX:49106004 [GRCh37]
ChrX:Xp11.23		 pathogenic|not provided
NM_014008.5(CCDC22):c.49A>G (p.Thr17Ala) single nucleotide variant Ritscher-Schinzel syndrome 1 [RCV001028073]|Ritscher-Schinzel syndrome 2 [RCV000202354] ChrX:49235685 [GRCh38]
ChrX:49092145 [GRCh37]
ChrX:Xp11.23		 pathogenic|not provided
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
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 Xp22.33-11.23(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 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-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-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 Xp11.3-11.22(chrX:43361870-50931794)x3 copy number gain See cases [RCV000134956] ChrX:43361870..50931794 [GRCh38]
ChrX:43221119..50674794 [GRCh37]
ChrX:43106063..50691534 [NCBI36]
ChrX:Xp11.3-11.22		 pathogenic
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 Xp11.23-11.22(chrX:48022053-52664916)x3 copy number gain See cases [RCV000135801] ChrX:48022053..52664916 [GRCh38]
ChrX:47881447..52616581 [GRCh37]
ChrX:47766391..52710691 [NCBI36]
ChrX:Xp11.23-11.22		 pathogenic|uncertain significance
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28		 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
NM_014008.5(CCDC22):c.*7G>A single nucleotide variant not provided [RCV000175202] ChrX:49250268 [GRCh38]
ChrX:49106729 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.*10G>A single nucleotide variant not provided [RCV000175203] ChrX:49250271 [GRCh38]
ChrX:49106732 [GRCh37]
ChrX:Xp11.23		 uncertain significance
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 Xp11.23-11.21(chrX:48344666-58055036)x3 copy number gain See cases [RCV000135958] ChrX:48344666..58055036 [GRCh38]
ChrX:48204101..58081470 [GRCh37]
ChrX:48089045..58098195 [NCBI36]
ChrX:Xp11.23-11.21		 pathogenic
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 Xp11.23-11.22(chrX:48260861-52664916)x2 copy number gain See cases [RCV000136829] ChrX:48260861..52664916 [GRCh38]
ChrX:48120296..52616581 [GRCh37]
ChrX:48005240..52710691 [NCBI36]
ChrX:Xp11.23-11.22		 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 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1		 pathogenic|likely benign
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 Xp11.3-11.23(chrX:44765664-49343053)x3 copy number gain See cases [RCV000137271] ChrX:44765664..49343053 [GRCh38]
ChrX:44624910..49218180 [GRCh37]
ChrX:44509854..49105124 [NCBI36]
ChrX:Xp11.3-11.23		 likely pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x3 copy number gain See cases [RCV000138106] ChrX:48429509..52664916 [GRCh38]
ChrX:48287896..52616581 [GRCh37]
ChrX:48172840..52710691 [NCBI36]
ChrX:Xp11.23-11.22		 pathogenic|likely pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x1 copy number loss See cases [RCV000138107] ChrX:48429509..52664916 [GRCh38]
ChrX:48287896..52693966 [GRCh37]
ChrX:48172840..52710691 [NCBI36]
ChrX:Xp11.23-11.22		 pathogenic
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 Xp22.33-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 Xp11.23-11.22(chrX:48386298-52664916)x2 copy number gain See cases [RCV000139185] ChrX:48386298..52664916 [GRCh38]
ChrX:48245740..52616581 [GRCh37]
ChrX:48130684..52710691 [NCBI36]
ChrX:Xp11.23-11.22		 pathogenic|uncertain significance
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-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 Xp22.33-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 Xp11.23-11.22(chrX:48953927-53273903)x2 copy number gain See cases [RCV000141869] ChrX:48953927..53273903 [GRCh38]
ChrX:48811187..53303085 [GRCh37]
ChrX:48696131..53319810 [NCBI36]
ChrX:Xp11.23-11.22		 pathogenic
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 Xp11.3-11.22(chrX:46971389-54130971)x3 copy number gain See cases [RCV000141567] ChrX:46971389..54130971 [GRCh38]
ChrX:46818746..53957191 [GRCh37]
ChrX:46703690..54174129 [NCBI36]
ChrX:Xp11.3-11.22		 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-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 Xp22.33-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_014008.5(CCDC22):c.536-7C>T single nucleotide variant Ritscher-Schinzel syndrome 2 [RCV002500587]|not provided [RCV000886379]|not specified [RCV000192619] ChrX:49243277 [GRCh38]
ChrX:49099743 [GRCh37]
ChrX:Xp11.23		 benign|likely benign|conflicting interpretations of pathogenicity
NM_014008.5(CCDC22):c.1150C>T (p.Arg384Cys) single nucleotide variant CCDC22-related condition [RCV003917739]|not provided [RCV000445174]|not specified [RCV000193188] ChrX:49248248 [GRCh38]
ChrX:49104709 [GRCh37]
ChrX:Xp11.23		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014008.5(CCDC22):c.1070C>G (p.Thr357Ser) single nucleotide variant not provided [RCV000918228]|not specified [RCV000195134] ChrX:49247746 [GRCh38]
ChrX:49104207 [GRCh37]
ChrX:Xp11.23		 benign|likely benign
NM_014008.5(CCDC22):c.715G>A (p.Glu239Lys) single nucleotide variant not provided [RCV000886329]|not specified [RCV000179938] ChrX:49246731 [GRCh38]
ChrX:49103192 [GRCh37]
ChrX:Xp11.23		 benign|likely benign|conflicting interpretations of pathogenicity
NM_014008.5(CCDC22):c.962G>A (p.Arg321Gln) single nucleotide variant not specified [RCV000180311] ChrX:49247548 [GRCh38]
