NCAPH2 (non-SMC condensin II complex subunit H2) - Rat Genome Database

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Gene: NCAPH2 (non-SMC condensin II complex subunit H2) Homo sapiens
Analyze
Symbol: NCAPH2
Name: non-SMC condensin II complex subunit H2
RGD ID: 1601870
HGNC Page HGNC
Description: Predicted to enable chromatin binding activity. Predicted to be involved in meiotic chromosome condensation and nuclear division. Predicted to act upstream of or within T cell differentiation in thymus. Located in cell junction; intercellular bridge; and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 384D8-2; 384D8_6; CAP-H2; CAP-H2 subunit of the condensin II complex; CAPH2; chromosome-associated protein H2; condensin-2 complex subunit H2; CTA-384D8.36; hCAP-H2; kleisin beta; MGC15858; MGC18000; MGC2455; MGC4133; MGC5305; MGC8640; non-SMC condensin II complex, subunit H2
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 Ensembl2250,508,224 - 50,524,780 (+)EnsemblGRCh38hg38GRCh38
GRCh382250,508,218 - 50,524,780 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372250,946,653 - 50,963,209 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362249,293,511 - 49,308,782 (+)NCBINCBI36hg18NCBI36
Celera2234,822,672 - 34,839,236 (+)NCBI
Cytogenetic Map22q13.33NCBI
HuRef2233,837,777 - 33,854,227 (+)NCBIHuRef
CHM1_12250,905,383 - 50,921,946 (+)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
References

Additional References at PubMed
PMID:10493829   PMID:12477932   PMID:12667442   PMID:14532007   PMID:15461802   PMID:16751776   PMID:17268547   PMID:19913121   PMID:19946888   PMID:20139978   PMID:20442714   PMID:20628086  
PMID:21516116   PMID:21873635   PMID:21988832   PMID:23222517   PMID:23956138   PMID:25416956   PMID:25910212   PMID:25921289   PMID:26017022   PMID:26166704   PMID:26186194   PMID:26344197  
PMID:26496610   PMID:26742120   PMID:27107014   PMID:27173435   PMID:27356276   PMID:28514442   PMID:28675297   PMID:28717250   PMID:29028794   PMID:30804502   PMID:31026066   PMID:31091453  
PMID:32296183   PMID:32694731   PMID:32786267   PMID:33001583   PMID:33845483  


Genomics

Comparative Map Data
NCAPH2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2250,508,224 - 50,524,780 (+)EnsemblGRCh38hg38GRCh38
GRCh382250,508,218 - 50,524,780 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372250,946,653 - 50,963,209 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362249,293,511 - 49,308,782 (+)NCBINCBI36hg18NCBI36
Celera2234,822,672 - 34,839,236 (+)NCBI
Cytogenetic Map22q13.33NCBI
HuRef2233,837,777 - 33,854,227 (+)NCBIHuRef
CHM1_12250,905,383 - 50,921,946 (+)NCBICHM1_1
Ncaph2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391589,239,902 - 89,257,053 (+)NCBIGRCm39mm39
GRCm39 Ensembl1589,239,922 - 89,257,029 (+)Ensembl
GRCm381589,355,719 - 89,372,850 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1589,355,719 - 89,372,826 (+)EnsemblGRCm38mm10GRCm38
MGSCv371589,186,153 - 89,203,259 (+)NCBIGRCm37mm9NCBIm37
MGSCv361589,183,539 - 89,200,593 (+)NCBImm8
Celera1591,484,861 - 91,501,969 (+)NCBICelera
Cytogenetic Map15E3NCBI
cM Map1544.84NCBI
Ncaph2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27120,422,926 - 120,439,942 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl7120,422,956 - 120,439,938 (+)Ensembl
Rnor_6.07130,326,597 - 130,343,655 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7130,326,600 - 130,342,493 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07130,011,904 - 130,028,836 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47127,650,768 - 127,666,461 (+)NCBIRGSC3.4rn4RGSC3.4
Celera7116,890,045 - 116,911,675 (+)NCBICelera
Cytogenetic Map7q34NCBI
Ncaph2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495541333,492,348 - 33,503,804 (+)NCBIChiLan1.0ChiLan1.0
NCAPH2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12249,872,496 - 49,881,027 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2249,873,223 - 49,881,027 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02230,754,994 - 30,771,103 (+)NCBIMhudiblu_PPA_v0panPan3
NCAPH2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11016,790,137 - 16,801,851 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1016,741,761 - 16,801,824 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1016,767,846 - 16,779,558 (-)NCBI
ROS_Cfam_1.01017,516,609 - 17,528,431 (-)NCBI
UMICH_Zoey_3.11017,240,896 - 17,252,608 (-)NCBI
UNSW_CanFamBas_1.01017,563,917 - 17,575,625 (-)NCBI
UU_Cfam_GSD_1.01017,696,140 - 17,707,852 (-)NCBI
Ncaph2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945320,877 - 332,110 (-)NCBI
SpeTri2.0NW_004936629320,885 - 327,290 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NCAPH2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl5221,466 - 233,475 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.15222,784 - 233,491 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.25110,546,808 - 110,557,516 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NCAPH2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11932,978,771 - 32,995,055 (+)NCBI
ChlSab1.1 Ensembl1932,978,562 - 32,997,160 (+)Ensembl
Vero_WHO_p1.0NW_02366604592,346,255 - 92,356,666 (-)NCBI
Ncaph2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624752257,885 - 268,971 (-)NCBI

Position Markers
RH92958  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372250,962,980 - 50,963,117UniSTSGRCh37
Build 362249,309,846 - 49,309,983RGDNCBI36
Celera2234,839,007 - 34,839,144RGD
Cytogenetic Map22q13.33UniSTS
HuRef2233,853,998 - 33,854,135UniSTS
GeneMap99-GB4 RH Map22174.97UniSTS
RH103105  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372250,957,940 - 50,958,142UniSTSGRCh37
Build 362249,304,806 - 49,305,008RGDNCBI36
Celera2234,833,967 - 34,834,169RGD
Cytogenetic Map22q13.33UniSTS
HuRef2233,848,958 - 33,849,160UniSTS
GeneMap99-GB4 RH Map22173.93UniSTS
G65740  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372250,954,518 - 50,954,889UniSTSGRCh37
Build 362249,301,384 - 49,301,755RGDNCBI36
Celera2234,830,545 - 34,830,916RGD
Cytogenetic Map22q13.33UniSTS
HuRef2233,845,536 - 33,845,907UniSTS
AL008670  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372250,950,538 - 50,950,715UniSTSGRCh37
Build 362249,297,404 - 49,297,581RGDNCBI36
Celera2234,826,565 - 34,826,742RGD
Cytogenetic Map22q13.33UniSTS
HuRef2233,841,671 - 33,841,848UniSTS
