CASP10 (caspase 10) - Rat Genome Database
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Gene: CASP10 (caspase 10) Homo sapiens
Analyze
Symbol: CASP10
Name: caspase 10
RGD ID: 1347736
HGNC Page HGNC
Description: Exhibits cysteine-type endopeptidase activity involved in apoptotic signaling pathway; death effector domain binding activity; and ubiquitin protein ligase binding activity. Involved in positive regulation of I-kappaB kinase/NF-kappaB signaling. Localizes to CD95 death-inducing signaling complex and ripoptosome. Implicated in autoimmune lymphoproliferative syndrome type 2A and non-Hodgkin lymphoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ALPS2; apoptotic protease MCH-4; CASP-10; caspase 10 apoptosis-related cysteine peptidase; caspase 10, apoptosis-related cysteine peptidase; caspase 10, apoptosis-related cysteine protease; caspase-10; FADD-like ICE2; FAS-associated death domain protein interleukin-1B-converting enzyme 2; FLICE-2; FLICE2; ICE-like apoptotic protease 4; interleukin-1B-converting enzyme 2; MCH4
RGD Orthologs
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 Ensembl2201,182,881 - 201,229,406 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl2201,182,898 - 201,229,406 (+)EnsemblGRCh38hg38GRCh38
GRCh382201,182,885 - 201,229,406 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372202,047,864 - 202,094,129 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362201,755,866 - 201,802,355 (+)NCBINCBI36hg18NCBI36
Build 342201,873,360 - 201,910,373NCBI
Celera2195,802,231 - 195,848,720 (+)NCBI
Cytogenetic Map2q33.1NCBI
HuRef2193,898,993 - 193,945,498 (+)NCBIHuRef
CHM1_12202,053,583 - 202,100,108 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Human Phenotype
Abnormal proportion of CD8-positive T cells  (IAGP)
Abnormal serum interleukin level  (IAGP)
Abnormal vitamin B12 level  (IAGP)
Antineutrophil antibody positivity  (IAGP)
Antinuclear antibody positivity  (IAGP)
Antiphospholipid antibody positivity  (IAGP)
Arthritis  (IAGP)
Autoimmune hemolytic anemia  (IAGP)
Autoimmune thrombocytopenia  (IAGP)
Autosomal dominant inheritance  (IAGP)
B-cell lymphoma  (IAGP)
Basal cell carcinoma  (IAGP)
Bone marrow hypercellularity  (IAGP)
Bone marrow hypocellularity  (IAGP)
Bruising susceptibility  (IAGP)
Burkitt lymphoma  (IAGP)
Chronic noninfectious lymphadenopathy  (IAGP)
Colitis  (IAGP)
Coombs-positive hemolytic anemia  (IAGP)
Decreased circulating IgG level  (IAGP)
Decreased circulating total IgM  (IAGP)
Decreased lymphocyte apoptosis  (IAGP)
Decreased proportion of CD4-positive helper T cells  (IAGP)
Decreased specific anti-polysaccharide antibody level  (IAGP)
Elevated erythrocyte sedimentation rate  (IAGP)
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells  (IAGP)
Eosinophilia  (IAGP)
Fibroadenoma of the breast  (IAGP)
Follicular hyperplasia  (IAGP)
Gastritis  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Glomerulonephritis  (IAGP)
Headache  (IAGP)
Hepatitis  (IAGP)
Hepatocellular carcinoma  (IAGP)
Hepatomegaly  (IAGP)
Hodgkin lymphoma  (IAGP)
Hydrops fetalis  (IAGP)
Hypersplenism  (IAGP)
Increased B cell count  (IAGP)
Increased circulating IgA level  (IAGP)
Increased circulating IgE level  (IAGP)
Increased circulating IgG level  (IAGP)
Increased circulating IgM level  (IAGP)
Increased proportion of HLA DR+ T cells  (IAGP)
Iron deficiency anemia  (IAGP)
Juvenile onset  (IAGP)
Lymphadenopathy  (IAGP)
Malar rash  (IAGP)
Neoplasm of the tongue  (IAGP)
Nephritis  (IAGP)
Nephrotic syndrome  (IAGP)
Neutropenia in presence of anti-neutropil antibodies  (IAGP)
Panniculitis  (IAGP)
Petechiae  (IAGP)
Platelet antibody positive  (IAGP)
Premature ovarian insufficiency  (IAGP)
Pulmonary fibrosis  (IAGP)
Pulmonary infiltrates  (IAGP)
Recurrent aphthous stomatitis  (IAGP)
Reduced delayed hypersensitivity  (IAGP)
Renal insufficiency  (IAGP)
Reticulocytosis  (IAGP)
Rheumatoid factor positive  (IAGP)
Seizure  (IAGP)
Smooth muscle antibody positivity  (IAGP)
Splenomegaly  (IAGP)
Systemic lupus erythematosus  (IAGP)
T-cell lymphoma  (IAGP)
Thrombocytopenia  (IAGP)
Thyroid adenoma  (IAGP)
Thyroid carcinoma  (IAGP)
Thyroiditis  (IAGP)
Urticaria  (IAGP)
Uveitis  (IAGP)
Vasculitis  (IAGP)
References

Additional References at PubMed
PMID:170210   PMID:1171445   PMID:3031469   PMID:8125298   PMID:8521391   PMID:8755496   PMID:8962078   PMID:9045686   PMID:9153302   PMID:9208847   PMID:9228018   PMID:9289491  
PMID:9325248   PMID:9337844   PMID:9792675   PMID:10187817   PMID:10412980   PMID:10432301   PMID:10716992   PMID:10734073   PMID:11002417   PMID:11048727   PMID:11098060   PMID:11161814  
PMID:11395500   PMID:11583996   PMID:11717445   PMID:11832478   PMID:11973654   PMID:12010812   PMID:12037669   PMID:12198154   PMID:12388546   PMID:12477932   PMID:12527898   PMID:12884866  
PMID:12887920   PMID:14687710   PMID:14688482   PMID:14759258   PMID:14761933   PMID:15069192   PMID:15280356   PMID:15452117   PMID:15500642   PMID:15659383   PMID:15735701   PMID:15767684  
PMID:15772077   PMID:16186808   PMID:16251207   PMID:16344560   PMID:16446975   PMID:16767158   PMID:16920334   PMID:17071630   PMID:17085968   PMID:17159907   PMID:17450141   PMID:17479112  
PMID:17534194   PMID:17567985   PMID:17623017   PMID:17822854   PMID:17999750   PMID:18381704   PMID:18563783   PMID:18676680   PMID:18716417   PMID:18823309   PMID:19074885   PMID:19141860  
PMID:19166881   PMID:19170196   PMID:19219602   PMID:19269008   PMID:19380486   PMID:19414860   PMID:19423537   PMID:19550122   PMID:19557502   PMID:19604093   PMID:19625176   PMID:19641626  
PMID:19692168   PMID:19773279   PMID:19784808   PMID:19826114   PMID:19861680   PMID:19900088   PMID:19902255   PMID:20025484   PMID:20301287   PMID:20402676   PMID:20453000   PMID:20644561  
PMID:20661084   PMID:20800603   PMID:20802294   PMID:20829884   PMID:20855536   PMID:20959405   PMID:20978178   PMID:21048031   PMID:21368896   PMID:21382177   PMID:21454616   PMID:21559821  
PMID:21737330   PMID:21873635   PMID:21911414   PMID:21980415   PMID:21988832   PMID:22683265   PMID:22782902   PMID:22843554   PMID:22864571   PMID:23212337   PMID:23303631   PMID:23541952  
PMID:23770605   PMID:23921907   PMID:25241761   PMID:25330190   PMID:25370148   PMID:25403406   PMID:25416956   PMID:25910212   PMID:26164758   PMID:26323380   PMID:26871637   PMID:27799292  
PMID:28445729   PMID:28643196   PMID:29182622   PMID:29322788   PMID:30745168   PMID:31534141  


Genomics

Comparative Map Data
CASP10
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2201,182,881 - 201,229,406 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl2201,182,898 - 201,229,406 (+)EnsemblGRCh38hg38GRCh38
GRCh382201,182,885 - 201,229,406 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372202,047,864 - 202,094,129 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362201,755,866 - 201,802,355 (+)NCBINCBI36hg18NCBI36
Build 342201,873,360 - 201,910,373NCBI
Celera2195,802,231 - 195,848,720 (+)NCBI
Cytogenetic Map2q33.1NCBI
HuRef2193,898,993 - 193,945,498 (+)NCBIHuRef
CHM1_12202,053,583 - 202,100,108 (+)NCBICHM1_1
CASP10
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12B206,595,776 - 206,641,775 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B206,595,776 - 206,641,775 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02B88,440,199 - 88,479,277 (+)NCBIMhudiblu_PPA_v0panPan3
CASP10
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13710,315,867 - 10,350,585 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Casp10
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_004936726460,556 - 489,550 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CASP10
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15104,858,100 - 104,894,933 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115104,858,082 - 104,895,941 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215116,127,433 - 116,215,682 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CASP10
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11086,830,101 - 86,884,729 (+)NCBI
ChlSab1.1 Ensembl1086,830,589 - 86,871,200 (+)Ensembl
Casp10
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462488931,132 - 63,774 (-)NCBI

Position Markers
D2S188E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372202,065,501 - 202,065,616UniSTSGRCh37
Build 362201,773,746 - 201,773,861RGDNCBI36