ChrX:49104009 [GRCh37]
ChrX:Xp11.23		 likely benign|conflicting interpretations of pathogenicity
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_014008.5(CCDC22):c.1590G>A (p.Gly530=) single nucleotide variant not specified [RCV000194201] ChrX:49249217 [GRCh38]
ChrX:49105678 [GRCh37]
ChrX:Xp11.23		 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 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28		 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
GRCh37/hg19 Xp11.23-11.22(chrX:48310313-52614698)x1 copy number loss See cases [RCV000203435] ChrX:48310313..52614698 [GRCh37]
ChrX:Xp11.23-11.22		 pathogenic|uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28		 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: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:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1		 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:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [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
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:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_014008.5(CCDC22):c.1540-18T>C single nucleotide variant Ritscher-Schinzel syndrome 2 [RCV001554713]|not specified [RCV000353781] ChrX:49249149 [GRCh38]
ChrX:49105610 [GRCh37]
ChrX:Xp11.23		 benign
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_014008.5(CCDC22):c.404G>A (p.Arg135Gln) single nucleotide variant Inborn genetic diseases [RCV003168992]|not provided [RCV000490182] ChrX:49242928 [GRCh38]
ChrX:49099394 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.757A>G (p.Thr253Ala) single nucleotide variant not provided [RCV001760690] ChrX:49246773 [GRCh38]
ChrX:49103234 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.1037G>A (p.Arg346His) single nucleotide variant not provided [RCV000592078] ChrX:49247713 [GRCh38]
ChrX:49104174 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.909+8C>T single nucleotide variant Intellectual disability [RCV001252186] ChrX:49246933 [GRCh38]
ChrX:49103394 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_014008.5(CCDC22):c.403C>T (p.Arg135Trp) single nucleotide variant Inborn genetic diseases [RCV003166574]|Intellectual disability [RCV001252187] ChrX:49242927 [GRCh38]
ChrX:49099393 [GRCh37]
ChrX:Xp11.23		 likely benign|uncertain significance
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
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 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48317353-51497588)x3 copy number gain See cases [RCV000449147] ChrX:48317353..51497588 [GRCh37]
ChrX:Xp11.23-11.22		 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-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [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 Xp22.33-11.21(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:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
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:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28		 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 Xp11.23-11.22(chrX:48317353-51497588)x2 copy number gain See cases [RCV000447617] ChrX:48317353..51497588 [GRCh37]
ChrX:Xp11.23-11.22		 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: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_014008.5(CCDC22):c.242C>T (p.Pro81Leu) single nucleotide variant CCDC22-related condition [RCV003401438]|not provided [RCV000425724] ChrX:49242029 [GRCh38]
ChrX:49098495 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.910-5C>T single nucleotide variant not specified [RCV000443486] ChrX:49247491 [GRCh38]
ChrX:49103952 [GRCh37]
ChrX:Xp11.23		 likely benign
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 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NM_014008.5(CCDC22):c.770G>A (p.Arg257His) single nucleotide variant not provided [RCV000483859] ChrX:49246786 [GRCh38]
ChrX:49103247 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.1676A>G (p.Tyr559Cys) single nucleotide variant not provided [RCV000484150] ChrX:49249549 [GRCh38]
ChrX:49106010 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.297C>G (p.Asp99Glu) single nucleotide variant Inborn genetic diseases [RCV002526555]|not provided [RCV000480871] ChrX:49242084 [GRCh38]
ChrX:49098550 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.1135C>T (p.Arg379Cys) single nucleotide variant not specified [RCV000501087] ChrX:49248233 [GRCh38]
ChrX:49104694 [GRCh37]
ChrX:Xp11.23		 uncertain significance
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_014008.5(CCDC22):c.1207C>T (p.Leu403=) single nucleotide variant not specified [RCV000504261] ChrX:49248305 [GRCh38]
ChrX:49104766 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_014008.5(CCDC22):c.1078G>A (p.Val360Ile) single nucleotide variant not provided [RCV003437231]|not specified [RCV000504434] ChrX:49247754 [GRCh38]
ChrX:49104215 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_014008.5(CCDC22):c.901T>C (p.Phe301Leu) single nucleotide variant not provided [RCV000927975]|not specified [RCV000502049] ChrX:49246917 [GRCh38]
ChrX:49103378 [GRCh37]
ChrX:Xp11.23		 benign|uncertain significance
NM_014008.5(CCDC22):c.1164C>T (p.Arg388=) single nucleotide variant not specified [RCV000500064] ChrX:49248262 [GRCh38]