WI-11276  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372250,961,766 - 50,961,896UniSTSGRCh37
Build 362249,308,632 - 49,308,762RGDNCBI36
Celera2234,837,793 - 34,837,923RGD
Cytogenetic Map22q13.33UniSTS
HuRef2233,852,784 - 33,852,914UniSTS
GeneMap99-GB4 RH Map22174.97UniSTS
Whitehead-RH Map22197.2UniSTS
SCO2__5555  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372250,961,970 - 50,962,855UniSTSGRCh37
Build 362249,308,836 - 49,309,721RGDNCBI36
Celera2234,837,997 - 34,838,882RGD
HuRef2233,852,988 - 33,853,873UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3661
Count of miRNA genes:901
Interacting mature miRNAs:1117
Transcripts:ENST00000299821, ENST00000395698, ENST00000395701, ENST00000418794, ENST00000420993, ENST00000518394, ENST00000520297, ENST00000522048, ENST00000522304, ENST00000523045
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


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 2434 2603 1609 512 1707 352 4307 2026 3449 396 1454 1611 175 1 1204 2739 6 2
Low 5 388 117 112 244 113 49 171 285 23 6 2 49
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001185011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005261912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AL021682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM802841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU632273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB498781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ579583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U62317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000299821   ⟹   ENSP00000299821
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,508,260 - 50,523,472 (+)Ensembl
RefSeq Acc Id: ENST00000395698   ⟹   ENSP00000379050
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,508,243 - 50,519,752 (+)Ensembl
RefSeq Acc Id: ENST00000395701   ⟹   ENSP00000379053
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,508,244 - 50,523,472 (+)Ensembl
RefSeq Acc Id: ENST00000418794   ⟹   ENSP00000410480
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,508,259 - 50,518,058 (+)Ensembl
RefSeq Acc Id: ENST00000420993   ⟹   ENSP00000410088
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,508,224 - 50,524,780 (+)Ensembl
RefSeq Acc Id: ENST00000518394   ⟹   ENSP00000429060
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,508,245 - 50,518,276 (+)Ensembl
RefSeq Acc Id: ENST00000520297
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,519,547 - 50,522,418 (+)Ensembl
RefSeq Acc Id: ENST00000522048
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,520,410 - 50,522,569 (+)Ensembl
RefSeq Acc Id: ENST00000522304   ⟹   ENSP00000430944
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,522,525 - 50,523,471 (+)Ensembl
RefSeq Acc Id: ENST00000523045   ⟹   ENSP00000429025
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,508,246 - 50,521,589 (+)Ensembl
RefSeq Acc Id: NM_001185011   ⟹   NP_001171940
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,508,224 - 50,524,780 (+)NCBI
GRCh372250,946,645 - 50,963,209 (+)RGD
Celera2234,822,672 - 34,839,236 (+)RGD
HuRef2233,837,777 - 33,854,227 (+)ENTREZGENE
CHM1_12250,905,383 - 50,921,946 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014551   ⟹   NP_055366
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,508,224 - 50,519,752 (+)NCBI
GRCh372250,946,645 - 50,963,209 (+)RGD
Build 362249,293,511 - 49,305,057 (+)NCBI Archive
Celera2234,822,672 - 34,839,236 (+)RGD
HuRef2233,837,777 - 33,854,227 (+)ENTREZGENE
CHM1_12250,905,383 - 50,916,928 (+)NCBI
Sequence:
RefSeq Acc Id: NM_152299   ⟹   NP_689512
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,508,224 - 50,524,780 (+)NCBI
GRCh372250,946,645 - 50,963,209 (+)RGD
GRCh372250,946,645 - 50,963,209 (+)NCBI
Build 362249,293,511 - 49,308,782 (+)NCBI Archive
Celera2234,822,672 - 34,839,236 (+)RGD
HuRef2233,837,777 - 33,854,227 (+)ENTREZGENE
CHM1_12250,905,383 - 50,921,946 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005261912   ⟹   XP_005261969
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,508,219 - 50,523,473 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530685   ⟹   XP_011528987
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,508,336 - 50,523,473 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028793   ⟹   XP_016884282
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,508,233 - 50,523,474 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001755232
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,508,218 - 50,524,778 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001755233
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,508,218 - 50,523,334 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_689512   ⟸   NM_152299
- Peptide Label: isoform 2
- UniProtKB: Q6IBW4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001171940   ⟸   NM_001185011
- Peptide Label: isoform 3
- UniProtKB: Q6IBW4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_055366   ⟸   NM_014551
- Peptide Label: isoform 1
- UniProtKB: Q6IBW4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005261969   ⟸   XM_005261912
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011528987   ⟸   XM_011530685
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016884282   ⟸   XM_017028793
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000429060   ⟸   ENST00000518394
RefSeq Acc Id: ENSP00000299821   ⟸   ENST00000299821
RefSeq Acc Id: ENSP00000430944   ⟸   ENST00000522304
RefSeq Acc Id: ENSP00000410480   ⟸   ENST00000418794
RefSeq Acc Id: ENSP00000429025   ⟸   ENST00000523045
RefSeq Acc Id: ENSP00000379050   ⟸   ENST00000395698
RefSeq Acc Id: ENSP00000410088   ⟸   ENST00000420993
RefSeq Acc Id: ENSP00000379053   ⟸   ENST00000395701
Protein Domains
CNDH2_C   CNDH2_M   CNDH2_N

Promoters
RGD ID:6800171
Promoter ID:HG_KWN:43392
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001185011,   NM_014551,   NM_152299,   OTTHUMT00000317013,   UC003BLS.2,   UC003BLT.2,   UC003BLU.2,   UC003BLV.2,   UC003BLW.2,   UC003BLY.2,   UC010HBB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362249,292,851 - 49,293,652 (+)MPROMDB
RGD ID:13604554
Promoter ID:EPDNEW_H28461
Type:initiation region
Name:NCAPH2_1
Description:non-SMC condensin II complex subunit H2
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
