TNFRSF4 (TNF receptor superfamily member 4) - Rat Genome Database

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Gene: TNFRSF4 (TNF receptor superfamily member 4) Homo sapiens
Analyze
Symbol: TNFRSF4
Name: TNF receptor superfamily member 4
RGD ID: 737374
HGNC Page HGNC:11918
Description: Predicted to enable tumor necrosis factor receptor activity. Predicted to be involved in several processes, including negative regulation of apoptotic process; positive regulation of B cell proliferation; and regulation of gene expression. Predicted to act upstream of or within several processes, including cellular defense response; negative regulation of cytokine production; and tumor necrosis factor-mediated signaling pathway. Predicted to be located in cell surface. Predicted to be active in external side of plasma membrane. Implicated in immunodeficiency 16. Biomarker of cervical squamous cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ACT35; ACT35 antigen; ATC35 antigen; CD134; CD134 antigen; IMD16; lymphoid activation antigene ACT35; OX40; OX40 antigen; OX40 cell surface antigen; OX40 homologue; OX40L receptor; TAX transcriptionally-activated glycoprotein 1 receptor; tax-transcriptionally activated glycoprotein 1 receptor; tumor necrosis factor receptor superfamily member 4; tumor necrosis factor receptor superfamily, member 4; tumor necrosis factor superfamily, member 4; TXGP1L
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811,211,340 - 1,214,153 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11,211,326 - 1,214,153 (-)EnsemblGRCh38hg38GRCh38
GRCh3711,146,720 - 1,149,533 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611,136,569 - 1,139,375 (-)NCBINCBI36Build 36hg18NCBI36
Build 3411,186,629 - 1,189,435NCBI
Celera11,434,142 - 1,436,950 (+)NCBICelera
Cytogenetic Map1p36.33NCBI
HuRef1418,421 - 421,246 (-)NCBIHuRef
CHM1_111,133,180 - 1,136,022 (-)NCBICHM1_1
T2T-CHM13v2.01639,783 - 642,610 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. Antigens of activated rat T lymphocytes including a molecule of 50,000 Mr detected only on CD4 positive T blasts. Paterson DJ, etal., Mol Immunol 1987 Dec;24(12):1281-90.
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
7. Negative immune factors might predominate local tumor immune status and promote carcinogenesis in cervical carcinoma. Zhao M, etal., Virol J. 2017 Jan 13;14(1):5. doi: 10.1186/s12985-016-0670-8.
Additional References at PubMed
PMID:7510240   PMID:7704935   PMID:7737295   PMID:7749983   PMID:9418902   PMID:9488716   PMID:10626892   PMID:10861060   PMID:11346458   PMID:11470287   PMID:11479622   PMID:11567634  
PMID:11929124   PMID:12134113   PMID:12296857   PMID:12477932   PMID:12478477   PMID:12624783   PMID:14644025   PMID:15301860   PMID:15470070   PMID:15489334   PMID:15592478   PMID:15638367  
PMID:15778343   PMID:15808546   PMID:15941918   PMID:16232366   PMID:16329997   PMID:16380476   PMID:16456009   PMID:16710414   PMID:16750861   PMID:16905106   PMID:18174230   PMID:18327975  
PMID:18374895   PMID:18397322   PMID:18398332   PMID:18501882   PMID:18645038   PMID:18660703   PMID:18723571   PMID:18798503   PMID:18843780   PMID:18941188   PMID:18976975   PMID:18987746  
PMID:19029446   PMID:19253527   PMID:19538134   PMID:20139223   PMID:20306696   PMID:20331378   PMID:20376799   PMID:20400327   PMID:20485444   PMID:20634005   PMID:21086790   PMID:21111564  
PMID:21143648   PMID:21289304   PMID:21476935   PMID:21820713   PMID:21873635   PMID:22204816   PMID:22282196   PMID:22343199   PMID:22646697   PMID:23128233   PMID:23216302   PMID:23469620  
PMID:23502335   PMID:23651542   PMID:23674671   PMID:23896866   PMID:23936461   PMID:23948416   PMID:23953582   PMID:24595151   PMID:24752698   PMID:24756990   PMID:24797972   PMID:25008928  
PMID:25148371   PMID:25359291   PMID:25891357   PMID:26070486   PMID:26202244   PMID:26439988   PMID:26467721   PMID:26755473   PMID:26872462   PMID:27034329   PMID:27107937   PMID:27174092  