ChrX:49104723 [GRCh37]
ChrX:Xp11.23		 likely benign
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_014008.5(CCDC22):c.926C>A (p.Ala309Asp) single nucleotide variant not specified [RCV000502625] ChrX:49247512 [GRCh38]
ChrX:49103973 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_014008.5(CCDC22):c.1600C>T (p.Arg534Trp) single nucleotide variant not specified [RCV000500882] ChrX:49249227 [GRCh38]
ChrX:49105688 [GRCh37]
ChrX:Xp11.23		 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
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
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1		 pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28		 pathogenic|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 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
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
GRCh37/hg19 Xp11.23-11.22(chrX:48224454-52813336)x3 copy number gain See cases [RCV000512224] ChrX:48224454..52813336 [GRCh37]
ChrX:Xp11.23-11.22		 pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48290189-52154997)x4 copy number gain See cases [RCV000512561] ChrX:48290189..52154997 [GRCh37]
ChrX:Xp11.23-11.22		 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_014008.5(CCDC22):c.615G>A (p.Ser205=) single nucleotide variant not provided [RCV000659161] ChrX:49243363 [GRCh38]
ChrX:49099829 [GRCh37]
ChrX:Xp11.23		 likely benign
GRCh37/hg19 Xp11.23-11.22(chrX:48156672-52672728)x1 copy number loss not provided [RCV000684331] ChrX:48156672..52672728 [GRCh37]
ChrX:Xp11.23-11.22		 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
NM_014008.5(CCDC22):c.1402C>G (p.Arg468Gly) single nucleotide variant not provided [RCV000709824] ChrX:49248705 [GRCh38]
ChrX:49105166 [GRCh37]
ChrX:Xp11.23		 not provided
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
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2		 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:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [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
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3		 pathogenic
46,Y,inv(X)(p21.1q13.3) inversion Elevated circulating creatine kinase concentration [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3		 likely pathogenic
NM_014008.5(CCDC22):c.1380C>T (p.Val460=) single nucleotide variant not provided [RCV000924711] ChrX:49248683 [GRCh38]
ChrX:49105144 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_014008.5(CCDC22):c.474G>A (p.Ser158=) single nucleotide variant not provided [RCV000905701] ChrX:49243123 [GRCh38]
ChrX:49099589 [GRCh37]
ChrX:Xp11.23		 benign
NM_014008.5(CCDC22):c.1350G>A (p.Leu450=) single nucleotide variant not provided [RCV000881953] ChrX:49248653 [GRCh38]
ChrX:49105114 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_014008.5(CCDC22):c.747A>G (p.Gln249=) single nucleotide variant not provided [RCV000948153] ChrX:49246763 [GRCh38]
ChrX:49103224 [GRCh37]
ChrX:Xp11.23		 benign
NM_014008.5(CCDC22):c.420G>A (p.Leu140=) single nucleotide variant not provided [RCV000900199] ChrX:49242944 [GRCh38]
ChrX:49099410 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_014008.5(CCDC22):c.1044T>C (p.Ile348=) single nucleotide variant not provided [RCV000925486] ChrX:49247720 [GRCh38]
ChrX:49104181 [GRCh37]
ChrX:Xp11.23		 likely benign
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
NM_014008.5(CCDC22):c.1229G>A (p.Ser410Asn) single nucleotide variant not provided [RCV000782082] ChrX:49248423 [GRCh38]
ChrX:49104884 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.399A>G (p.Gln133=) single nucleotide variant not provided [RCV000900712] ChrX:49242923 [GRCh38]
ChrX:49099389 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_014008.5(CCDC22):c.1738A>G (p.Ile580Val) single nucleotide variant not provided [RCV000915720] ChrX:49249693 [GRCh38]
ChrX:49106154 [GRCh37]
ChrX:Xp11.23		 likely benign
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_014008.5(CCDC22):c.828G>A (p.Leu276=) single nucleotide variant not provided [RCV000976744] ChrX:49246844 [GRCh38]
ChrX:49103305 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_014008.5(CCDC22):c.197G>A (p.Arg66His) single nucleotide variant Ritscher-Schinzel syndrome 2 [RCV000791030]|not provided [RCV003457796] ChrX:49237232 [GRCh38]
ChrX:49093699 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.1388C>G (p.Ala463Gly) single nucleotide variant Ritscher-Schinzel syndrome 2 [RCV001198509]|not provided [RCV001091930] ChrX:49248691 [GRCh38]
ChrX:49105152 [GRCh37]
ChrX:Xp11.23		 uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48224266-52744574)x2 copy number gain not provided [RCV000847795] ChrX:48224266..52744574 [GRCh37]
ChrX:Xp11.23-11.22		 pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32		 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
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
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_014008.5(CCDC22):c.1469G>A (p.Arg490Gln) single nucleotide variant not provided [RCV001200325] ChrX:49248854 [GRCh38]