GRCh382250,508,247 - 50,508,307EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q13.31-13.33(chr22:45239376-50739836)x1 copy number loss See cases [RCV000050935] Chr22:45239376..50739836 [GRCh38]
Chr22:45635257..51178264 [GRCh37]
Chr22:44013921..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:47705262-50739836)x1 copy number loss See cases [RCV000050848] Chr22:47705262..50739836 [GRCh38]
Chr22:48101011..51178264 [GRCh37]
Chr22:46479675..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42138114-50739836)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|See cases [RCV000051370] Chr22:42138114..50739836 [GRCh38]
Chr22:42513525..51178264 [GRCh37]
Chr22:40843471..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1 copy number loss See cases [RCV000051371] Chr22:42433752..50738932 [GRCh38]
Chr22:42829758..51177360 [GRCh37]
Chr22:41159702..49524226 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1 copy number loss See cases [RCV000051407] Chr22:42826246..50739836 [GRCh38]
Chr22:43222252..51178264 [GRCh37]
Chr22:41552196..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1 copy number loss See cases [RCV000051408] Chr22:43807366..50739836 [GRCh38]
Chr22:44203246..51178264 [GRCh37]
Chr22:42534579..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43993654-50739977)x1 copy number loss See cases [RCV000051409] Chr22:43993654..50739977 [GRCh38]
Chr22:44389534..51178405 [GRCh37]
Chr22:42720867..49525271 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44740175-50739836)x1 copy number loss See cases [RCV000051410] Chr22:44740175..50739836 [GRCh38]
Chr22:45136055..51178264 [GRCh37]
Chr22:43514719..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:45648256-50739836)x1 copy number loss See cases [RCV000051411] Chr22:45648256..50739836 [GRCh38]
Chr22:46044136..51178264 [GRCh37]
Chr22:44422800..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:47122613-50739836)x1 copy number loss See cases [RCV000051412] Chr22:47122613..50739836 [GRCh38]
Chr22:47518509..51178264 [GRCh37]
Chr22:45897173..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:47234701-50739836)x1 copy number loss See cases [RCV000051413] Chr22:47234701..50739836 [GRCh38]
Chr22:47630451..51178264 [GRCh37]
Chr22:46009115..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48138038-50739836)x1 copy number loss See cases [RCV000051440] Chr22:48138038..50739836 [GRCh38]
Chr22:48533855..51178264 [GRCh37]
Chr22:46912519..49525130 [NCBI36]
Chr22:22q13.32-13.33
pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48423668-50739836)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051441]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051441]|See cases [RCV000051441] Chr22:48423668..50739836 [GRCh38]
Chr22:48819480..51178264 [GRCh37]
Chr22:47198144..49525130 [NCBI36]
Chr22:22q13.32-13.33
pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48654672-50739836)x1 copy number loss See cases [RCV000051442] Chr22:48654672..50739836 [GRCh38]
Chr22:49050484..51178264 [GRCh37]
Chr22:47436920..49525130 [NCBI36]
Chr22:22q13.32-13.33
pathogenic
GRCh38/hg38 22q13.33(chr22:49395349-50738932)x1 copy number loss See cases [RCV000051443] Chr22:49395349..50738932 [GRCh38]
Chr22:49788999..51177360 [GRCh37]
Chr22:48175003..49524226 [NCBI36]
Chr22:22q13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46065705-50739836)x1 copy number loss See cases [RCV000051098] Chr22:46065705..50739836 [GRCh38]
Chr22:46461585..51178264 [GRCh37]
Chr22:44840249..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3 copy number gain See cases [RCV000051686] Chr22:42599757..50725241 [GRCh38]
Chr22:42995763..51163669 [GRCh37]
Chr22:41325707..49510535 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3 copy number gain See cases [RCV000051687] Chr22:42653747..50739836 [GRCh38]
Chr22:43049753..51178264 [GRCh37]
Chr22:41379697..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44700812-50739836)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|See cases [RCV000051688] Chr22:44700812..50739836 [GRCh38]
Chr22:45096692..51178264 [GRCh37]
Chr22:43475356..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44811200-50739836)x3 copy number gain See cases [RCV000051689] Chr22:44811200..50739836 [GRCh38]
Chr22:45207080..51178264 [GRCh37]
Chr22:43585744..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q13.33(chr22:50368887-50599372)x3 copy number gain See cases [RCV000052894] Chr22:50368887..50599372 [GRCh38]
Chr22:50807316..51037801 [GRCh37]
Chr22:49154182..49384667 [NCBI36]
Chr22:22q13.33
uncertain significance
NM_152299.3(NCAPH2):c.623C>A (p.Ser208Tyr) single nucleotide variant Malignant melanoma [RCV000063935] Chr22:50518255 [GRCh38]
Chr22:50956684 [GRCh37]
Chr22:49303550 [NCBI36]
Chr22:22q13.33
not provided
NM_152299.4(NCAPH2):c.*880G>A single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency [RCV000006032]|Myopia 6 [RCV000043618]|not provided [RCV001390766] Chr22:50524255 [GRCh38]
Chr22:50962684 [GRCh37]
Chr22:22q13.33
pathogenic
NM_152299.4(NCAPH2):c.*363G>A single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency [RCV000006033] Chr22:50523738 [GRCh38]
Chr22:50962167 [GRCh37]
Chr22:22q13.33
pathogenic
NM_152299.4(NCAPH2):c.*526G>A single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency [RCV000006034] Chr22:50523901 [GRCh38]
Chr22:50962330 [GRCh37]
Chr22:22q13.33
pathogenic
NM_152299.4(NCAPH2):c.*769G>A single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency [RCV000006036] Chr22:50524144 [GRCh38]
Chr22:50962573 [GRCh37]
Chr22:22q13.33
pathogenic
NM_152299.4(NCAPH2):c.*639C>T single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency [RCV000006038] Chr22:50524014 [GRCh38]
Chr22:50962443 [GRCh37]
Chr22:22q13.33
pathogenic
NM_152299.4(NCAPH2):c.*930C>T single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency [RCV000006039] Chr22:50524305 [GRCh38]
Chr22:50962734 [GRCh37]
Chr22:22q13.33
pathogenic
NM_152299.4(NCAPH2):c.*619C>T single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency [RCV000006035]|Myopia 6 [RCV000043619]|Seizures [RCV000626777]|not provided [RCV000198477] Chr22:50523994 [GRCh38]
Chr22:50962423 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic
NM_152299.4(NCAPH2):c.*696C>T single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency [RCV001149870]|Mitochondrial complex IV deficiency [RCV001149871]|Myopia 6 [RCV000043620]|not provided [RCV000872109] Chr22:50524071 [GRCh38]