Celera2195,820,111 - 195,820,226RGD
Cytogenetic Map2q33-q34UniSTS
HuRef2193,916,869 - 193,916,984UniSTS
PMC230316P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372202,073,880 - 202,074,250UniSTSGRCh37
Build 362201,782,125 - 201,782,495RGDNCBI36
Celera2195,828,491 - 195,828,861RGD
Cytogenetic Map2q33-q34UniSTS
HuRef2193,925,249 - 193,925,619UniSTS
CASP10_482  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372202,084,137 - 202,084,987UniSTSGRCh37
Build 362201,792,382 - 201,793,232RGDNCBI36
Celera2195,838,747 - 195,839,597RGD
HuRef2193,935,505 - 193,936,355UniSTS
RH70685  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372202,083,448 - 202,083,658UniSTSGRCh37
Build 362201,791,693 - 201,791,903RGDNCBI36
Celera2195,838,058 - 195,838,268RGD
Cytogenetic Map2q33-q34UniSTS
HuRef2193,934,816 - 193,935,026UniSTS
GeneMap99-GB4 RH Map2626.7UniSTS
RH68751  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372202,084,612 - 202,084,742UniSTSGRCh37
Build 362201,792,857 - 201,792,987RGDNCBI36
Celera2195,839,222 - 195,839,352RGD
Cytogenetic Map2q33-q34UniSTS
HuRef2193,935,980 - 193,936,110UniSTS
GeneMap99-GB4 RH Map2626.7UniSTS
RH77986  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372202,084,526 - 202,084,649UniSTSGRCh37
Build 362201,792,771 - 201,792,894RGDNCBI36
Celera2195,839,136 - 195,839,259RGD
Cytogenetic Map2q33-q34UniSTS
HuRef2193,935,894 - 193,936,017UniSTS
NCBI RH Map21528.4UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR186hsa-miR-186-3pOncomiRDBexternal_infoNANA20878113

Predicted Target Of
Summary Value
Count of predictions:6829
Count of miRNA genes:1300
Interacting mature miRNAs:1656
Transcripts:ENST00000272879, ENST00000286186, ENST00000313728, ENST00000346817, ENST00000360132, ENST00000374650, ENST00000438843, ENST00000448480, ENST00000460140, ENST00000471191, ENST00000484926, ENST00000485408, ENST00000492363
Prediction methods:Microtar, Miranda, Rnahybrid
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 467 457 192 31 1147 26 524 26 49 80 175 795 10 623 89 1
Low 1965 2524 1529 592 777 437 3798 2142 3552 334 1264 747 162 1 581 2682 5 2
Below cutoff 7 10 5 1 26 2 35 29 128 5 17 67 3 17

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001206524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001206542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001306083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005246907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_923043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_923044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB038979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF111344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF111345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI696103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ487678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ487679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW190618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY690601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP871945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX089180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA456072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF050529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U60519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U86214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000272879   ⟹   ENSP00000272879
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,183,132 - 201,229,406 (+)Ensembl
RefSeq Acc Id: ENST00000286186   ⟹   ENSP00000286186
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,183,141 - 201,221,665 (+)Ensembl
RefSeq Acc Id: ENST00000313728   ⟹   ENSP00000314599
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,183,192 - 201,217,770 (+)Ensembl
RefSeq Acc Id: ENST00000346817   ⟹   ENSP00000237865
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,183,169 - 201,220,080 (+)Ensembl
RefSeq Acc Id: ENST00000360132   ⟹   ENSP00000353250
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,182,898 - 201,221,660 (+)Ensembl
RefSeq Acc Id: ENST00000374650   ⟹   ENSP00000363781
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,183,160 - 201,200,728 (+)Ensembl
RefSeq Acc Id: ENST00000438843   ⟹   ENSP00000401914
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,183,141 - 201,208,160 (+)Ensembl
RefSeq Acc Id: ENST00000448480   ⟹   ENSP00000396835
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,183,195 - 201,229,128 (+)Ensembl
RefSeq Acc Id: ENST00000460140
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,183,112 - 201,206,250 (+)Ensembl
RefSeq Acc Id: ENST00000471191
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,187,680 - 201,196,015 (+)Ensembl
RefSeq Acc Id: ENST00000484926
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,183,216 - 201,186,380 (+)Ensembl
RefSeq Acc Id: ENST00000485408
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,187,746 - 201,193,403 (+)Ensembl
RefSeq Acc Id: ENST00000492363
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,185,778 - 201,217,741 (+)Ensembl
RefSeq Acc Id: NM_001206524   ⟹   NP_001193453
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,183,141 - 201,221,665 (+)NCBI
GRCh372202,047,621 - 202,094,129 (+)ENTREZGENE
HuRef2193,898,993 - 193,945,498 (+)ENTREZGENE
CHM1_12202,053,600 - 202,092,362 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001206542   ⟹   NP_001193471
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,183,141 - 201,229,406 (+)NCBI
GRCh372202,047,621 - 202,094,129 (+)ENTREZGENE
HuRef2193,898,993 - 193,945,498 (+)ENTREZGENE
CHM1_12202,053,600 - 202,100,108 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001230   ⟹   NP_001221
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,183,141 - 201,221,665 (+)NCBI
GRCh372202,047,621 - 202,094,129 (+)ENTREZGENE
Build 362201,755,866 - 201,794,628 (+)NCBI Archive
HuRef2193,898,993 - 193,945,498 (+)ENTREZGENE
CHM1_12202,053,600 - 202,092,362 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001306083   ⟹   NP_001293012
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,183,141 - 201,200,729 (+)NCBI
CHM1_12202,053,583 - 202,071,430 (+)NCBI
Sequence:
RefSeq Acc Id: NM_032974   ⟹   NP_116756
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,183,141 - 201,229,406 (+)NCBI
GRCh372202,047,621 - 202,094,129 (+)ENTREZGENE
Build 362201,755,866 - 201,802,355 (+)NCBI Archive
HuRef2193,898,993 - 193,945,498 (+)ENTREZGENE
CHM1_12202,053,600 - 202,100,108 (+)NCBI
Sequence:
RefSeq Acc Id: NM_032976   ⟹   NP_116758
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,183,141 - 201,221,665 (+)NCBI
GRCh372202,047,621 - 202,094,129 (+)ENTREZGENE
HuRef2193,898,993 - 193,945,498 (+)ENTREZGENE
CHM1_12202,053,600 - 202,092,362 (+)NCBI
Sequence:
RefSeq Acc Id: NM_032977   ⟹   NP_116759
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,183,141 - 201,221,665 (+)NCBI
GRCh372202,047,621 - 202,094,129 (+)ENTREZGENE
Build 362201,755,866 - 201,794,628 (+)NCBI Archive
HuRef2193,898,993 - 193,945,498 (+)ENTREZGENE
CHM1_12202,053,600 - 202,092,362 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005246907   ⟹   XP_005246964
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,183,112 - 201,220,710 (+)NCBI
GRCh372202,047,621 - 202,094,129 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006712796   ⟹   XP_006712859
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,182,885 - 201,220,710 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011511990   ⟹   XP_011510292
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,183,112 - 201,209,158 (+)NCBI
Sequence:
RefSeq Acc Id: XR_923043
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,183,112 - 201,209,152 (+)NCBI
Sequence:
RefSeq Acc Id: XR_923044
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,183,112 - 201,209,152 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001193453 (Get FASTA)   NCBI Sequence Viewer  
  NP_001193471 (Get FASTA)   NCBI Sequence Viewer  
  NP_001221 (Get FASTA)   NCBI Sequence Viewer  
  NP_001293012 (Get FASTA)   NCBI Sequence Viewer  
  NP_116756 (Get FASTA)   NCBI Sequence Viewer  
  NP_116758 (Get FASTA)   NCBI Sequence Viewer  
  NP_116759 (Get FASTA)   NCBI Sequence Viewer  
  XP_005246964 (Get FASTA)   NCBI Sequence Viewer  