PMID:28612217   PMID:28892135   PMID:29321210   PMID:29352114   PMID:29529339   PMID:29661166   PMID:30408778   PMID:30590049   PMID:30723312   PMID:30923998   PMID:30944836   PMID:31240276  
PMID:31467932   PMID:31545443   PMID:31578271   PMID:31843013   PMID:32097938   PMID:32176307   PMID:32203221   PMID:32816951   PMID:32921275   PMID:33777009   PMID:33792041   PMID:33936071  
PMID:34205347   PMID:34453673   PMID:34830466   PMID:34908008   PMID:35019224   PMID:35265719   PMID:35562682   PMID:36151238   PMID:36591653   PMID:37742913   PMID:37932534   PMID:38142184  
PMID:38607026  


Genomics

Comparative Map Data
TNFRSF4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811,211,340 - 1,214,153 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11,211,326 - 1,214,153 (-)EnsemblGRCh38hg38GRCh38
GRCh3711,146,720 - 1,149,533 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611,136,569 - 1,139,375 (-)NCBINCBI36Build 36hg18NCBI36
Build 3411,186,629 - 1,189,435NCBI
Celera11,434,142 - 1,436,950 (+)NCBICelera
Cytogenetic Map1p36.33NCBI
HuRef1418,421 - 421,246 (-)NCBIHuRef
CHM1_111,133,180 - 1,136,022 (-)NCBICHM1_1
T2T-CHM13v2.01639,783 - 642,610 (-)NCBIT2T-CHM13v2.0
Tnfrsf4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394156,098,049 - 156,101,070 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4156,098,300 - 156,101,069 (+)EnsemblGRCm39 Ensembl
GRCm384156,013,595 - 156,016,613 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4156,013,843 - 156,016,612 (+)EnsemblGRCm38mm10GRCm38
MGSCv374155,387,804 - 155,390,698 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364154,857,495 - 154,860,389 (+)NCBIMGSCv36mm8
Celera4158,276,449 - 158,279,355 (+)NCBICelera
Cytogenetic Map4E2NCBI
cM Map487.68NCBI
Tnfrsf4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85171,889,134 - 171,891,824 (+)NCBIGRCr8
mRatBN7.25166,606,909 - 166,609,599 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5166,606,909 - 166,609,599 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5169,310,441 - 169,313,132 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05171,131,863 - 171,134,554 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05171,094,395 - 171,097,086 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05173,447,784 - 173,450,474 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5173,447,784 - 173,450,474 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05176,921,804 - 176,924,494 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45172,856,351 - 172,859,041 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15172,866,845 - 172,869,536 (+)NCBI
Celera5164,807,766 - 164,810,456 (+)NCBICelera
Cytogenetic Map5q36NCBI
Tnfrsf4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554869,567,220 - 9,569,676 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554869,565,424 - 9,569,836 (+)NCBIChiLan1.0ChiLan1.0
TNFRSF4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21227,011,897 - 227,014,893 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11225,707,527 - 225,711,573 (+)NCBINHGRI_mPanPan1
PanPan1.111,168,706 - 1,171,341 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11,168,935 - 1,171,337 (-)Ensemblpanpan1.1panPan2
TNFRSF4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1556,401,410 - 56,404,410 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl556,401,384 - 56,404,761 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha556,478,386 - 56,481,328 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0556,604,302 - 56,607,244 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1556,595,039 - 56,597,980 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0556,487,321 - 56,490,255 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0556,877,316 - 56,880,258 (-)NCBIUU_Cfam_GSD_1.0