Chr22:50962500 [GRCh37]
Chr22:22q13.33
pathogenic|benign|uncertain significance
NM_005138.3(SCO2):c.59G>C (p.Arg20Pro) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency [RCV001148413]|Fatal Infantile Cardioencephalomyopathy [RCV000374348]|Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000271220]|Mitochondrial complex IV deficiency [RCV000338357]|not provided [RCV000676291]|not specified [RCV000128012] Chr22:50524353 [GRCh38]
Chr22:50962782 [GRCh37]
Chr22:22q13.33
benign
NM_152299.4(NCAPH2):c.*836G>A single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency [RCV000324221]|Mitochondrial complex IV deficiency [RCV000264422]|none provided [RCV001289888]|not provided [RCV000416073]|not specified [RCV000128013] Chr22:50524211 [GRCh38]
Chr22:50962640 [GRCh37]
Chr22:22q13.33
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152299.4(NCAPH2):c.*710G>A single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency [RCV001149872]|Fatal Infantile Cardioencephalomyopathy [RCV000370305]|Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000365573]|Mitochondrial complex IV deficiency [RCV000310916]|not provided [RCV000676290]|not specified [RCV000128014] Chr22:50524085 [GRCh38]
Chr22:50962514 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_152299.4(NCAPH2):c.*455G>A single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency [RCV001148306]|Fatal Infantile Cardioencephalomyopathy [RCV000406575]|Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000324968]|Mitochondrial complex IV deficiency [RCV000336884]|not provided [RCV000676289]|not specified [RCV000128015] Chr22:50523830 [GRCh38]
Chr22:50962259 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_005138.3(SCO2):c.633A>C (p.Ala211=) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency [RCV001148305]|Fatal Infantile Cardioencephalomyopathy [RCV000404245]|Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000269901]|Mitochondrial complex IV deficiency [RCV000300513]|not provided [RCV000676288]|not specified [RCV000128016] Chr22:50523779 [GRCh38]
Chr22:50962208 [GRCh37]
Chr22:22q13.33
benign
NM_152299.4(NCAPH2):c.*274G>T single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency [RCV001145437]|Fatal Infantile Cardioencephalomyopathy [RCV000380439]|Mitochondrial complex IV deficiency [RCV000339909]|not provided [RCV000676287]|not specified [RCV000128017] Chr22:50523649 [GRCh38]
Chr22:50962078 [GRCh37]
Chr22:22q13.33
benign|likely benign|uncertain significance
NM_152299.4(NCAPH2):c.*261G>A single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency [RCV001145436]|Fatal Infantile Cardioencephalomyopathy [RCV000383650]|Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000369274]|Mitochondrial complex IV deficiency [RCV000284953]|not provided [RCV000431453]|not specified [RCV000128018] Chr22:50523636 [GRCh38]
Chr22:50962065 [GRCh37]
Chr22:22q13.33
benign|likely benign
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
Single allele deletion Intellectual disability [RCV001293376] Chr22:42333802..51195728 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
NM_005138.3(SCO2):c.512G>A (p.Arg171Gln) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency [RCV001331366] Chr22:50523900 [GRCh38]
Chr22:50962329 [GRCh37]
Chr22:22q13.33
uncertain significance
GRCh38/hg38 22q13.33(chr22:49378128-50739836)x1 copy number loss See cases [RCV000133859] Chr22:49378128..50739836 [GRCh38]
Chr22:49774048..51178264 [GRCh37]
Chr22:48160052..49525130 [NCBI36]
Chr22:22q13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44606363-50739836)x1 copy number loss See cases [RCV000133865] Chr22:44606363..50739836 [GRCh38]
Chr22:45002243..51178264 [GRCh37]
Chr22:43380907..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.33(chr22:49315518-50739836)x1 copy number loss See cases [RCV000133707] Chr22:49315518..50739836 [GRCh38]
Chr22:49711443..51178264 [GRCh37]
Chr22:48097447..49525130 [NCBI36]
Chr22:22q13.33
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3 copy number gain See cases [RCV000134513] Chr22:40202014..50735806 [GRCh38]
Chr22:40598018..51174234 [GRCh37]
Chr22:38927964..49521100 [NCBI36]
Chr22:22q13.1-13.33
pathogenic
GRCh38/hg38 22q13.33(chr22:49504768-50780581)x1 copy number loss See cases [RCV000135691] Chr22:49504768..50780581 [GRCh38]
Chr22:49898417..51203353 [GRCh37]
Chr22:48284421..49565875 [NCBI36]
Chr22:22q13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1 copy number loss See cases [RCV000135444] Chr22:43902561..50739836 [GRCh38]
Chr22:44298441..51178264 [GRCh37]
Chr22:42629774..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46919818-50739836)x1 copy number loss See cases [RCV000135615] Chr22:46919818..50739836 [GRCh38]
Chr22:47315714..51178264 [GRCh37]
Chr22:45694378..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.33(chr22:50055303-50677724)x3 copy number gain See cases [RCV000136106] Chr22:50055303..50677724 [GRCh38]
Chr22:50493732..51116152 [GRCh37]
Chr22:48835859..49463018 [NCBI36]
Chr22:22q13.33
uncertain significance
GRCh38/hg38 22q13.31-13.33(chr22:44797239-50739836)x3 copy number gain See cases [RCV000136573] Chr22:44797239..50739836 [GRCh38]
Chr22:45193119..51178264 [GRCh37]
Chr22:43571783..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3 copy number gain See cases [RCV000136124] Chr22:43992879..50683114 [GRCh38]
Chr22:44388759..51121542 [GRCh37]
Chr22:42720092..49468408 [NCBI36]
Chr22:22q13.31-13.33
benign
GRCh38/hg38 22q13.33(chr22:50274967-50739836)x3 copy number gain See cases [RCV000136874] Chr22:50274967..50739836 [GRCh38]
Chr22:50713396..51178264 [GRCh37]
Chr22:49055523..49525130 [NCBI36]
Chr22:22q13.33
benign
GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1 copy number loss See cases [RCV000136921] Chr22:41871143..50739836 [GRCh38]
Chr22:42267147..51178264 [GRCh37]
Chr22:40597093..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48614336-50739836)x1 copy number loss See cases [RCV000136941] Chr22:48614336..50739836 [GRCh38]
Chr22:49010148..51178264 [GRCh37]
Chr22:47396711..49525130 [NCBI36]
Chr22:22q13.32-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3 copy number gain See cases [RCV000137136] Chr22:42710276..50739836 [GRCh38]
Chr22:43106282..51178264 [GRCh37]