  XP_006712859 (Get FASTA)   NCBI Sequence Viewer  
  XP_011510292 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB46730 (Get FASTA)   NCBI Sequence Viewer  
  AAC50644 (Get FASTA)   NCBI Sequence Viewer  
  AAD28402 (Get FASTA)   NCBI Sequence Viewer  
  AAD28403 (Get FASTA)   NCBI Sequence Viewer  
  AAH42844 (Get FASTA)   NCBI Sequence Viewer  
  AAU00989 (Get FASTA)   NCBI Sequence Viewer  
  AAY24291 (Get FASTA)   NCBI Sequence Viewer  
  ABJ53426 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33417 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33418 (Get FASTA)   NCBI Sequence Viewer  
  BAB32553 (Get FASTA)   NCBI Sequence Viewer  
  BAB32554 (Get FASTA)   NCBI Sequence Viewer  
  BAG65597 (Get FASTA)   NCBI Sequence Viewer  
  CAD32371 (Get FASTA)   NCBI Sequence Viewer  
  CAD32372 (Get FASTA)   NCBI Sequence Viewer  
  EAW70247 (Get FASTA)   NCBI Sequence Viewer  
  EAW70248 (Get FASTA)   NCBI Sequence Viewer  
  EAW70249 (Get FASTA)   NCBI Sequence Viewer  
  EAW70250 (Get FASTA)   NCBI Sequence Viewer  
  EAW70251 (Get FASTA)   NCBI Sequence Viewer  
  Q92851 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_116756   ⟸   NM_032974
- Peptide Label: isoform 2 preproprotein
- UniProtKB: Q92851 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001193471   ⟸   NM_001206542
- Peptide Label: isoform 5 preproprotein
- UniProtKB: Q92851 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_116759   ⟸   NM_032977
- Peptide Label: isoform 1 preproprotein
- UniProtKB: Q92851 (UniProtKB/Swiss-Prot),   A0A0S2Z3Z5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_116758   ⟸   NM_032976
- Peptide Label: isoform 4
- UniProtKB: Q92851 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001193453   ⟸   NM_001206524
- Peptide Label: isoform 6 preproprotein
- UniProtKB: Q92851 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001221   ⟸   NM_001230
- Peptide Label: isoform 3 preproprotein
- UniProtKB: Q92851 (UniProtKB/Swiss-Prot),   A0A0S2Z3G5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005246964   ⟸   XM_005246907
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_006712859   ⟸   XM_006712796
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011510292   ⟸   XM_011511990
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: NP_001293012   ⟸   NM_001306083
- Peptide Label: isoform 7
- UniProtKB: Q92851 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000401914   ⟸   ENST00000438843
RefSeq Acc Id: ENSP00000237865   ⟸   ENST00000346817
RefSeq Acc Id: ENSP00000363781   ⟸   ENST00000374650
RefSeq Acc Id: ENSP00000353250   ⟸   ENST00000360132
RefSeq Acc Id: ENSP00000286186   ⟸   ENST00000286186
RefSeq Acc Id: ENSP00000272879   ⟸   ENST00000272879
RefSeq Acc Id: ENSP00000314599   ⟸   ENST00000313728
RefSeq Acc Id: ENSP00000396835   ⟸   ENST00000448480
Protein Domains
CASPASE_P10   CASPASE_P20   DED

Promoters
RGD ID:6862522
Promoter ID:EPDNEW_H4426
Type:initiation region
Name:CASP10_2
Description:caspase 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4427  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,182,895 - 201,182,955EPDNEW
RGD ID:6862524
Promoter ID:EPDNEW_H4427
Type:initiation region
Name:CASP10_1
Description:caspase 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4426  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,183,141 - 201,183,201EPDNEW
RGD ID:6797149
Promoter ID:HG_KWN:36679
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000313728,   ENST00000360132,   OTTHUMT00000256272,   OTTHUMT00000256273,   OTTHUMT00000256274,   OTTHUMT00000336844,   OTTHUMT00000336845,   OTTHUMT00000336850,   UC002UXI.1,   UC002UXM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362201,755,854 - 201,756,354 (+)MPROMDB
RGD ID:6796939
Promoter ID:HG_KWN:36680
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:UC010FTB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362201,758,651 - 201,759,151 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_032976.3(CASP10):c.*13_*14del deletion not provided [RCV000723077] Chr2:201209074..201209075 [GRCh38]
Chr2:202073797..202073798 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.853C>T (p.Leu285Phe) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000008205]|Autoimmune lymphoproliferative syndrome, type 2A [RCV001216523] Chr2:201208114 [GRCh38]
Chr2:202072837 [GRCh37]
Chr2:2q33.1
pathogenic|uncertain significance
NM_032976.3(CASP10):c.*327C>T single nucleotide variant Non-Hodgkin lymphoma [RCV000008206] Chr2:201209388 [GRCh38]
Chr2:202074111 [GRCh37]
Chr2:2q33.1
pathogenic|other
NM_001230.5(CASP10):c.685-2146C>T single nucleotide variant Neoplasm of stomach [RCV000008208]|Non-Hodgkin lymphoma [RCV000008207] Chr2:201205929 [GRCh38]
Chr2:202070652 [GRCh37]
Chr2:2q33.1
pathogenic|other
NM_032976.3(CASP10):c.*128_*129insA insertion Non-Hodgkin lymphoma [RCV000008209] Chr2:201209189..201209190 [GRCh38]
Chr2:202073912..202073913 [GRCh37]
Chr2:2q33.1
pathogenic|other
NM_001230.5(CASP10):c.440T>C (p.Met147Thr) single nucleotide variant Autoimmune lymphoproliferative syndrome [RCV000986973]|Neoplasm of stomach [RCV000008210] Chr2:201187798 [GRCh38]
Chr2:202052521 [GRCh37]
Chr2:2q33.1
pathogenic|uncertain significance|other
NM_032977.3(CASP10):c.1216A>C (p.Ile406Leu) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000008211] Chr2:201209363 [GRCh38]
Chr2:202074086 [GRCh37]
Chr2:2q33.1
pathogenic|conflicting interpretations of pathogenicity
NM_032977.3(CASP10):c.1228G>A (p.Val410Ile) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000279231]|Autoimmune lymphoproliferative syndrome, type 2A [RCV000528105] Chr2:201209375 [GRCh38]
Chr2:202074098 [GRCh37]
Chr2:2q33.1
pathogenic|benign|likely benign
NM_032977.3(CASP10):c.1337A>G (p.Tyr446Cys) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000020931]|Autoimmune lymphoproliferative syndrome, type 2A [RCV000549360] Chr2:201209484 [GRCh38]
Chr2:202074207 [GRCh37]
Chr2:2q33.1
benign
GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1 copy number loss See cases [RCV000050980] Chr2:174898848..203941548 [GRCh38]
Chr2:175763576..204806271 [GRCh37]
Chr2:175471822..204514516 [NCBI36]
Chr2:2q31.1-33.2
pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
GRCh38/hg38 2q33.1-34(chr2:198095810-211803453)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|See cases [RCV000052603] Chr2:198095810..211803453 [GRCh38]
Chr2:198960534..212668178 [GRCh37]
Chr2:198668779..212376423 [NCBI36]
Chr2:2q33.1-34
pathogenic
GRCh38/hg38 2q33.1-33.2(chr2:200520961-203566211)x1 copy number loss See cases [RCV000052605] Chr2:200520961..203566211 [GRCh38]
Chr2:201385684..204430934 [GRCh37]
Chr2:201093929..204139179 [NCBI36]
Chr2:2q33.1-33.2
pathogenic
GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1 copy number loss See cases [RCV000052558] Chr2:176304445..202039790 [GRCh38]
Chr2:177169173..202904513 [GRCh37]
Chr2:176877419..202612758 [NCBI36]
Chr2:2q31.1-33.1
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
NM_032977.3(CASP10):c.717T>C (p.Ser239=) single nucleotide variant Malignant melanoma [RCV000065357] Chr2:201203762 [GRCh38]
Chr2:202068485 [GRCh37]
Chr2:201776730 [NCBI36]
Chr2:2q33.1
not provided
NM_032977.3(CASP10):c.1344C>T (p.Ser448=) single nucleotide variant Malignant melanoma [RCV000065358] Chr2:201209491 [GRCh38]
Chr2:202074214 [GRCh37]
Chr2:201782459 [NCBI36]
Chr2:2q33.1
not provided
NM_032977.3(CASP10):c.666A>G (p.Thr222=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000362617] Chr2:201195930 [GRCh38]
Chr2:202060653 [GRCh37]
Chr2:2q33.1
benign|likely benign
GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1 copy number loss See cases [RCV000135341] Chr2:195660594..203969488 [GRCh38]
Chr2:196525318..204834211 [GRCh37]
Chr2:196233563..204542456 [NCBI36]
Chr2:2q32.3-33.2
pathogenic
GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1 copy number loss See cases [RCV000135665] Chr2:197400023..202089348 [GRCh38]
Chr2:198264747..202954071 [GRCh37]
Chr2:197972992..202662316 [NCBI36]
Chr2:2q33.1
likely pathogenic
GRCh38/hg38 2q33.1(chr2:198767347-202353840)x1 copy number loss See cases [RCV000136596] Chr2:198767347..202353840 [GRCh38]
Chr2:199632071..203218563 [GRCh37]
Chr2:199340316..202926808 [NCBI36]
Chr2:2q33.1
pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2
pathogenic
GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1 copy number loss See cases [RCV000141254] Chr2:192938826..215705052 [GRCh38]
Chr2:193803552..216569775 [GRCh37]
Chr2:193511797..216278020 [NCBI36]
Chr2:2q32.3-35
pathogenic
GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1 copy number loss See cases [RCV000141076] Chr2:199946494..209985195 [GRCh38]
Chr2:200811217..210849919 [GRCh37]
Chr2:200519462..210558164 [NCBI36]
Chr2:2q33.1-34
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1 copy number loss See cases [RCV000143301] Chr2:199937273..210031924 [GRCh38]
Chr2:200801996..210896648 [GRCh37]
Chr2:200510241..210604893 [NCBI36]
Chr2:2q33.1-34
pathogenic
NM_032977.3(CASP10):c.*665G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000260357] Chr2:201218406 [GRCh38]
Chr2:202083129 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_032977.3(CASP10):c.923-12G>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000264387] Chr2:201209058 [GRCh38]
Chr2:202073781 [GRCh37]
Chr2:2q33.1
benign
NM_032977.3(CASP10):c.1415+8C>G single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000393101]|Autoimmune lymphoproliferative syndrome, type 2A [RCV000643938] Chr2:201209570 [GRCh38]
Chr2:202074293 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_032977.3(CASP10):c.49A>G (p.Lys17Glu) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000288669] Chr2:201185826 [GRCh38]
Chr2:202050549 [GRCh37]
Chr2:2q33.1
benign|uncertain significance
NM_001230.5(CASP10):c.794-12del deletion Autoimmune lymphoproliferative syndrome [RCV000377588] Chr2:201209058 [GRCh38]
Chr2:202073781 [GRCh37]
Chr2:2q33.1
likely benign
NM_032977.4(CASP10):c.177A>G (p.Ser59=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000384413]|not specified [RCV000454697] Chr2:201185954 [GRCh38]
Chr2:202050677 [GRCh37]
Chr2:2q33.1
benign
NM_032977.3(CASP10):c.1316G>T (p.Gly439Val) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000334321] Chr2:201209463 [GRCh38]
Chr2:202074186 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.534A>G (p.Val178=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000338431] Chr2:201193076 [GRCh38]
Chr2:202057799 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.347+9G>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000340305]|Autoimmune lymphoproliferative syndrome, type 2A [RCV000542624] Chr2:201186133 [GRCh38]
Chr2:202050856 [GRCh37]
Chr2:2q33.1
benign
NM_032977.3(CASP10):c.-285C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000273476] Chr2:201183031 [GRCh38]
Chr2:202047754 [GRCh37]
Chr2:2q33.1
likely benign
NM_032977.3(CASP10):c.*2689A>G single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000286345] Chr2:201220430 [GRCh38]
Chr2:202085153 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_032977.3(CASP10):c.1347T>C (p.Phe449=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000280543]|Autoimmune lymphoproliferative syndrome, type 2A [RCV000643932] Chr2:201209494 [GRCh38]
Chr2:202074217 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_032977.3(CASP10):c.*2590G>C single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000283251] Chr2:201220331 [GRCh38]
Chr2:202085054 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_032977.3(CASP10):c.*3019C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000269504] Chr2:201220760 [GRCh38]
Chr2:202085483 [GRCh37]
Chr2:2q33.1
benign|likely benign
GRCh37/hg19 2q33.1(chr2:200776457-203070949)x3 copy number gain See cases [RCV000240410] Chr2:200776457..203070949 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.*230G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000271703] Chr2:201217971 [GRCh38]
Chr2:202082694 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_032977.3(CASP10):c.729A>G (p.Arg243=) single nucleotide variant Autoimmune lymphoproliferative syndrome [RCV000272486] Chr2:201205889 [GRCh38]
Chr2:202070612 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.*1688A>G single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000298789] Chr2:201219429 [GRCh38]
Chr2:202084152 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_032977.3(CASP10):c.-206C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000333208] Chr2:201183110 [GRCh38]
Chr2:202047833 [GRCh37]
Chr2:2q33.1
benign
NM_032977.3(CASP10):c.1466G>A (p.Arg489Gln) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000315298]|Autoimmune lymphoproliferative syndrome, type 2A [RCV000804097] Chr2:201217638 [GRCh38]
Chr2:202082361 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_032977.3(CASP10):c.*2757A>G single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000334386] Chr2:201220498 [GRCh38]
Chr2:202085221 [GRCh37]
Chr2:2q33.1
benign
NM_032977.3(CASP10):c.361G>A (p.Glu121Lys) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000376398] Chr2:201187719 [GRCh38]
Chr2:202052442 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_032977.3(CASP10):c.*1793C>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000355904] Chr2:201219534 [GRCh38]
Chr2:202084257 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_032977.3(CASP10):c.1216A>T (p.Ile406Leu) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000378446]|Autoimmune lymphoproliferative syndrome, type 2A [RCV001080451]|Hypomyelination and Congenital Cataract [RCV001258256]|not provided [RCV000440171] Chr2:201209363 [GRCh38]
Chr2:202074086 [GRCh37]
Chr2:2q33.1
benign|likely benign|uncertain significance
NM_032977.3(CASP10):c.*2618G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000402017] Chr2:201220359 [GRCh38]
Chr2:202085082 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_032977.3(CASP10):c.*277G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000303312] Chr2:201218018 [GRCh38]
Chr2:202082741 [GRCh37]
Chr2:2q33.1
benign
NM_032977.3(CASP10):c.*285G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000358138] Chr2:201218026 [GRCh38]
Chr2:202082749 [GRCh37]
Chr2:2q33.1
benign
NM_032977.3(CASP10):c.*1593T>C single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000402504] Chr2:201219334 [GRCh38]
Chr2:202084057 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_032977.3(CASP10):c.*2289A>C single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000381147] Chr2:201220030 [GRCh38]
Chr2:202084753 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_032977.3(CASP10):c.347+8C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000290057]|Autoimmune lymphoproliferative syndrome, type 2A [RCV000643936] Chr2:201186132 [GRCh38]
Chr2:202050855 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_032977.3(CASP10):c.*3420C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000320936] Chr2:201221161 [GRCh38]
Chr2:202085884 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_032977.3(CASP10):c.*1520C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000305355] Chr2:201219261 [GRCh38]
Chr2:202083984 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_032977.3(CASP10):c.*77T>G single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000306984] Chr2:201217818 [GRCh38]
Chr2:202082541 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_032977.3(CASP10):c.*480A>G single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000323587] Chr2:201218221 [GRCh38]
Chr2:202082944 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_032977.3(CASP10):c.923-3C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000323898]|Autoimmune lymphoproliferative syndrome, type 2A [RCV000555967] Chr2:201209067 [GRCh38]
Chr2:202073790 [GRCh37]
Chr2:2q33.1
benign
NM_032977.3(CASP10):c.*3513A>G single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000324451] Chr2:201221254 [GRCh38]
Chr2:202085977 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_032977.3(CASP10):c.*1043C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000343586] Chr2:201218784 [GRCh38]
Chr2:202083507 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_032977.3(CASP10):c.20A>G (p.His7Arg) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000387671]|Autoimmune lymphoproliferative syndrome, type 2A [RCV001059444] Chr2:201185797 [GRCh38]
Chr2:202050520 [GRCh37]
Chr2:2q33.1
benign|likely benign|uncertain significance
NM_032977.3(CASP10):c.174C>T (p.Ala58=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000325112]|Autoimmune lymphoproliferative syndrome, type 2A [RCV000643935]|not provided [RCV001171820] Chr2:201185951 [GRCh38]