ChrX:49105315 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NC_000023.10:g.(?_47001716)_(50659607_?)dup duplication Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders [RCV003122411]|Neurodegeneration with brain iron accumulation 5 [RCV003105408]|SLC35A2-congenital disorder of glycosylation [RCV003122412] ChrX:47001716..50659607 [GRCh37]
ChrX:Xp11.23-11.22		 uncertain significance
NM_014008.5(CCDC22):c.1822G>A (p.Glu608Lys) single nucleotide variant not provided [RCV003230128] ChrX:49250199 [GRCh38]
ChrX:49106660 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.1730C>T (p.Thr577Ile) single nucleotide variant Ritscher-Schinzel syndrome 2 [RCV001843592]|not provided [RCV001556323] ChrX:49249685 [GRCh38]
ChrX:49106146 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.586G>A (p.Val196Met) single nucleotide variant not provided [RCV001557349] ChrX:49243334 [GRCh38]
ChrX:49099800 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_014008.5(CCDC22):c.1038C>T (p.Arg346=) single nucleotide variant not provided [RCV000910612] ChrX:49247714 [GRCh38]
ChrX:49104175 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_014008.5(CCDC22):c.573A>C (p.Pro191=) single nucleotide variant not provided [RCV000908492] ChrX:49243321 [GRCh38]
ChrX:49099787 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_014008.5(CCDC22):c.1761C>T (p.Leu587=) single nucleotide variant not provided [RCV000936938] ChrX:49249716 [GRCh38]
ChrX:49106177 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_014008.5(CCDC22):c.240T>C (p.Tyr80=) single nucleotide variant not provided [RCV000916954] ChrX:49242027 [GRCh38]
ChrX:49098493 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_014008.5(CCDC22):c.1651G>A (p.Asp551Asn) single nucleotide variant not provided [RCV000886892] ChrX:49249524 [GRCh38]
ChrX:49105985 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_014008.5(CCDC22):c.389T>C (p.Ile130Thr) single nucleotide variant not provided [RCV000885575] ChrX:49242913 [GRCh38]
ChrX:49099379 [GRCh37]
ChrX:Xp11.23		 benign
NM_014008.5(CCDC22):c.93T>G (p.Thr31=) single nucleotide variant not provided [RCV000911770] ChrX:49237128 [GRCh38]
ChrX:49093595 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_014008.5(CCDC22):c.511G>A (p.Val171Met) single nucleotide variant CCDC22-related condition [RCV003970381]|Inborn genetic diseases [RCV002540849]|not provided [RCV000912937] ChrX:49243160 [GRCh38]
ChrX:49099626 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_014008.5(CCDC22):c.1064T>C (p.Met355Thr) single nucleotide variant not provided [RCV001560951] ChrX:49247740 [GRCh38]
ChrX:49104201 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_014008.5(CCDC22):c.553G>A (p.Ala185Thr) single nucleotide variant not provided [RCV001573956] ChrX:49243301 [GRCh38]
ChrX:49099767 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_014008.5(CCDC22):c.142G>A (p.Ala48Thr) single nucleotide variant Inborn genetic diseases [RCV003355861]|Ritscher-Schinzel syndrome 2 [RCV002472302]|not provided [RCV003883830] ChrX:49237177 [GRCh38]
ChrX:49093644 [GRCh37]
ChrX:Xp11.23		 likely benign|uncertain significance
NM_014009.4(FOXP3):c.*878A>G single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001065770] ChrX:49250456 [GRCh38]
ChrX:49106917 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.1113C>T (p.His371=) single nucleotide variant not provided [RCV001532682] ChrX:49248211 [GRCh38]
ChrX:49104672 [GRCh37]
ChrX:Xp11.23		 likely benign
GRCh37/hg19 Xp11.23-11.22(chrX:48307437-50657313)x3 copy number gain not provided [RCV001007303] ChrX:48307437..50657313 [GRCh37]
ChrX:Xp11.23-11.22		 pathogenic
NM_014008.5(CCDC22):c.1867C>T (p.Arg623Trp) single nucleotide variant Ritscher-Schinzel syndrome 2 [RCV001253075] ChrX:49250244 [GRCh38]
ChrX:49106705 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.1636-6G>C single nucleotide variant Ritscher-Schinzel syndrome 2 [RCV001253249] ChrX:49249503 [GRCh38]
ChrX:49105964 [GRCh37]
ChrX:Xp11.23		 uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48102202-52685635)x2 copy number gain not provided [RCV001258953] ChrX:48102202..52685635 [GRCh37]
ChrX:Xp11.23-11.22		 pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48178413-52686510)x2 copy number gain not provided [RCV001258954] ChrX:48178413..52686510 [GRCh37]
ChrX:Xp11.23-11.22		 pathogenic
NM_014008.5(CCDC22):c.1343G>T (p.Arg448Leu) single nucleotide variant Ritscher-Schinzel syndrome 2 [RCV001334724] ChrX:49248646 [GRCh38]
ChrX:49105107 [GRCh37]
ChrX:Xp11.23		 uncertain significance
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
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
Single allele complex Turner syndrome [RCV002280670] ChrX:590376..56315041 [GRCh37]
ChrX:Xp22.33-11.21		 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
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_014008.5(CCDC22):c.1852G>A (p.Ala618Thr) single nucleotide variant not provided [RCV002280538] ChrX:49250229 [GRCh38]
ChrX:49106690 [GRCh37]
ChrX:Xp11.23		 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_014008.5(CCDC22):c.110C>T (p.Ala37Val) single nucleotide variant Ritscher-Schinzel syndrome 2 [RCV001332993] ChrX:49237145 [GRCh38]
ChrX:49093612 [GRCh37]
ChrX:Xp11.23		 uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:47179068-54424785)x2 copy number gain not provided [RCV001537899] ChrX:47179068..54424785 [GRCh37]