Chr22:41436226..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44764289-50739836)x1 copy number loss See cases [RCV000136894] Chr22:44764289..50739836 [GRCh38]
Chr22:45160169..51178264 [GRCh37]
Chr22:43538833..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48500344-50780581)x1 copy number loss See cases [RCV000137377] Chr22:48500344..50780581 [GRCh38]
Chr22:48896156..51203353 [GRCh37]
Chr22:47274820..49565875 [NCBI36]
Chr22:22q13.32-13.33
pathogenic
GRCh38/hg38 22q13.33(chr22:50149563-50780522)x1 copy number loss See cases [RCV000140089] Chr22:50149563..50780522 [GRCh38]
Chr22:50587992..51218950 [GRCh37]
Chr22:48930119..49565816 [NCBI36]
Chr22:22q13.33
pathogenic
GRCh38/hg38 22q13.33(chr22:49535113-50780581)x1 copy number loss See cases [RCV000139655] Chr22:49535113..50780581 [GRCh38]
Chr22:49928762..51203353 [GRCh37]
Chr22:48314766..49565875 [NCBI36]
Chr22:22q13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1 copy number loss See cases [RCV000141415] Chr22:42837094..50735806 [GRCh38]
Chr22:43233100..51174234 [GRCh37]
Chr22:41563044..49521100 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1 copy number loss See cases [RCV000140901] Chr22:43187980..50745444 [GRCh38]
Chr22:43583986..51183872 [GRCh37]
Chr22:41913930..49530738 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46732445-50780522)x1 copy number loss See cases [RCV000140772] Chr22:46732445..50780522 [GRCh38]
Chr22:47128342..51218950 [GRCh37]
Chr22:45507006..49565816 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3 copy number gain See cases [RCV000141659] Chr22:42380961..50759410 [GRCh38]
Chr22:42776967..51197838 [GRCh37]
Chr22:41106911..49544704 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.33(chr22:50485457-50759410)x1 copy number loss See cases [RCV000142303] Chr22:50485457..50759410 [GRCh38]
Chr22:50923886..51197838 [GRCh37]
Chr22:49270752..49544704 [NCBI36]
Chr22:22q13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3 copy number gain See cases [RCV000142755] Chr22:42080077..50739836 [GRCh38]
Chr22:42476081..51178264 [GRCh37]
Chr22:40806027..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48241375-50739836)x1 copy number loss See cases [RCV000142589] Chr22:48241375..50739836 [GRCh38]
Chr22:48637187..51178264 [GRCh37]
Chr22:47015851..49525130 [NCBI36]
Chr22:22q13.32-13.33
pathogenic
GRCh38/hg38 22q13.33(chr22:49529760-50759410)x1 copy number loss See cases [RCV000143708] Chr22:49529760..50759410 [GRCh38]
Chr22:49923409..51197838 [GRCh37]
Chr22:48309413..49544704 [NCBI36]
Chr22:22q13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46361165-50759299)x1 copy number loss See cases [RCV000143487] Chr22:46361165..50759299 [GRCh38]
Chr22:46757062..51197727 [GRCh37]
Chr22:45135726..49544593 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.33(chr22:50368887-50599372)x3 copy number gain See cases [RCV000148204] Chr22:50368887..50599372 [GRCh38]
Chr22:50807316..51037801 [GRCh37]
Chr22:49154182..49384667 [NCBI36]
Chr22:22q13.33
uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:45075720-51181759) copy number loss not provided [RCV000767746] Chr22:45075720..51181759 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759) copy number loss 22q13.3 deletion syndrome [RCV000767745] Chr22:42416026..51181759 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
NM_005138.2(SCO2):c.283C>T (p.Arg95Cys) single nucleotide variant not provided [RCV000196635] Chr22:50524129 [GRCh38]
Chr22:50962558 [GRCh37]
Chr22:22q13.33
likely pathogenic
NM_152299.4(NCAPH2):c.*659C>T single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency [RCV000765657]|not provided [RCV000197726] Chr22:50524034 [GRCh38]
Chr22:50962463 [GRCh37]
Chr22:22q13.33
likely benign|uncertain significance
NM_152299.4(NCAPH2):c.*502G>A single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency [RCV001149868]|Mitochondrial complex IV deficiency [RCV001149869]|not provided [RCV000197926] Chr22:50523877 [GRCh38]
Chr22:50962306 [GRCh37]
Chr22:22q13.33
likely pathogenic|uncertain significance
NM_152299.4(NCAPH2):c.*921G>A single nucleotide variant not specified [RCV000195842] Chr22:50524296 [GRCh38]
Chr22:50962725 [GRCh37]
Chr22:22q13.33
likely pathogenic|likely benign
NM_005138.2(SCO2):c.707T>C (p.Leu236Pro) single nucleotide variant not provided [RCV000199522] Chr22:50523705 [GRCh38]
Chr22:50962134 [GRCh37]
Chr22:22q13.33
likely pathogenic
NM_152299.4(NCAPH2):c.*510G>A single nucleotide variant not specified [RCV000199661] Chr22:50523885 [GRCh38]
Chr22:50962314 [GRCh37]
Chr22:22q13.33
likely benign
NM_152299.4(NCAPH2):c.*273C>T single nucleotide variant not specified [RCV000196046] Chr22:50523648 [GRCh38]
Chr22:50962077 [GRCh37]
Chr22:22q13.33
likely benign
NM_152299.4(NCAPH2):c.*520C>T single nucleotide variant not provided [RCV000199680] Chr22:50523895 [GRCh38]
Chr22:50962324 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_152299.4(NCAPH2):c.*1020_*1021insTGAGTCACTGCTGCATGCT insertion Primary dilated cardiomyopathy [RCV000208004] Chr22:50524395..50524396 [GRCh38]
Chr22:50962824..50962825 [GRCh37]
Chr22:22q13.33
likely pathogenic
Single allele deletion Autism spectrum disorder [RCV000208741] Chr22:49033233..51193680 [GRCh37]
Chr22:22q13.32-13.33
pathogenic
Single allele deletion Autism spectrum disorder [RCV000208731] Chr22:50282986..51304566 [GRCh37]
Chr22:22q13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50922386-51205985)x1 copy number loss See cases [RCV000240423] Chr22:50922386..51205985 [GRCh37]
Chr22:22q13.33
pathogenic
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33
pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3 copy number gain See cases [RCV000240459] Chr22:40425714..51220961 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
NM_152299.4(NCAPH2):c.*299C>G single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency [RCV000285975]|Mitochondrial complex IV deficiency [RCV000336339]|not provided [RCV000870745] Chr22:50523674 [GRCh38]
Chr22:50962103 [GRCh37]
Chr22:22q13.33
likely benign|uncertain significance
NM_152299.4(NCAPH2):c.*793T>C single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency [RCV000362533]|Mitochondrial complex IV deficiency [RCV000272600] Chr22:50524168 [GRCh38]
Chr22:50962597 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_152299.4(NCAPH2):c.*875G>A single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency [RCV000378912]|Mitochondrial complex IV deficiency [RCV000279757] Chr22:50524250 [GRCh38]
