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

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Gene: CCDC22 (coiled-coil domain containing 22) Homo sapiens
Analyze
Symbol: CCDC22
Name: coiled-coil domain containing 22
RGD ID: 1352329
HGNC Page HGNC
Description: Exhibits cullin family protein binding activity. Involved in several processes, including cytoplasmic sequestering of NF-kappaB; regulation of I-kappaB kinase/NF-kappaB signaling; and vesicle-mediated transport to the plasma membrane. Predicted to localize to cytosol and nucleoplasm. Implicated in Ritscher-Schinzel syndrome 2.
Type: protein-coding
RefSeq Status: REVIEWED
Also 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 Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX49,235,470 - 49,250,520 (+)EnsemblGRCh38hg38GRCh38
GRCh38X49,235,470 - 49,250,526 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X49,091,930 - 49,106,981 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,978,885 - 48,994,341 (+)NCBINCBI36hg18NCBI36
Build 34X48,848,381 - 48,863,351NCBI
CeleraX52,557,382 - 52,572,443 (-)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX46,748,323 - 46,763,422 (+)NCBIHuRef
CHM1_1X49,124,228 - 49,139,289 (+)NCBICHM1_1
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 the fontanelles or cranial sutures  (IAGP)
Adrenal hypoplasia  (IAGP)
Anal atresia  (IAGP)
Aortic valve stenosis  (IAGP)
Aplasia/Hypoplasia of the nipples  (IAGP)
Atrial septal defect  (IAGP)
Atrioventricular canal defect  (IAGP)
Brachydactyly  (IAGP)
Broad forehead  (IAGP)
Broad hallux  (IAGP)
Broad neck  (IAGP)
Camptodactyly  (IAGP)
Chorioretinal coloboma  (IAGP)
Cleft palate  (IAGP)
Clinodactyly  (IAGP)
Cryptorchidism  (IAGP)
Dandy-Walker malformation  (IAGP)
Death in infancy  (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)
Generalized hypotonia  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hand polydactyly  (IAGP)
Hemivertebrae  (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)
Neurological speech impairment  (IAGP)
Optic atrophy  (IAGP)
Overlapping toe  (IAGP)
Patent ductus arteriosus  (IAGP)
Poor speech  (IAGP)
Postnatal growth retardation  (IAGP)
Preauricular skin tag  (IAGP)
Prominent occiput  (IAGP)
Protruding tongue  (IAGP)
Pulmonic stenosis  (IAGP)
Recurrent respiratory infections  (IAGP)
Schizophrenia  (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)
Wide nasal bridge  (IAGP)
X-linked recessive inheritance  (IAGP)
References

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  


Genomics

Comparative Map Data
CCDC22
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX49,235,470 - 49,250,520 (+)EnsemblGRCh38hg38GRCh38
GRCh38X49,235,470 - 49,250,526 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X49,091,930 - 49,106,981 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,978,885 - 48,994,341 (+)NCBINCBI36hg18NCBI36
Build 34X48,848,381 - 48,863,351NCBI
CeleraX52,557,382 - 52,572,443 (-)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX46,748,323 - 46,763,422 (+)NCBIHuRef
CHM1_1X49,124,228 - 49,139,289 (+)NCBICHM1_1
Ccdc22
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X7,460,048 - 7,471,659 (-)NCBIGRCm39mm39
GRCm39 EnsemblX7,460,048 - 7,471,756 (-)Ensembl
GRCm38X7,593,809 - 7,605,420 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX7,593,809 - 7,605,517 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X7,170,935 - 7,182,546 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X6,750,770 - 6,762,351 (-)NCBImm8
CeleraX3,866,265 - 3,877,962 (+)NCBICelera
Cytogenetic MapXA1.1NCBI
cM MapX3.42NCBI
Ccdc22
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X14,898,296 - 14,910,244 (+)NCBI
Rnor_6.0 EnsemblX15,742,978 - 15,754,925 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X15,742,978 - 15,754,925 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X16,534,513 - 16,546,460 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X26,939,045 - 26,951,756 (+)NCBIRGSC3.4rn4RGSC3.4
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
PanPan1.1X49,387,980 - 49,402,742 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX49,387,980 - 49,402,742 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X41,535,439 - 41,550,547 (+)NCBIMhudiblu_PPA_v0panPan3
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 (+)NCBI
ROS_Cfam_1.0X42,471,025 - 42,484,896 (+)NCBI
UMICH_Zoey_3.1X42,454,985 - 42,468,855 (+)NCBI
UNSW_CanFamBas_1.0X42,442,443 - 42,456,314 (+)NCBI
UU_Cfam_GSD_1.0X42,537,397 - 42,551,268 (+)NCBI
Ccdc22
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X34,867,310 - 34,877,919 (+)NCBI
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 - 43,307,204 (+)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 - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X46,330,215 - 46,349,978 (+)NCBI
ChlSab1.1 EnsemblX46,335,095 - 46,353,583 (+)Ensembl
Ccdc22
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624893971,688 - 1,008,460 (+)NCBI

Position Markers
DXS1208  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X49,092,141 - 49,092,389UniSTSGRCh37
GRCh37X49,092,261 - 49,092,392UniSTSGRCh37
Build 36X48,979,205 - 48,979,336RGDNCBI36
CeleraX52,571,978 - 52,572,109RGD
CeleraX52,571,981 - 52,572,229UniSTS
Cytogenetic MapXp11.23UniSTS
HuRefX46,748,537 - 46,748,785UniSTS
HuRefX46,748,657 - 46,748,788UniSTS
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

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.


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
  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
  DC340647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000376227   ⟹   ENSP00000365401
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,235,470 - 49,250,520 (+)Ensembl
RefSeq Acc Id: ENST00000490300
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,236,893 - 49,243,346 (+)Ensembl
RefSeq Acc Id: ENST00000496651
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 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
Sequence:
RefSeq Acc Id: XM_005272599   ⟹   XP_005272656
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X49,235,522 - 49,250,526 (+)NCBI
Sequence:
RefSeq Acc Id: XR_430506
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X49,235,522 - 49,250,520 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_054727   ⟸   NM_014008
- UniProtKB: O60826 (UniProtKB/Swiss-Prot),   A0A024QZ03 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005272656   ⟸   XM_005272599
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000365401   ⟸   ENST00000376227

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

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 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 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 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 not provided [RCV000116599]|not specified [RCV000503556] ChrX:49243407 [GRCh38]
ChrX:49099873 [GRCh37]
ChrX:Xp11.23
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
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
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 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 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 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 not provided [RCV000490182] ChrX:49242928 [GRCh38]
ChrX:49099394 [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 Intellectual disability [RCV001252187] ChrX:49242927 [GRCh38]
ChrX:49099393 [GRCh37]
ChrX:Xp11.23
likely benign
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 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 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 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
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 Autistic disorder of childhood onset [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 serum creatine phosphokinase [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] 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
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 not provided [RCV000912937] ChrX:49243160 [GRCh38]
ChrX:49099626 [GRCh37]
ChrX:Xp11.23
likely benign
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
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 Xp22.33-11.21(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
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-CDG [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

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28909 AgrOrtholog
COSMIC CCDC22 COSMIC
Ensembl Genes ENSG00000101997 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000365401 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000376227 ENTREZGENE, 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
KEGG Report hsa:28952 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 28952 ENTREZGENE
OMIM 300859 OMIM
  300963 OMIM
PANTHER PTHR15668 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF812 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134947763 PharmGKB
UniProt A0A024QZ03 ENTREZGENE, UniProtKB/TrEMBL
  CCD22_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A8K7G1 UniProtKB/Swiss-Prot