Chr2:202050674 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_032977.3(CASP10):c.*3137G>C single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000365156] Chr2:201220878 [GRCh38]
Chr2:202085601 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_032977.3(CASP10):c.*136A>G single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000366299] Chr2:201217877 [GRCh38]
Chr2:202082600 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.*739T>C single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000294372] Chr2:201218480 [GRCh38]
Chr2:202083203 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_032977.3(CASP10):c.*3071G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000326859] Chr2:201220812 [GRCh38]
Chr2:202085535 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_032977.3(CASP10):c.879C>A (p.Ser293Arg) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000327608] Chr2:201208140 [GRCh38]
Chr2:202072863 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_032977.3(CASP10):c.*1955G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000368530] Chr2:201219696 [GRCh38]
Chr2:202084419 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_032977.3(CASP10):c.-360T>C single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000368930] Chr2:201182956 [GRCh38]
Chr2:202047679 [GRCh37]
Chr2:2q33.1
benign
NM_032977.3(CASP10):c.*1471G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000390856] Chr2:201219212 [GRCh38]
Chr2:202083935 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_032977.3(CASP10):c.*2831C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000392719] Chr2:201220572 [GRCh38]
Chr2:202085295 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_032977.4(CASP10):c.1564T>A (p.Leu522Ile) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000393108]|not specified [RCV000455369] Chr2:201217736 [GRCh38]
Chr2:202082459 [GRCh37]
Chr2:2q33.1
benign
NM_032977.3(CASP10):c.*1920G>C single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000330296] Chr2:201219661 [GRCh38]
Chr2:202084384 [GRCh37]
Chr2:2q33.1
benign
NM_032977.3(CASP10):c.*815C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000330615] Chr2:201218556 [GRCh38]
Chr2:202083279 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_032977.3(CASP10):c.1350G>T (p.Arg450=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000349669] Chr2:201209497 [GRCh38]
Chr2:202074220 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_032977.3(CASP10):c.1502C>T (p.Pro501Leu) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000351475]|Autoimmune lymphoproliferative syndrome, type 2A [RCV000527750]|not specified [RCV000481210] Chr2:201217674 [GRCh38]
Chr2:202082397 [GRCh37]
Chr2:2q33.1
benign|likely benign|uncertain significance
NM_032977.3(CASP10):c.*3835G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000372491] Chr2:201221576 [GRCh38]
Chr2:202086299 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_032977.3(CASP10):c.*3365A>G single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000272948] Chr2:201221106 [GRCh38]
Chr2:202085829 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.*1909A>G single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000263423] Chr2:201219650 [GRCh38]
Chr2:202084373 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032974.5(CASP10):c.1416-9210del deletion Autoimmune lymphoproliferative syndrome [RCV000276360] Chr2:201219706 [GRCh38]
Chr2:202084429 [GRCh37]
Chr2:2q33.1
benign
NM_032977.3(CASP10):c.*3478T>G single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000267016] Chr2:201221219 [GRCh38]
Chr2:202085942 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.*333C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000268536] Chr2:201218074 [GRCh38]
Chr2:202082797 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_032977.3(CASP10):c.*1125T>C single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000401179] Chr2:201218866 [GRCh38]
Chr2:202083589 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032974.5(CASP10):c.1416-8598del deletion Autoimmune lymphoproliferative syndrome [RCV000384446] Chr2:201220329 [GRCh38]
Chr2:202085052 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032974.5(CASP10):c.1416-9015del deletion Autoimmune lymphoproliferative syndrome [RCV000333597] Chr2:201219917 [GRCh38]
Chr2:202084640 [GRCh37]
Chr2:2q33.1
likely benign
NM_032977.3(CASP10):c.*732T>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000319967] Chr2:201218473 [GRCh38]
Chr2:202083196 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.*905C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000387730] Chr2:201218646 [GRCh38]
Chr2:202083369 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.*2986C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000369371] Chr2:201220727 [GRCh38]
Chr2:202085450 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.*657G>C single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000373727] Chr2:201218398 [GRCh38]
Chr2:202083121 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.*2844C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000299273] Chr2:201220585 [GRCh38]
Chr2:202085308 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.*1366T>C single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000340239] Chr2:201219107 [GRCh38]
Chr2:202083830 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.*2600G>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000340559] Chr2:201220341 [GRCh38]
Chr2:202085064 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.*2869A>C single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000356573] Chr2:201220610 [GRCh38]
Chr2:202085333 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032974.5(CASP10):c.1415+8920del deletion Autoimmune lymphoproliferative syndrome [RCV000374646] Chr2:201218475 [GRCh38]
Chr2:202083198 [GRCh37]
Chr2:2q33.1
likely benign
NM_032974.5(CASP10):c.1416-8265_1416-8264del deletion Autoimmune lymphoproliferative syndrome [RCV000392735] Chr2:201220666..201220667 [GRCh38]
Chr2:202085389..202085390 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.*1038C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000288723] Chr2:201218779 [GRCh38]
Chr2:202083502 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.*2295T>A single nucleotide variant Autoimmune lymphoproliferative syndrome [RCV000289141] Chr2:201220036 [GRCh38]
Chr2:202084759 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.*2979C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000312299] Chr2:201220720 [GRCh38]
Chr2:202085443 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.*1257G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000289953] Chr2:201218998 [GRCh38]
Chr2:202083721 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.*2425C>G single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000327798] Chr2:201220166 [GRCh38]
Chr2:202084889 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.*1538T>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000360094] Chr2:201219279 [GRCh38]
Chr2:202084002 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.*3473T>G single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000377922] Chr2:201221214 [GRCh38]
Chr2:202085937 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.478G>A (p.Gly160Ser) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000552957] Chr2:201193020 [GRCh38]
Chr2:202057743 [GRCh37]
Chr2:2q33.1
uncertain significance
NC_000002.12:g.(?_201228913)_(201286614_?)del deletion Autoimmune lymphoproliferative syndrome type 2B [RCV000816628] Chr2:201228913..201286614 [GRCh38]
Chr2:202093636..202151337 [GRCh37]
Chr2:2q33.1
pathogenic
NM_032977.3(CASP10):c.1567T>C (p.Ter523Gln) single nucleotide variant not provided [RCV000599463] Chr2:201217739 [GRCh38]
Chr2:202082462 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.715A>T (p.Ser239Cys) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000541105] Chr2:201203760 [GRCh38]
Chr2:202068483 [GRCh37]
Chr2:2q33.1
likely benign
NM_032977.3(CASP10):c.491A>C (p.Glu164Ala) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000530796] Chr2:201193033 [GRCh38]
Chr2:202057756 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_032977.3(CASP10):c.683C>T (p.Pro228Leu) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000643931] Chr2:201195947 [GRCh38]