Chr22:50962679 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_152299.4(NCAPH2):c.*340G>C single nucleotide variant not provided [RCV000385463] Chr22:50523715 [GRCh38]
Chr22:50962144 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_005138.3(SCO2):c.237G>A (p.Arg79=) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency [RCV001145535]|Fatal Infantile Cardioencephalomyopathy [RCV000327533]|Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV001145536]|Mitochondrial complex IV deficiency [RCV000377551]|not provided [RCV000875350]|not specified [RCV000427532] Chr22:50524175 [GRCh38]
Chr22:50962604 [GRCh37]
Chr22:22q13.33
likely benign|uncertain significance
NM_152299.4(NCAPH2):c.*761T>C single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency [RCV000307590]|Mitochondrial complex IV deficiency [RCV000275865] Chr22:50524136 [GRCh38]
Chr22:50962565 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_152299.4(NCAPH2):c.*1033G>C single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency [RCV000348680]|Mitochondrial complex IV deficiency [RCV000293784] Chr22:50524408 [GRCh38]
Chr22:50962837 [GRCh37]
Chr22:22q13.33
uncertain significance
Single allele deletion not provided [RCV000768459] Chr22:46794432..51139778 [GRCh37]
Chr22:22q13.31-13.33
likely pathogenic
NM_152299.4(NCAPH2):c.*844C>T single nucleotide variant not provided [RCV000757745] Chr22:50524219 [GRCh38]
Chr22:50962648 [GRCh37]
Chr22:22q13.33
uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:47247169-51176099)x1 copy number loss See cases [RCV000449140] Chr22:47247169..51176099 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47187586-51237463)x1 copy number loss See cases [RCV000446928] Chr22:47187586..51237463 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50941373-51066468)x3 copy number gain See cases [RCV000447418] Chr22:50941373..51066468 [GRCh37]
Chr22:22q13.33
likely benign
NM_152299.4(NCAPH2):c.*323C>T single nucleotide variant not specified [RCV000421533] Chr22:50523698 [GRCh38]
Chr22:50962127 [GRCh37]
Chr22:22q13.33
likely benign
NM_152299.4(NCAPH2):c.*299C>T single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency [RCV001147379]|Mitochondrial complex IV deficiency [RCV001147380]|not provided [RCV001513957]|not specified [RCV000422056] Chr22:50523674 [GRCh38]
Chr22:50962103 [GRCh37]
Chr22:22q13.33
benign|likely benign|uncertain significance
NM_152299.4(NCAPH2):c.*500G>C single nucleotide variant not provided [RCV000952437]|not specified [RCV000426569] Chr22:50523875 [GRCh38]
Chr22:50962304 [GRCh37]
Chr22:22q13.33
benign|likely benign
GRCh37/hg19 22q13.31-13.33(chr22:46866460-51197838)x1 copy number loss See cases [RCV000447857] Chr22:46866460..51197838 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50645586-50949482) copy number loss Abnormality of esophagus morphology [RCV000416670] Chr22:50645586..50949482 [GRCh37]
Chr22:22q13.33
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43381459-51197838)x1 copy number loss See cases [RCV000512121] Chr22:43381459..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
NM_152299.4(NCAPH2):c.*419dup duplication not provided [RCV000480578] Chr22:50523793..50523794 [GRCh38]
Chr22:50962222..50962223 [GRCh37]
Chr22:22q13.33
likely pathogenic
GRCh37/hg19 22q13.33(chr22:49628164-51197838)x1 copy number loss See cases [RCV000510342] Chr22:49628164..51197838 [GRCh37]
Chr22:22q13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46543160-51197838)x1 copy number loss See cases [RCV000510351] Chr22:46543160..51197838 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:48556939-51197838)x1 copy number loss See cases [RCV000511340] Chr22:48556939..51197838 [GRCh37]
Chr22:22q13.32-13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50716021-51157531)x3 copy number gain See cases [RCV000511797] Chr22:50716021..51157531 [GRCh37]
Chr22:22q13.33
uncertain significance
GRCh37/hg19 22q13.32-13.33(chr22:49305443-51197838)x1 copy number loss See cases [RCV000511993] Chr22:49305443..51197838 [GRCh37]
Chr22:22q13.32-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45261208-51197838)x1 copy number loss See cases [RCV000511220] Chr22:45261208..51197838 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1 copy number loss See cases [RCV000511256] Chr22:43050743..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1 copy number loss See cases [RCV000510765] Chr22:42441918..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43875989-51197838)x1 copy number loss See cases [RCV000511015] Chr22:43875989..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
NM_152299.4(NCAPH2):c.*497G>A single nucleotide variant not provided [RCV001401869]|not specified [RCV000606552] Chr22:50523872 [GRCh38]
Chr22:50962301 [GRCh37]
Chr22:22q13.33
likely benign
GRCh37/hg19 22q13.32-13.33(chr22:48533991-51178264) copy number loss 22q13.3 deletion syndrome [RCV000767671] Chr22:48533991..51178264 [GRCh37]
Chr22:22q13.32-13.33
pathogenic
NM_152299.4(NCAPH2):c.*782C>T single nucleotide variant not specified [RCV000616632] Chr22:50524157 [GRCh38]
Chr22:50962586 [GRCh37]
Chr22:22q13.33
likely benign
NM_152299.4(NCAPH2):c.*440G>T single nucleotide variant not specified [RCV000604674] Chr22:50523815 [GRCh38]
Chr22:50962244 [GRCh37]
Chr22:22q13.33
likely benign
GRCh37/hg19 22q13.33(chr22:50145416-51197838)x1 copy number loss See cases [RCV000512145] Chr22:50145416..51197838 [GRCh37]
Chr22:22q13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46780978-51183840)x1 copy number loss not provided [RCV000684522] Chr22:46780978..51183840 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46768838-51197838)x1 copy number loss not provided [RCV000684523] Chr22:46768838..51197838 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46667744-51183840)x1 copy number loss not provided [RCV000684524] Chr22:46667744..51183840 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45994305-51183840)x1 copy number loss not provided [RCV000684525] Chr22:45994305..51183840 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:44789956-51183840)x1 copy number loss not provided [RCV000684526] Chr22:44789956..51183840 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1 copy number loss not provided [RCV000684527] Chr22:43320284..51183840 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1 copy number loss not provided [RCV000684528] Chr22:43111156..51183840 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1 copy number loss not provided [RCV000684529] Chr22:42955616..51183840 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50190425-51183767)x1 copy number loss not provided [RCV000684487] Chr22:50190425..51183767 [GRCh37]