ChrX:Xp11.23-11.22		 pathogenic
NM_014008.5(CCDC22):c.134T>A (p.Ile45Asn) single nucleotide variant not provided [RCV001311074] ChrX:49237169 [GRCh38]
ChrX:49093636 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.514_515delinsAG (p.Pro172Arg) indel Ritscher-Schinzel syndrome 2 [RCV001290254] ChrX:49243163..49243164 [GRCh38]
ChrX:49099629..49099630 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NC_000023.10:g.(?_48382160)_(49856876_?)dup duplication Neurodegeneration with brain iron accumulation 5 [RCV001305099]|SLC35A2-congenital disorder of glycosylation [RCV001308190] ChrX:48382160..49856876 [GRCh37]
ChrX:Xp11.23-11.22		 uncertain significance
NM_014008.5(CCDC22):c.1610C>T (p.Ala537Val) single nucleotide variant Ritscher-Schinzel syndrome 2 [RCV001332994] ChrX:49249237 [GRCh38]
ChrX:49105698 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.383G>A (p.Arg128Gln) single nucleotide variant Ritscher-Schinzel syndrome 2 [RCV001334725] ChrX:49242907 [GRCh38]
ChrX:49099373 [GRCh37]
ChrX:Xp11.23		 uncertain significance
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_014008.5(CCDC22):c.1873C>T (p.Arg625Trp) single nucleotide variant Ritscher-Schinzel syndrome 2 [RCV002503205]|not provided [RCV001767305] ChrX:49250250 [GRCh38]
ChrX:49106711 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.761A>C (p.Glu254Ala) single nucleotide variant not provided [RCV001763383] ChrX:49246777 [GRCh38]
ChrX:49103238 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.797C>A (p.Pro266His) single nucleotide variant not provided [RCV001772888] ChrX:49246813 [GRCh38]
ChrX:49103274 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.1270C>T (p.His424Tyr) single nucleotide variant not provided [RCV001764877] ChrX:49248464 [GRCh38]
ChrX:49104925 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.1331T>C (p.Leu444Pro) single nucleotide variant not provided [RCV001773895] ChrX:49248634 [GRCh38]
ChrX:49105095 [GRCh37]
ChrX:Xp11.23		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number gain 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_014008.5(CCDC22):c.1212+4G>T single nucleotide variant CCDC22-related condition [RCV003948739]|Ritscher-Schinzel syndrome 2 [RCV001814664] ChrX:49248314 [GRCh38]
ChrX:49104775 [GRCh37]
ChrX:Xp11.23		 likely benign|uncertain significance
NM_014009.4(FOXP3):c.*867G>C single nucleotide variant not specified [RCV001820697] ChrX:49250467 [GRCh38]
ChrX:49106928 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.81C>T (p.Arg27=) single nucleotide variant not specified [RCV001817210] ChrX:49237116 [GRCh38]
ChrX:49093583 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_014008.5(CCDC22):c.681C>G (p.Asp227Glu) single nucleotide variant not specified [RCV001819654] ChrX:49243429 [GRCh38]
ChrX:49099895 [GRCh37]
ChrX:Xp11.23		 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_014008.5(CCDC22):c.427G>A (p.Val143Ile) single nucleotide variant not provided [RCV002051956] ChrX:49242951 [GRCh38]
ChrX:49099417 [GRCh37]
ChrX:Xp11.23		 likely benign|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
NM_014008.5(CCDC22):c.488C>T (p.Pro163Leu) single nucleotide variant not provided [RCV001961222] ChrX:49243137 [GRCh38]
ChrX:49099603 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NC_000023.10:g.(?_48932462)_(49840657_?)dup duplication Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001922920] ChrX:48932462..49840657 [GRCh37]
ChrX:Xp11.23-11.22		 uncertain significance
NM_014008.5(CCDC22):c.2T>C (p.Met1Thr) single nucleotide variant CCDC22-related condition [RCV003968693]|Ritscher-Schinzel syndrome 2 [RCV002086751] ChrX:49235638 [GRCh38]
ChrX:49092098 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NC_000023.10:g.(?_48368209)_(51241672_?)dup duplication X-linked severe congenital neutropenia [RCV003111119] ChrX:48368209..51241672 [GRCh37]
ChrX:Xp11.23-11.22		 uncertain significance
NC_000023.10:g.(?_46466387)_(50659607_?)del deletion Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV003116676] ChrX:46466387..50659607 [GRCh37]
ChrX:Xp11.23-11.22		 pathogenic
NC_000023.10:g.(?_48368209)_(51241672_?)del deletion not provided [RCV003116321] ChrX:48368209..51241672 [GRCh37]
ChrX:Xp11.23-11.22		 pathogenic
NM_014008.5(CCDC22):c.1852G>C (p.Ala618Pro) single nucleotide variant Ritscher-Schinzel syndrome 2 [RCV003130911] ChrX:49250229 [GRCh38]
ChrX:49106690 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.1490T>G (p.Ile497Ser) single nucleotide variant not specified [RCV002247056] ChrX:49248875 [GRCh38]
ChrX:49105336 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.1882T>C (p.Ter628Arg) single nucleotide variant Ritscher-Schinzel syndrome 2 [RCV002226832] ChrX:49250259 [GRCh38]
ChrX:49106720 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NC_000023.10:g.(?_46466387)_(51241672_?)del deletion not provided [RCV003154905] ChrX:46466387..51241672 [GRCh37]
ChrX:Xp11.23-11.22		 pathogenic
NM_014008.5(CCDC22):c.622G>A (p.Glu208Lys) single nucleotide variant Ritscher-Schinzel syndrome 2 [RCV002273283] ChrX:49243370 [GRCh38]
ChrX:49099836 [GRCh37]
ChrX:Xp11.23		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_014008.5(CCDC22):c.1513C>G (p.Arg505Gly) single nucleotide variant not provided [RCV002269734] ChrX:49248898 [GRCh38]