Tnfrsf4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505827,561,562 - 27,567,137 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049367371,901,749 - 1,904,382 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TNFRSF4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl663,523,804 - 63,526,666 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1663,523,850 - 63,526,672 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2658,011,607 - 58,014,420 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TNFRSF4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120130,231,064 - 130,234,525 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl20130,231,584 - 130,234,313 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605434,799,764 - 34,803,311 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tnfrsf4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248188,373,810 - 8,376,204 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248188,372,092 - 8,376,108 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TNFRSF4
266 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003327.4(TNFRSF4):c.297C>T (p.Cys99=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV000544166] Chr1:1213065 [GRCh38]
Chr1:1148445 [GRCh37]
Chr1:1p36.33
benign
GRCh37/hg19 1q21.2(chr1:149041013-149699420)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050339]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050339]|See cases [RCV000050339] Chr1:149041013..149699420 [GRCh37]
Chr1:1q21.2
benign
GRCh38/hg38 1p36.33-36.32(chr1:844347-3006252)x1 copy number loss See cases [RCV000050857] Chr1:844347..3006252 [GRCh38]
Chr1:779727..2922816 [GRCh37]
Chr1:769590..2912676 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-3712147)x1 copy number loss See cases [RCV000050882] Chr1:844347..3712147 [GRCh38]
Chr1:779727..3628711 [GRCh37]
Chr1:769590..3618571 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-5682587)x1 copy number loss See cases [RCV000050642] Chr1:844347..5682587 [GRCh38]
Chr1:779727..5742647 [GRCh37]
Chr1:769590..5665234 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-3319395)x1 copy number loss See cases [RCV000050647] Chr1:844347..3319395 [GRCh38]
Chr1:779727..3235959 [GRCh37]
Chr1:769590..3225819 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1 copy number loss See cases [RCV000050752] Chr1:844347..2627474 [GRCh38]
Chr1:779727..2558913 [GRCh37]
Chr1:769590..2548773 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-6477436)x1 copy number loss See cases [RCV000051143] Chr1:844347..6477436 [GRCh38]
Chr1:779727..6537496 [GRCh37]
Chr1:769590..6460083 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3 copy number gain See cases [RCV000051779] Chr1:792758..5006311 [GRCh38]
Chr1:728138..5066371 [GRCh37]
Chr1:718001..4966231 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:826553-4719105)x3 copy number gain See cases [RCV000051780] Chr1:826553..4719105 [GRCh38]
Chr1:761933..4779165 [GRCh37]
Chr1:751796..4679025 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33(chr1:832679-1254039)x3 copy number gain See cases [RCV000051781] Chr1:832679..1254039 [GRCh38]
Chr1:768059..1189419 [GRCh37]
Chr1:757922..1179282 [NCBI36]
Chr1:1p36.33
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-6231924)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051782]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051782]|See cases [RCV000051782] Chr1:844347..6231924 [GRCh38]
Chr1:779727..6291984 [GRCh37]
Chr1:769590..6214571 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33(chr1:844347-2131805)x1 copy number loss See cases [RCV000052043] Chr1:844347..2131805 [GRCh38]
Chr1:779727..2063244 [GRCh37]
Chr1:769590..2053104 [NCBI36]
Chr1:1p36.33
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:845437-2523513)x1 copy number loss See cases [RCV000052044] Chr1:845437..2523513 [GRCh38]
Chr1:780817..2454952 [GRCh37]
Chr1:770680..2444812 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1 copy number loss See cases [RCV000052045] Chr1:859215..8747647 [GRCh38]
Chr1:794595..8807706 [GRCh37]
Chr1:784458..8730293 [NCBI36]
Chr1:1p36.33-36.23
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:870177-4426613)x1 copy number loss See cases [RCV000052063] Chr1:870177..4426613 [GRCh38]