Chr22:22q13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50613566-51197838)x1 copy number loss not provided [RCV000684479] Chr22:50613566..51197838 [GRCh37]
Chr22:22q13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50134203-51183840)x1 copy number loss not provided [RCV000684488] Chr22:50134203..51183840 [GRCh37]
Chr22:22q13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42151555-51195728)x1 copy number loss not provided [RCV000741989] Chr22:42151555..51195728 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47782346-51243435)x1 copy number loss not provided [RCV000742061] Chr22:47782346..51243435 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:48125251-51211392)x1 copy number loss not provided [RCV000742062] Chr22:48125251..51211392 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:49313561-51195728)x1 copy number loss not provided [RCV000742071] Chr22:49313561..51195728 [GRCh37]
Chr22:22q13.32-13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50627704-51211392)x1 copy number loss not provided [RCV000742097] Chr22:50627704..51211392 [GRCh37]
Chr22:22q13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50921022-51054264)x3 copy number gain not provided [RCV000742112] Chr22:50921022..51054264 [GRCh37]
Chr22:22q13.33
benign
GRCh37/hg19 22q13.33(chr22:50923113-51055900)x3 copy number gain not provided [RCV000742113] Chr22:50923113..51055900 [GRCh37]
Chr22:22q13.33
benign
GRCh37/hg19 22q13.33(chr22:50942107-50988376)x3 copy number gain not provided [RCV000742115] Chr22:50942107..50988376 [GRCh37]
Chr22:22q13.33
benign
GRCh37/hg19 22q13.33(chr22:50944163-50962782)x3 copy number gain not provided [RCV000742121] Chr22:50944163..50962782 [GRCh37]
Chr22:22q13.33
benign
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:49648935-51197838)x3 copy number gain not provided [RCV001007194] Chr22:49648935..51197838 [GRCh37]
Chr22:22q13.33
pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:48454469-51144947)x3 copy number gain not provided [RCV001007507] Chr22:48454469..51144947 [GRCh37]
Chr22:22q13.32-13.33
pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:48528536-51183840)x1 copy number loss not provided [RCV001007508] Chr22:48528536..51183840 [GRCh37]
Chr22:22q13.32-13.33
pathogenic
NM_005138.3(SCO2):c.762G>A (p.Val254=) single nucleotide variant not provided [RCV000942563] Chr22:50523650 [GRCh38]
Chr22:50962079 [GRCh37]
Chr22:22q13.33
likely benign
NM_005138.3(SCO2):c.2T>C (p.Met1Thr) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency [RCV000985024] Chr22:50524410 [GRCh38]
Chr22:50962839 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic
GRCh37/hg19 22q13.33(chr22:50870751-50947129)x3 copy number gain not provided [RCV000848272] Chr22:50870751..50947129 [GRCh37]
Chr22:22q13.33
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_005138.3(SCO2):c.456A>T (p.Glu152Asp) single nucleotide variant not provided [RCV000876757] Chr22:50523956 [GRCh38]
Chr22:50962385 [GRCh37]
Chr22:22q13.33
benign
GRCh37/hg19 22q13.31-13.33(chr22:46432744-51197838)x3 copy number gain not provided [RCV000849204] Chr22:46432744..51197838 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
NM_005138.3(SCO2):c.576C>T (p.Thr192=) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency [RCV001148307]|Mitochondrial complex IV deficiency [RCV001148308]|not provided [RCV000870857] Chr22:50523836 [GRCh38]
Chr22:50962265 [GRCh37]
Chr22:22q13.33
benign|likely benign|uncertain significance
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3 copy number gain not provided [RCV001007502] Chr22:40502364..51197838 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47740201-51197838)x3 copy number gain not provided [RCV000846659] Chr22:47740201..51197838 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50893448-51060012)x3 copy number gain not provided [RCV001007195] Chr22:50893448..51060012 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_005138.3(SCO2):c.541G>A (p.Val181Ile) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency [RCV001149867]|Mitochondrial complex IV deficiency [RCV001149866] Chr22:50523871 [GRCh38]
Chr22:50962300 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_005138.3(SCO2):c.179_188dup (p.Ile63fs) duplication Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency [RCV000006037] Chr22:50524223..50524224 [GRCh38]
Chr22:50962652..50962653 [GRCh37]
Chr22:22q13.33
pathogenic
NM_005138.3(SCO2):c.244_246del (p.Lys82del) deletion not provided [RCV001576864] Chr22:50524166..50524168 [GRCh38]
Chr22:50962595..50962597 [GRCh37]
Chr22:22q13.33
likely pathogenic
NM_005138.3(SCO2):c.306C>T (p.Gly102=) single nucleotide variant not provided [RCV001552120] Chr22:50524106 [GRCh38]
Chr22:50962535 [GRCh37]
Chr22:22q13.33
likely benign
NM_005138.3(SCO2):c.723C>T (p.Tyr241=) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency [RCV001147381]|Mitochondrial complex IV deficiency [RCV001147382]|not provided [RCV000983689] Chr22:50523689 [GRCh38]
Chr22:50962118 [GRCh37]
Chr22:22q13.33
likely benign|uncertain significance
NM_152299.4(NCAPH2):c.684C>T (p.Ser228=) single nucleotide variant not provided [RCV000955607] Chr22:50518686 [GRCh38]
Chr22:50957115 [GRCh37]
Chr22:22q13.33
benign
NM_152299.4(NCAPH2):c.1253G>A (p.Arg418Gln) single nucleotide variant not provided [RCV000958299] Chr22:50522362 [GRCh38]
Chr22:50960791 [GRCh37]
Chr22:22q13.33
benign
NM_152299.4(NCAPH2):c.1365C>T (p.Ala455=) single nucleotide variant not provided [RCV000958300] Chr22:50522559 [GRCh38]
Chr22:50960988 [GRCh37]
Chr22:22q13.33
benign
NM_005138.3(SCO2):c.417C>T (p.Asp139=) single nucleotide variant not provided [RCV000890864] Chr22:50523995 [GRCh38]
Chr22:50962424 [GRCh37]
Chr22:22q13.33
likely benign
NM_005138.3(SCO2):c.406A>C (p.Ile136Leu) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency [RCV001196853] Chr22:50524006 [GRCh38]