ChrX:49105359 [GRCh37]
ChrX:Xp11.23		 uncertain significance
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28		 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_014008.5(CCDC22):c.190C>G (p.Arg64Gly) single nucleotide variant Ritscher-Schinzel syndrome 2 [RCV003148192] ChrX:49237225 [GRCh38]
ChrX:49093692 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.1693G>A (p.Glu565Lys) single nucleotide variant Inborn genetic diseases [RCV003280497] ChrX:49249566 [GRCh38]
ChrX:49106027 [GRCh37]
ChrX:Xp11.23		 uncertain significance
GRCh37/hg19 Xp11.4-11.22(chrX:39525562-52832596)x3 copy number gain not provided [RCV002474503] ChrX:39525562..52832596 [GRCh37]
ChrX:Xp11.4-11.22		 pathogenic
NM_014008.5(CCDC22):c.319C>T (p.Arg107Cys) single nucleotide variant Inborn genetic diseases [RCV003164740]|Ritscher-Schinzel syndrome 2 [RCV002471598] ChrX:49242106 [GRCh38]
ChrX:49098572 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.1222G>A (p.Glu408Lys) single nucleotide variant Ritscher-Schinzel syndrome 2 [RCV003144687] ChrX:49248416 [GRCh38]
ChrX:49104877 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.1000C>G (p.Leu334Val) single nucleotide variant Ritscher-Schinzel syndrome 2 [RCV003144693] ChrX:49247676 [GRCh38]
ChrX:49104137 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.1862T>G (p.Leu621Arg) single nucleotide variant Ritscher-Schinzel syndrome 2 [RCV003144694] ChrX:49250239 [GRCh38]
ChrX:49106700 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.1385C>T (p.Ala462Val) single nucleotide variant Inborn genetic diseases [RCV002737162] ChrX:49248688 [GRCh38]
ChrX:49105149 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.1108C>T (p.Arg370Trp) single nucleotide variant Inborn genetic diseases [RCV002691594] ChrX:49248206 [GRCh38]
ChrX:49104667 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.1162C>T (p.Arg388Cys) single nucleotide variant Inborn genetic diseases [RCV002977708] ChrX:49248260 [GRCh38]
ChrX:49104721 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.977C>T (p.Thr326Met) single nucleotide variant Inborn genetic diseases [RCV002713549] ChrX:49247653 [GRCh38]
ChrX:49104114 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.1333G>C (p.Glu445Gln) single nucleotide variant Inborn genetic diseases [RCV002713194] ChrX:49248636 [GRCh38]
ChrX:49105097 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.653C>T (p.Thr218Met) single nucleotide variant Inborn genetic diseases [RCV003006529] ChrX:49243401 [GRCh38]
ChrX:49099867 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.973G>T (p.Val325Phe) single nucleotide variant Inborn genetic diseases [RCV002645337]|Ritscher-Schinzel syndrome 2 [RCV003143531] ChrX:49247649 [GRCh38]
ChrX:49104110 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.157C>T (p.Leu53Phe) single nucleotide variant Inborn genetic diseases [RCV002763202] ChrX:49237192 [GRCh38]
ChrX:49093659 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.1134G>C (p.Glu378Asp) single nucleotide variant Inborn genetic diseases [RCV002936296]|not provided [RCV003456557] ChrX:49248232 [GRCh38]
ChrX:49104693 [GRCh37]
ChrX:Xp11.23		 likely benign|uncertain significance
NM_014008.5(CCDC22):c.382C>T (p.Arg128Trp) single nucleotide variant Ritscher-Schinzel syndrome 2 [RCV003144689] ChrX:49242906 [GRCh38]
ChrX:49099372 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.1610C>G (p.Ala537Gly) single nucleotide variant Ritscher-Schinzel syndrome 2 [RCV003144691] ChrX:49249237 [GRCh38]
ChrX:49105698 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.552G>C (p.Gln184His) single nucleotide variant Ritscher-Schinzel syndrome 2 [RCV003144688] ChrX:49243300 [GRCh38]
ChrX:49099766 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.1501G>A (p.Val501Met) single nucleotide variant Ritscher-Schinzel syndrome 2 [RCV003144692] ChrX:49248886 [GRCh38]
ChrX:49105347 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.542G>A (p.Arg181Gln) single nucleotide variant Ritscher-Schinzel syndrome 2 [RCV003144695] ChrX:49243290 [GRCh38]
ChrX:49099756 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.559C>T (p.Pro187Ser) single nucleotide variant Ritscher-Schinzel syndrome 2 [RCV003144690] ChrX:49243307 [GRCh38]
ChrX:49099773 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.1486C>T (p.Arg496Cys) single nucleotide variant Inborn genetic diseases [RCV003300391] ChrX:49248871 [GRCh38]
ChrX:49105332 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.49A>C (p.Thr17Pro) single nucleotide variant Ritscher-Schinzel syndrome 2 [RCV003140265] ChrX:49235685 [GRCh38]
ChrX:49092145 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.1585T>C (p.Ser529Pro) single nucleotide variant Inborn genetic diseases [RCV003366484] ChrX:49249212 [GRCh38]
ChrX:49105673 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.1586C>A (p.Ser529Tyr) single nucleotide variant Inborn genetic diseases [RCV003366485] ChrX:49249213 [GRCh38]
ChrX:49105674 [GRCh37]
ChrX:Xp11.23		 uncertain significance
GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1 copy number loss not provided [RCV003483920] ChrX:36355238..54106257 [GRCh37]
ChrX:Xp21.1-11.22		 pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1 copy number loss not provided [RCV003483407] ChrX:2696762..53113314 [GRCh37]