Chr1:805557..4486673 [GRCh37]
Chr1:795420..4386533 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33(chr1:872305-2047715)x1 copy number loss See cases [RCV000052064] Chr1:872305..2047715 [GRCh38]
Chr1:807685..1979154 [GRCh37]
Chr1:797548..1969014 [NCBI36]
Chr1:1p36.33
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:872305-3054463)x1 copy number loss See cases [RCV000052065] Chr1:872305..3054463 [GRCh38]
Chr1:807685..2971027 [GRCh37]
Chr1:797548..2960887 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:872305-4133409)x1 copy number loss See cases [RCV000052066] Chr1:872305..4133409 [GRCh38]
Chr1:807685..4193469 [GRCh37]
Chr1:797548..4093329 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x3 copy number gain See cases [RCV000052067] Chr1:872305..2642603 [GRCh38]
Chr1:807685..2574042 [GRCh37]
Chr1:797548..2563902 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1 copy number loss See cases [RCV000051993] Chr1:629025..8537745 [GRCh38]
Chr1:564405..8597804 [GRCh37]
Chr1:554268..8520391 [NCBI36]
Chr1:1p36.33-36.23
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:629044-3346226)x1 copy number loss See cases [RCV000051994] Chr1:629044..3346226 [GRCh38]
Chr1:564424..3262790 [GRCh37]
Chr1:554287..3252650 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x1 copy number loss See cases [RCV000052068] Chr1:872305..2642603 [GRCh38]
Chr1:807685..2574042 [GRCh37]
Chr1:797548..2563902 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1084373-3367776)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052069]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052069]|See cases [RCV000052069] Chr1:1084373..3367776 [GRCh38]
Chr1:1019753..3284340 [GRCh37]
Chr1:1009616..3274200 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1 copy number loss See cases [RCV000051995] Chr1:629044..7008678 [GRCh38]
Chr1:564424..7068738 [GRCh37]
Chr1:554287..6991325 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:1181847-5507243)x1 copy number loss See cases [RCV000052070] Chr1:1181847..5507243 [GRCh38]
Chr1:1117227..5567303 [GRCh37]
Chr1:1107090..5489890 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-4155674)x1 copy number loss See cases [RCV000051996] Chr1:821713..4155674 [GRCh38]
Chr1:757093..4215734 [GRCh37]
Chr1:746956..4115594 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844147-5970026)x1 copy number loss See cases [RCV000052014] Chr1:844147..5970026 [GRCh38]
Chr1:779527..6030086 [GRCh37]
Chr1:769390..5952673 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844147-5827203)x1 copy number loss See cases [RCV000052015] Chr1:844147..5827203 [GRCh38]
Chr1:779527..5887263 [GRCh37]
Chr1:769390..5809850 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844147-2963530)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052016]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052016]|See cases [RCV000052016] Chr1:844147..2963530 [GRCh38]
Chr1:779527..2880095 [GRCh37]
Chr1:769390..2869955 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844147-4598532)x1 copy number loss See cases [RCV000052017] Chr1:844147..4598532 [GRCh38]
Chr1:779527..4658592 [GRCh37]
Chr1:769390..4558452 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844147-5020772)x1 copy number loss See cases [RCV000052018] Chr1:844147..5020772 [GRCh38]
Chr1:779527..5080832 [GRCh37]
Chr1:769390..4980692 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-5363885)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052037]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052037]|See cases [RCV000052037] Chr1:844347..5363885 [GRCh38]
Chr1:779727..5423945 [GRCh37]
Chr1:769590..5323805 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-10809098)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]|See cases [RCV000052038] Chr1:844347..10809098 [GRCh38]
Chr1:779727..10869155 [GRCh37]
Chr1:769590..10791742 [NCBI36]
Chr1:1p36.33-36.22