Chr22:50962435 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_005138.3(SCO2):c.226C>T (p.Leu76=) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency [RCV001145537]|Mitochondrial complex IV deficiency [RCV001145651] Chr22:50524186 [GRCh38]
Chr22:50962615 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_005138.3(SCO2):c.173G>A (p.Arg58Gln) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency [RCV001145653]|Mitochondrial complex IV deficiency [RCV001145652] Chr22:50524239 [GRCh38]
Chr22:50962668 [GRCh37]
Chr22:22q13.33
uncertain significance
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:48223839-51197725)x1 copy number loss not provided [RCV001007506] Chr22:48223839..51197725 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254355] Chr22:47823120..50759410 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254357] Chr22:47513236..50806138 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254368] Chr22:49181210..50759297 [GRCh38]
Chr22:22q13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254359] Chr22:45708330..50737364 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254361] Chr22:48500344..50780581 [GRCh38]
Chr22:22q13.32-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254366] Chr22:45819932..50737806 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254363] Chr22:46489644..50806138 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254358] Chr22:46269281..50740560 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254360] Chr22:47705262..50739836 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254364] Chr22:43802117..50806121 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254356] Chr22:43032129..50739836 [GRCh38]
Chr22:22q13.2-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254365] Chr22:48500337..50739785 [GRCh38]
Chr22:22q13.32-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254369] Chr22:44245760..50806121 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254362] Chr22:47447433..50806138 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254367] Chr22:46467175..50759338 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254370] Chr22:44702479..50806138 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50791825-51181078)x1 copy number loss not provided [RCV001258791] Chr22:50791825..51181078 [GRCh37]
Chr22:22q13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_005138.3(SCO2):c.300C>T (p.Gly100=) single nucleotide variant not provided [RCV001310816] Chr22:50524112 [GRCh38]
Chr22:50962541 [GRCh37]
Chr22:22q13.33
likely benign
NM_005138.3(SCO2):c.412C>T (p.Pro138Ser) single nucleotide variant not provided [RCV001310815] Chr22:50524000 [GRCh38]
Chr22:50962429 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_005138.3(SCO2):c.303G>C (p.Gln101His) single nucleotide variant not provided [RCV001363284] Chr22:50524109 [GRCh38]
Chr22:50962538 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_005138.3(SCO2):c.256C>T (p.Gln86Ter) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency [RCV001336784] Chr22:50524156 [GRCh38]
Chr22:50962585 [GRCh37]
Chr22:22q13.33
pathogenic
NM_005138.3(SCO2):c.284G>A (p.Arg95His) single nucleotide variant not provided [RCV001365802] Chr22:50524128 [GRCh38]
Chr22:50962557 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_005138.3(SCO2):c.456A>G (p.Glu152=) single nucleotide variant not provided [RCV001496110] Chr22:50523956 [GRCh38]
Chr22:50962385 [GRCh37]
Chr22:22q13.33
likely benign
GRCh37/hg19 22q13.33(chr22:50099570-51187115)x1 copy number loss not provided [RCV001537924] Chr22:50099570..51187115 [GRCh37]
Chr22:22q13.33
pathogenic
NM_005138.3(SCO2):c.764G>T (p.Arg255Leu) single nucleotide variant not provided [RCV001508948] Chr22:50523648 [GRCh38]
Chr22:50962077 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_005138.3(SCO2):c.72G>A (p.Gly24=) single nucleotide variant not provided [RCV001399612] Chr22:50524340 [GRCh38]
Chr22:50962769 [GRCh37]
Chr22:22q13.33
likely benign
NC_000022.10:g.(?_50297466)_(51066227_?)del deletion ALG12-congenital disorder of glycosylation [RCV001384242] Chr22:50297466..51066227 [GRCh37]
Chr22:22q13.33
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25071 AgrOrtholog
COSMIC NCAPH2 COSMIC
Ensembl Genes ENSG00000025770 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000299821 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000379050 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000379053 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000410088 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000410480 UniProtKB/TrEMBL
  ENSP00000429025 UniProtKB/TrEMBL
  ENSP00000429060 UniProtKB/TrEMBL
  ENSP00000430944 UniProtKB/TrEMBL
Ensembl Transcript ENST00000299821 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000395698 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000395701 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000418794 UniProtKB/TrEMBL
  ENST00000420993 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000518394 UniProtKB/TrEMBL
  ENST00000522304 UniProtKB/TrEMBL
  ENST00000523045 UniProtKB/TrEMBL
GTEx ENSG00000025770 GTEx
HGNC ID HGNC:25071 ENTREZGENE
Human Proteome Map NCAPH2 Human Proteome Map
InterPro CNDH2_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  H2_M UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  H2_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ncaph2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:29781 UniProtKB/Swiss-Prot
NCBI Gene 29781 ENTREZGENE
OMIM 611230 OMIM
PANTHER PTHR14324 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CNDH2_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CNDH2_M UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CNDH2_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162397314 PharmGKB
UniProt A0A0A6YYG7_HUMAN UniProtKB/TrEMBL
  CNDH2_HUMAN UniProtKB/Swiss-Prot
  E5RJL4_HUMAN UniProtKB/TrEMBL
  E5RJN3_HUMAN UniProtKB/TrEMBL
  F8WAR3_HUMAN UniProtKB/TrEMBL
  H0YC55_HUMAN UniProtKB/TrEMBL
  Q6IBW4 ENTREZGENE
UniProt Secondary B7WPH1 UniProtKB/Swiss-Prot
  O43788 UniProtKB/Swiss-Prot
  Q13391 UniProtKB/Swiss-Prot
  Q96C14 UniProtKB/Swiss-Prot
  Q96GJ0 UniProtKB/Swiss-Prot
  Q9BQ71 UniProtKB/Swiss-Prot
  Q9BUT3 UniProtKB/Swiss-Prot
  Q9BVD1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 NCAPH2  non-SMC condensin II complex subunit H2    non-SMC condensin II complex, subunit H2  Symbol and/or name change 5135510 APPROVED