Chr2:202060670 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.1068G>T (p.Leu356=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000643934] Chr2:201209215 [GRCh38]
Chr2:202073938 [GRCh37]
Chr2:2q33.1
benign
NM_032977.3(CASP10):c.347+10G>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000643933] Chr2:201186134 [GRCh38]
Chr2:202050857 [GRCh37]
Chr2:2q33.1
likely benign
NM_032977.3(CASP10):c.1296C>T (p.Ala432=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000643937] Chr2:201209443 [GRCh38]
Chr2:202074166 [GRCh37]
Chr2:2q33.1
benign
NM_032976.3(CASP10):c.*179del deletion Autoimmune lymphoproliferative syndrome, type 2A [RCV000643926]|not provided [RCV001090654] Chr2:201209240 [GRCh38]
Chr2:202073963 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.953G>A (p.Gly318Glu) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000643928] Chr2:201209100 [GRCh38]
Chr2:202073823 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.247C>G (p.Leu83Val) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000643929] Chr2:201186024 [GRCh38]
Chr2:202050747 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.1415+18T>A single nucleotide variant not specified [RCV000613500] Chr2:201209580 [GRCh38]
Chr2:202074303 [GRCh37]
Chr2:2q33.1
likely benign
NM_032977.3(CASP10):c.920C>A (p.Ala307Asp) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000643927] Chr2:201208181 [GRCh38]
Chr2:202072904 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.1202_1208del (p.Cys401fs) deletion Autoimmune lymphoproliferative syndrome [RCV000986974]|Autoimmune lymphoproliferative syndrome, type 2A [RCV000643930] Chr2:201209349..201209355 [GRCh38]
Chr2:202074072..202074078 [GRCh37]
Chr2:2q33.1
benign|uncertain significance
NM_032977.3(CASP10):c.1101G>A (p.Ser367=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000698863] Chr2:201209248 [GRCh38]
Chr2:202073971 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.422C>A (p.Ser141Ter) single nucleotide variant Neoplasm of stomach [RCV000662116] Chr2:201187780 [GRCh38]
Chr2:202052503 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.507C>G (p.Cys169Trp) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000685255]|Autoimmune lymphoproliferative syndrome, type 2A [RCV001137522] Chr2:201193049 [GRCh38]
Chr2:202057772 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032976.3(CASP10):c.*357C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000767914] Chr2:201209418 [GRCh38]
Chr2:202074141 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032974.5(CASP10):c.1427T>G (p.Phe476Cys) single nucleotide variant Neoplasm of stomach [RCV000714834] Chr2:201228944 [GRCh38]
Chr2:202093667 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2q32.2-33.1(chr2:191750202-202297376)x1 copy number loss not provided [RCV000682165] Chr2:191750202..202297376 [GRCh37]
Chr2:2q32.2-33.1
pathogenic
NM_032977.3(CASP10):c.226C>A (p.Pro76Thr) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000700469] Chr2:201186003 [GRCh38]
Chr2:202050726 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.1460T>G (p.Val487Gly) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000686795] Chr2:201217632 [GRCh38]
Chr2:202082355 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.259C>T (p.Arg87Trp) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000689569] Chr2:201186036 [GRCh38]
Chr2:202050759 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.310C>T (p.Arg104Ter) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000692413] Chr2:201186087 [GRCh38]
Chr2:202050810 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.1197G>T (p.Gln399His) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000706550] Chr2:201209344 [GRCh38]
Chr2:202074067 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.516C>G (p.Asp172Glu) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000695777] Chr2:201193058 [GRCh38]
Chr2:202057781 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.1297G>A (p.Glu433Lys) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000705201] Chr2:201209444 [GRCh38]
Chr2:202074167 [GRCh37]
Chr2:2q33.1
uncertain significance
Single allele deletion Pulmonary arterial hypertension [RCV001004033] Chr2:201106432..204901548 [GRCh37]
Chr2:2q33.1-33.3
pathogenic
NM_001230.5(CASP10):c.604_605insGTGTCACG (p.Asp202fs) insertion not provided [RCV000722434] Chr2:201195867..201195868 [GRCh38]
Chr2:202060590..202060591 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.176_177delinsGG (p.Ser59Trp) indel Autoimmune lymphoproliferative syndrome, type 2A [RCV001226117]|not provided [RCV000723243] Chr2:201185953..201185954 [GRCh38]
Chr2:202050676..202050677 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q33.1(chr2:201692776-202127717)x3 copy number gain not provided [RCV000740841] Chr2:201692776..202127717 [GRCh37]
Chr2:2q33.1
benign
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2
pathogenic
NM_032977.4(CASP10):c.-8+5G>A single nucleotide variant Autoimmune lymphoproliferative syndrome [RCV000986971]|Autoimmune lymphoproliferative syndrome, type 2A [RCV001140397] Chr2:201183313 [GRCh38]
Chr2:202048036 [GRCh37]
Chr2:2q33.1
benign|uncertain significance
NM_032977.4(CASP10):c.295A>G (p.Lys99Glu) single nucleotide variant not provided [RCV000967674] Chr2:201186072 [GRCh38]
Chr2:202050795 [GRCh37]
Chr2:2q33.1
likely benign
NM_032977.4(CASP10):c.1415+1G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001056069] Chr2:201209563 [GRCh38]
Chr2:202074286 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.750C>T (p.Ser250=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000898075] Chr2:201205910 [GRCh38]
Chr2:202070633 [GRCh37]
Chr2:2q33.1
likely benign
NM_032977.4(CASP10):c.1227C>T (p.Ser409=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000940185] Chr2:201209374 [GRCh38]
Chr2:202074097 [GRCh37]
Chr2:2q33.1
likely benign
NM_032977.4(CASP10):c.1452C>T (p.Asn484=) single nucleotide variant not provided [RCV000919605] Chr2:201217624 [GRCh38]
Chr2:202082347 [GRCh37]
Chr2:2q33.1
likely benign
NM_032977.4(CASP10):c.117C>T (p.Leu39=) single nucleotide variant not provided [RCV000942379] Chr2:201185894 [GRCh38]
Chr2:202050617 [GRCh37]
Chr2:2q33.1
likely benign
NM_032977.4(CASP10):c.930G>T (p.Leu310=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000902292]|Autoimmune lymphoproliferative syndrome, type 2A [RCV001142353] Chr2:201209077 [GRCh38]
Chr2:202073800 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_032977.4(CASP10):c.348-4T>C single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000945287] Chr2:201187702 [GRCh38]
Chr2:202052425 [GRCh37]
Chr2:2q33.1
likely benign
NM_032977.3(CASP10):c.1321G>A (p.Ala441Thr) single nucleotide variant Autoimmune lymphoproliferative syndrome [RCV000986975]|Autoimmune lymphoproliferative syndrome, type 2A [RCV000797490] Chr2:201209468 [GRCh38]
Chr2:202074191 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_032977.3(CASP10):c.413T>C (p.Leu138Pro) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000816305] Chr2:201187771 [GRCh38]
Chr2:202052494 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.199G>T (p.Ala67Ser) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000798226] Chr2:201185976 [GRCh38]
Chr2:202050699 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.664A>G (p.Thr222Ala) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000818794] Chr2:201195928 [GRCh38]
Chr2:202060651 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.616G>A (p.Glu206Lys) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000795532] Chr2:201195880 [GRCh38]
Chr2:202060603 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.1022G>T (p.Cys341Phe) single nucleotide variant not provided [RCV000997644] Chr2:201209169 [GRCh38]
Chr2:202073892 [GRCh37]
Chr2:2q33.1
uncertain significance
NC_000002.12:g.(?_201203710)_(201209582_?)del deletion Autoimmune lymphoproliferative syndrome, type 2A [RCV000811359] Chr2:201203710..201209582 [GRCh38]
Chr2:202068433..202074305 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.1348C>T (p.Arg450Trp) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000811538] Chr2:201209495 [GRCh38]
Chr2:202074218 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.*3437C>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001137837] Chr2:201221178 [GRCh38]