ChrX:Xp22.33-11.22		 pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48224455-52832596)x3 copy number gain not provided [RCV003485288] ChrX:48224455..52832596 [GRCh37]
ChrX:Xp11.23-11.22		 pathogenic
NM_014008.5(CCDC22):c.284C>T (p.Pro95Leu) single nucleotide variant Ritscher-Schinzel syndrome 2 [RCV003448833] ChrX:49242071 [GRCh38]
ChrX:49098537 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.473C>T (p.Ser158Leu) single nucleotide variant not provided [RCV003438298] ChrX:49243122 [GRCh38]
ChrX:49099588 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_014008.5(CCDC22):c.1167G>A (p.Ala389=) single nucleotide variant not provided [RCV003438299] ChrX:49248265 [GRCh38]
ChrX:49104726 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_014008.5(CCDC22):c.124C>T (p.Leu42=) single nucleotide variant not provided [RCV003438296] ChrX:49237159 [GRCh38]
ChrX:49093626 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_014008.5(CCDC22):c.421C>A (p.Pro141Thr) single nucleotide variant CCDC22-related condition [RCV003402768] ChrX:49242945 [GRCh38]
ChrX:49099411 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.1635+3G>A single nucleotide variant not provided [RCV003438301] ChrX:49249265 [GRCh38]
ChrX:49105726 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_014008.5(CCDC22):c.909+122G>A single nucleotide variant Ritscher-Schinzel syndrome 2 [RCV003397186] ChrX:49247047 [GRCh38]
ChrX:49103508 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.320G>A (p.Arg107His) single nucleotide variant not provided [RCV003438297] ChrX:49242107 [GRCh38]
ChrX:49098573 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.1233C>T (p.Ala411=) single nucleotide variant not provided [RCV003438300] ChrX:49248427 [GRCh38]
ChrX:49104888 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_014008.5(CCDC22):c.1874G>A (p.Arg625Gln) single nucleotide variant not provided [RCV003438302] ChrX:49250251 [GRCh38]
ChrX:49106712 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.1705C>G (p.Gln569Glu) single nucleotide variant CCDC22-related condition [RCV003402864] ChrX:49249660 [GRCh38]
ChrX:49106121 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.127C>T (p.Arg43Cys) single nucleotide variant not specified [RCV003490800] ChrX:49237162 [GRCh38]
ChrX:49093629 [GRCh37]
ChrX:Xp11.23		 uncertain significance
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114) copy number loss not specified [RCV003986240] ChrX:168546..58364114 [GRCh37]
ChrX:Xp22.33-11.1		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170) copy number loss not specified [RCV003986200] ChrX:168546..55653170 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NM_014008.5(CCDC22):c.873C>T (p.Ser291=) single nucleotide variant not provided [RCV003887355] ChrX:49246889 [GRCh38]
ChrX:49103350 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_014008.5(CCDC22):c.51-9C>T single nucleotide variant CCDC22-related condition [RCV003971476] ChrX:49237077 [GRCh38]
ChrX:49093544 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_014008.5(CCDC22):c.956C>A (p.Ser319Tyr) single nucleotide variant CCDC22-related condition [RCV003976363] ChrX:49247542 [GRCh38]
ChrX:49104003 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014008.5(CCDC22):c.1036C>G (p.Arg346Gly) single nucleotide variant not provided [RCV003884843] ChrX:49247712 [GRCh38]
ChrX:49104173 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_014008.5(CCDC22):c.1287C>T (p.Leu429=) single nucleotide variant CCDC22-related condition [RCV003916992] ChrX:49248481 [GRCh38]
ChrX:49104942 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_014008.5(CCDC22):c.1819C>T (p.Arg607Trp) single nucleotide variant CCDC22-related condition [RCV003946786] ChrX:49250196 [GRCh38]
ChrX:49106657 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_014008.5(CCDC22):c.803A>G (p.Gln268Arg) single nucleotide variant not provided [RCV003884009] ChrX:49246819 [GRCh38]
ChrX:49103280 [GRCh37]
ChrX:Xp11.23		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1139
Count of miRNA genes:692
Interacting mature miRNAs:795
Transcripts:ENST00000376227, ENST00000490300, ENST00000496651
Prediction methods:Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
DXS1208  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X49,092,261 - 49,092,392UniSTSGRCh37
GRCh37X49,092,141 - 49,092,389UniSTSGRCh37
Build 36X48,979,205 - 48,979,336RGDNCBI36
CeleraX52,571,981 - 52,572,229UniSTS
CeleraX52,571,978 - 52,572,109RGD
Cytogenetic MapXp11.23UniSTS
HuRefX46,748,657 - 46,748,788UniSTS
HuRefX46,748,537 - 46,748,785UniSTS
Marshfield Genetic MapX50.33RGD
Genethon Genetic MapX82.5UniSTS
Stanford-G3 RH MapX1791.0UniSTS
NCBI RH MapX227.7UniSTS
GeneMap99-G3 RH MapX995.0UniSTS
RH99318  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X49,106,650 - 49,106,816UniSTSGRCh37
Build 36X48,993,594 - 48,993,760RGDNCBI36
CeleraX52,557,553 - 52,557,719RGD
Cytogenetic MapXp11.23UniSTS
HuRefX46,763,085 - 46,763,251UniSTS
GeneMap99-GB4 RH MapX147.27UniSTS
SHGC-132193  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X49,092,223 - 49,092,413UniSTSGRCh37
Build 36X48,979,167 - 48,979,357RGDNCBI36
CeleraX52,571,957 - 52,572,147RGD
Cytogenetic MapXp11.23UniSTS