Chr2:202085901 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.*1258G>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001137727] Chr2:201218999 [GRCh38]
Chr2:202083722 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.620C>T (p.Ser207Leu) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000809402]|Autoimmune lymphoproliferative syndrome, type 2A [RCV001140507] Chr2:201195884 [GRCh38]
Chr2:202060607 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.910C>T (p.His304Tyr) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000819249] Chr2:201208171 [GRCh38]
Chr2:202072894 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.3(CASP10):c.1148C>A (p.Ala383Asp) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000808329] Chr2:201209295 [GRCh38]
Chr2:202074018 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34
pathogenic
NM_032977.4(CASP10):c.*1327G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001137728] Chr2:201219068 [GRCh38]
Chr2:202083791 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.325C>T (p.Arg109Ter) single nucleotide variant Autoimmune lymphoproliferative syndrome [RCV000986972]|Autoimmune lymphoproliferative syndrome, type 2A [RCV001059623] Chr2:201186102 [GRCh38]
Chr2:202050825 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.1288A>T (p.Ile430Phe) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001066869] Chr2:201209435 [GRCh38]
Chr2:202074158 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.809C>A (p.Thr270Lys) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001221007] Chr2:201205969 [GRCh38]
Chr2:202070692 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.1282G>C (p.Asp428His) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001237359] Chr2:201209429 [GRCh38]
Chr2:202074152 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.365T>C (p.Leu122Pro) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001239989] Chr2:201187723 [GRCh38]
Chr2:202052446 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.389_393delinsC (p.Asn130fs) indel Autoimmune lymphoproliferative syndrome, type 2A [RCV001243497] Chr2:201187747..201187751 [GRCh38]
Chr2:202052470..202052474 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.477del (p.Gly160fs) deletion Autoimmune lymphoproliferative syndrome, type 2A [RCV001225895] Chr2:201193018 [GRCh38]
Chr2:202057741 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.838C>T (p.Arg280Trp) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001235636] Chr2:201208099 [GRCh38]
Chr2:202072822 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.887C>T (p.Ser296Phe) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001212025] Chr2:201208148 [GRCh38]
Chr2:202072871 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.1537T>C (p.Phe513Leu) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001226045] Chr2:201217709 [GRCh38]
Chr2:202082432 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.*1022C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001142478] Chr2:201218763 [GRCh38]
Chr2:202083486 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.*1954C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001140716] Chr2:201219695 [GRCh38]
Chr2:202084418 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.442-14T>G single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001137518] Chr2:201192970 [GRCh38]
Chr2:202057693 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.*1395G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001137729] Chr2:201219136 [GRCh38]
Chr2:202083859 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.534A>C (p.Val178=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000974046]|Autoimmune lymphoproliferative syndrome, type 2A [RCV001137523] Chr2:201193076 [GRCh38]
Chr2:202057799 [GRCh37]
Chr2:2q33.1
benign
NM_032977.4(CASP10):c.81T>C (p.Ile27=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001140398]|not provided [RCV000886335] Chr2:201185858 [GRCh38]
Chr2:202050581 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_032977.4(CASP10):c.1038C>T (p.Ala346=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000895779] Chr2:201209185 [GRCh38]
Chr2:202073908 [GRCh37]
Chr2:2q33.1
likely benign
NM_032977.4(CASP10):c.1041C>T (p.Asp347=) single nucleotide variant not provided [RCV000930834] Chr2:201209188 [GRCh38]
Chr2:202073911 [GRCh37]
Chr2:2q33.1
likely benign
NM_032977.4(CASP10):c.*1624T>C single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001139959] Chr2:201219365 [GRCh38]
Chr2:202084088 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.*3613C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001140080] Chr2:201221354 [GRCh38]
Chr2:202086077 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.*607G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001140616] Chr2:201218348 [GRCh38]
Chr2:202083071 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.1226C>A (p.Ser409Tyr) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001218983] Chr2:201209373 [GRCh38]
Chr2:202074096 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.596C>T (p.Pro199Leu) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001244908] Chr2:201195860 [GRCh38]
Chr2:202060583 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.786C>G (p.Asn262Lys) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001036098] Chr2:201205946 [GRCh38]
Chr2:202070669 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.555A>G (p.Ile185Met) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001236718] Chr2:201193097 [GRCh38]
Chr2:202057820 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.1416-3C>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001227355] Chr2:201217585 [GRCh38]
Chr2:202082308 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.554T>C (p.Ile185Thr) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001219990] Chr2:201193096 [GRCh38]
Chr2:202057819 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.*846A>G single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001142476] Chr2:201218587 [GRCh38]
Chr2:202083310 [GRCh37]
Chr2:2q33.1
benign
NM_032977.4(CASP10):c.*911T>G single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001142477] Chr2:201218652 [GRCh38]
Chr2:202083375 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.174C>A (p.Ala58=) single nucleotide variant not provided [RCV000934621] Chr2:201185951 [GRCh38]
Chr2:202050674 [GRCh37]
Chr2:2q33.1
likely benign
NM_032977.4(CASP10):c.923-8T>C single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV000935740] Chr2:201209062 [GRCh38]
Chr2:202073785 [GRCh37]
Chr2:2q33.1
likely benign
NM_032977.4(CASP10):c.753G>A (p.Leu251=) single nucleotide variant not provided [RCV000997643] Chr2:201205913 [GRCh38]
Chr2:202070636 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.1060T>C (p.Cys354Arg) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001142355] Chr2:201209207 [GRCh38]
Chr2:202073930 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.*3488G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001140077] Chr2:201221229 [GRCh38]
Chr2:202085952 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.*1542A>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001139958] Chr2:201219283 [GRCh38]
Chr2:202084006 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.*1914C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001140715] Chr2:201219655 [GRCh38]
Chr2:202084378 [GRCh37]
Chr2:2q33.1
benign
NM_032977.4(CASP10):c.*3845C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001140840] Chr2:201221586 [GRCh38]
Chr2:202086309 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.*3510G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001140078] Chr2:201221251 [GRCh38]
Chr2:202085974 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.*632G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001140617] Chr2:201218373 [GRCh38]
Chr2:202083096 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.721G>A (p.Gly241Ser) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001140508] Chr2:201203766 [GRCh38]
Chr2:202068489 [GRCh37]
Chr2:2q33.1
likely benign
NM_032977.4(CASP10):c.923-13T>G single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001142352] Chr2:201209057 [GRCh38]
Chr2:202073780 [GRCh37]
Chr2:2q33.1
benign