HuRefX46,748,619 - 46,748,809UniSTS
TNG Radiation Hybrid MapX12531.0UniSTS
DXS9795  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X49,100,561 - 49,100,677UniSTSGRCh37
Build 36X48,987,505 - 48,987,621RGDNCBI36
CeleraX52,563,693 - 52,563,809RGD
Cytogenetic MapXp11.23UniSTS
HuRefX46,756,958 - 46,757,074UniSTS
DXS1208  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp11.23UniSTS
Marshfield Genetic MapX50.33UniSTS
Genethon Genetic MapX82.5UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2395 2248 1438 350 1802 193 4137 1620 2470 352 1176 1595 169 1151 2579 3
Low 43 743 288 274 148 272 220 577 1264 67 284 18 5 1 53 209 3 2
Below cutoff 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_430506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC232271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF235097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ005890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG912845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM146102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC340647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000376227   ⟹   ENSP00000365401
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX49,235,470 - 49,250,520 (+)Ensembl
RefSeq Acc Id: ENST00000490300
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX49,236,893 - 49,243,346 (+)Ensembl
RefSeq Acc Id: ENST00000496651
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX49,235,496 - 49,243,466 (+)Ensembl
RefSeq Acc Id: NM_014008   ⟹   NP_054727
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X49,235,470 - 49,250,520 (+)NCBI
GRCh37X49,091,927 - 49,106,987 (+)RGD
GRCh37X49,091,927 - 49,106,987 (+)NCBI
Build 36X48,978,885 - 48,994,341 (+)NCBI Archive
CeleraX52,557,382 - 52,572,443 (-)RGD
HuRefX46,748,323 - 46,763,422 (+)RGD
CHM1_1X49,124,228 - 49,139,289 (+)NCBI
T2T-CHM13v2.0X48,647,330 - 48,662,382 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005272599   ⟹   XP_005272656
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X49,235,470 - 49,250,520 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054326912   ⟹   XP_054182887
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X48,646,429 - 48,662,382 (+)NCBI
RefSeq Acc Id: XM_054326913   ⟹   XP_054182888
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X48,646,429 - 48,662,382 (+)NCBI
RefSeq Acc Id: XR_008485477
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X48,646,429 - 48,660,374 (+)NCBI
RefSeq Acc Id: XR_430506
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X49,235,470 - 49,248,512 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_054727   ⟸   NM_014008
- UniProtKB: A8K7G1 (UniProtKB/Swiss-Prot),   O60826 (UniProtKB/Swiss-Prot),   B7ZAR0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005272656   ⟸   XM_005272599
- Peptide Label: isoform X1
- UniProtKB: B7ZAR0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000365401   ⟸   ENST00000376227
RefSeq Acc Id: XP_054182887   ⟸   XM_054326912
- Peptide Label: isoform X2
- UniProtKB: O60826 (UniProtKB/Swiss-Prot),   A8K7G1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054182888   ⟸   XM_054326913
- Peptide Label: isoform X1
Protein Domains
CCDC22 coiled-coil   CCDC22 N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O60826-F1-model_v2 AlphaFold O60826 1-627 view protein structure

Promoters
RGD ID:6808582
Promoter ID:HG_KWN:66757
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000376227,   OTTHUMT00000060823,   UC004DNC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X48,978,674 - 48,979,174 (+)MPROMDB
RGD ID:6808564
Promoter ID:HG_KWN:66758
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000060824
Position:
Human AssemblyChrPosition (strand)Source
Build 36X48,980,334 - 48,980,834 (+)MPROMDB
RGD ID:6808565
Promoter ID:HG_KWN:66759
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:OTTHUMT00000060825
Position:
Human AssemblyChrPosition (strand)Source
Build 36X48,991,346 - 48,991,846 (+)MPROMDB
RGD ID:13605302
Promoter ID:EPDNEW_H28835
Type:initiation region
Name:CCDC22_1
Description:coiled-coil domain containing 22
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X49,235,470 - 49,235,530EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28909 AgrOrtholog
COSMIC CCDC22 COSMIC
Ensembl Genes ENSG00000101997 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000376227 ENTREZGENE
  ENST00000376227.4 UniProtKB/Swiss-Prot
GTEx ENSG00000101997 GTEx
HGNC ID HGNC:28909 ENTREZGENE
Human Proteome Map CCDC22 Human Proteome Map
InterPro CCDC22 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CCDC22_CC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CCDC22_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:28952 UniProtKB/Swiss-Prot
NCBI Gene 28952 ENTREZGENE
OMIM 300859 OMIM
PANTHER COILED-COIL DOMAIN-CONTAINING PROTEIN 22 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15668 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CCDC22_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DUF812 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134947763 PharmGKB
UniProt A8K7G1 ENTREZGENE
  B7ZAR0 ENTREZGENE, UniProtKB/TrEMBL
  CCD22_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A8K7G1 UniProtKB/Swiss-Prot