NC_000002.12:g.(?_201185758)_(201229103_?)dup duplication Autoimmune lymphoproliferative syndrome, type 2A [RCV001033690] Chr2:202050481..202093826 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.*2741C>G single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001142585] Chr2:201220482 [GRCh38]
Chr2:202085205 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.733A>C (p.Thr245Pro) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001047530] Chr2:201205893 [GRCh38]
Chr2:202070616 [GRCh37]
Chr2:2q33.1
uncertain significance
NC_000002.12:g.(?_201192964)_(201193139_?)dup duplication Autoimmune lymphoproliferative syndrome, type 2A [RCV001033687] Chr2:202057687..202057862 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.577+3A>G single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001218698] Chr2:201193122 [GRCh38]
Chr2:202057845 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.146A>G (p.Asn49Ser) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001205149] Chr2:201185923 [GRCh38]
Chr2:202050646 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.797C>T (p.Ser266Phe) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001053680] Chr2:201205957 [GRCh38]
Chr2:202070680 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.1198G>C (p.Ala400Pro) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001237042] Chr2:201209345 [GRCh38]
Chr2:202074068 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.802A>C (p.Thr268Pro) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001051190] Chr2:201205962 [GRCh38]
Chr2:202070685 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.1025A>G (p.Asn342Ser) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001142354] Chr2:201209172 [GRCh38]
Chr2:202073895 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032976.3(CASP10):c.-314G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001139641] Chr2:201183002 [GRCh38]
Chr2:202047725 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.*116C>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001139833] Chr2:201217857 [GRCh38]
Chr2:202082580 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.*367G>C single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001139834] Chr2:201218108 [GRCh38]
Chr2:202082831 [GRCh37]
Chr2:2q33.1
benign
NM_032977.4(CASP10):c.136T>G (p.Leu46Val) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001058981] Chr2:201185913 [GRCh38]
Chr2:202050636 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.721G>C (p.Gly241Arg) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001140509] Chr2:201203766 [GRCh38]
Chr2:202068489 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.*2381G>C single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001140717] Chr2:201220122 [GRCh38]
Chr2:202084845 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.208C>G (p.Leu70Val) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001040135] Chr2:201185985 [GRCh38]
Chr2:202050708 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.*1654C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001139960] Chr2:201219395 [GRCh38]
Chr2:202084118 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.*3591A>G single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001140079] Chr2:201221332 [GRCh38]
Chr2:202086055 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.913A>G (p.Lys305Glu) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001140510] Chr2:201208174 [GRCh38]
Chr2:202072897 [GRCh37]
Chr2:2q33.1
likely benign
NM_032977.4(CASP10):c.*733A>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001140618] Chr2:201218474 [GRCh38]
Chr2:202083197 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.142C>T (p.Pro48Ser) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001041091] Chr2:201185919 [GRCh38]
Chr2:202050642 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.502A>G (p.Thr168Ala) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001137521]|Autoimmune lymphoproliferative syndrome, type 2A [RCV001246546] Chr2:201193044 [GRCh38]
Chr2:202057767 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.*740T>G single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001142475] Chr2:201218481 [GRCh38]
Chr2:202083204 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.554T>G (p.Ile185Arg) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001042386] Chr2:201193096 [GRCh38]
Chr2:202057819 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.1418A>G (p.His473Arg) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001231867] Chr2:201217590 [GRCh38]
Chr2:202082313 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.553A>G (p.Ile185Val) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001063178] Chr2:201193095 [GRCh38]
Chr2:202057818 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_032977.4(CASP10):c.1207G>C (p.Gly403Arg) single nucleotide variant Autoimmune lymphoproliferative syndrome, type 2A [RCV001203757] Chr2:201209354 [GRCh38]
Chr2:202074077 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2q33.1(chr2:202011822-202749788)x1 copy number loss not provided [RCV001258573] Chr2:202011822..202749788 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1500 AgrOrtholog
COSMIC CASP10 COSMIC
Ensembl Genes ENSG00000003400 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000237865 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000272879 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000286186 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000314599 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000353250 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000363781 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000396835 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000401914 UniProtKB/TrEMBL
Ensembl Transcript ENST00000272879 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000286186 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000313728 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000346817 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000360132 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000374650 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000438843 UniProtKB/TrEMBL
  ENST00000448480 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000003400 GTEx
HGNC ID HGNC:1500 ENTREZGENE
Human Proteome Map CASP10 Human Proteome Map
InterPro Caspase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Caspase_10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Caspase_cys_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Caspase_his_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DEATH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DED_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pept_C14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pept_C14_p10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pept_C14_p20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pept_C14A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:843 UniProtKB/Swiss-Prot
NCBI Gene 843 ENTREZGENE
OMIM 601762 OMIM
  603909 OMIM
  605027 OMIM
  613659 OMIM
PANTHER PTHR10454 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10454:SF26 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26084 PharmGKB
PRINTS IL1BCENZYME UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CASPASE_CYS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CASPASE_HIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CASPASE_P10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CASPASE_P20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CASc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47986 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52129 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z3G5 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z3Z5 ENTREZGENE, UniProtKB/TrEMBL
  B4E3T5_HUMAN UniProtKB/TrEMBL
  CASPA_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q68HC0 UniProtKB/Swiss-Prot
  Q6KF62 UniProtKB/Swiss-Prot
  Q6KF63 UniProtKB/Swiss-Prot
  Q8IUP5 UniProtKB/Swiss-Prot
  Q8WYQ8 UniProtKB/Swiss-Prot
  Q99845 UniProtKB/Swiss-Prot
  Q9Y2U6 UniProtKB/Swiss-Prot
  Q9Y2U7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 CASP10  caspase 10    caspase 10, apoptosis-related cysteine peptidase  Symbol and/or name change 5135510 APPROVED