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-5431639)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052039]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052039]|See cases [RCV000052039] Chr1:844347..5431639 [GRCh38]
Chr1:779727..5491699 [GRCh37]
Chr1:769590..5414286 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-4665295)x1 copy number loss See cases [RCV000052040] Chr1:844347..4665295 [GRCh38]
Chr1:779727..4725355 [GRCh37]
Chr1:769590..4625215 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33(chr1:844347-2014739)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052041]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052041]|See cases [RCV000052041] Chr1:844347..2014739 [GRCh38]
Chr1:779727..1946178 [GRCh37]
Chr1:769590..1936038 [NCBI36]
Chr1:1p36.33
pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:844347-7151129)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052042]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052042]|See cases [RCV000052042] Chr1:844347..7151129 [GRCh38]
Chr1:779727..7211189 [GRCh37]
Chr1:769590..7133776 [NCBI36]
Chr1:1p36.33-36.23
pathogenic
NM_003327.4(TNFRSF4):c.193C>T (p.Arg65Cys) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV000082860] Chr1:1213738 [GRCh38]
Chr1:1149118 [GRCh37]
Chr1:1p36.33
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:911300-3614487)x3 copy number gain See cases [RCV000133658] Chr1:911300..3614487 [GRCh38]
Chr1:846680..3531051 [GRCh37]
Chr1:836543..3520911 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33(chr1:1013081-1722599)x1 copy number loss See cases [RCV000134145] Chr1:1013081..1722599 [GRCh38]
Chr1:948461..1654038 [GRCh37]
Chr1:938324..1643898 [NCBI36]
Chr1:1p36.33
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1118636-4179080)x1 copy number loss See cases [RCV000134211] Chr1:1118636..4179080 [GRCh38]
Chr1:1054016..4239140 [GRCh37]
Chr1:1043879..4139000 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844353-3487877)x1 copy number loss See cases [RCV000134747] Chr1:844353..3487877 [GRCh38]
Chr1:779733..3404441 [GRCh37]
Chr1:769596..3394301 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844353-5827192)x3 copy number gain See cases [RCV000134750] Chr1:844353..5827192 [GRCh38]
Chr1:779733..5887252 [GRCh37]
Chr1:769596..5809839 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1 copy number loss See cases [RCV000133943] Chr1:844347..6916587 [GRCh38]
Chr1:779727..6976647 [GRCh37]
Chr1:769590..6899234 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-4398122)x1 copy number loss See cases [RCV000134137] Chr1:844347..4398122 [GRCh38]
Chr1:779727..4458182 [GRCh37]
Chr1:769590..4358042 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844353-2420916)x1 copy number loss See cases [RCV000134055] Chr1:844353..2420916 [GRCh38]
Chr1:779733..2352355 [GRCh37]
Chr1:769596..2342215 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33(chr1:932163-1792271)x4 copy number gain See cases [RCV000134939] Chr1:932163..1792271 [GRCh38]
Chr1:867543..1723710 [GRCh37]
Chr1:857406..1713570 [NCBI36]
Chr1:1p36.33
likely benign
GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1 copy number loss See cases [RCV000136554] Chr1:844347..8171914 [GRCh38]
Chr1:779727..8231974 [GRCh37]
Chr1:769590..8154561 [NCBI36]
Chr1:1p36.33-36.23
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:874379-4973261)x1 copy number loss See cases [RCV000136715] Chr1:874379..4973261 [GRCh38]
Chr1:809759..5033321 [GRCh37]
Chr1:799622..4933181 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1 copy number loss See cases [RCV000136695] Chr1:844347..12470133 [GRCh38]
Chr1:779727..12530188 [GRCh37]
Chr1:769590..12452775 [NCBI36]
Chr1:1p36.33-36.22
pathogenic|likely pathogenic
GRCh38/hg38 1p36.33(chr1:821713-1223352)x1 copy number loss See cases [RCV000137560] Chr1:821713..1223352 [GRCh38]
Chr1:757093..1158732 [GRCh37]
Chr1:746956..1148595 [NCBI36]
Chr1:1p36.33
uncertain significance
GRCh38/hg38 1p36.33-36.32(chr1:1022094-4665295)x1 copy number loss See cases [RCV000137380] Chr1:1022094..4665295 [GRCh38]
Chr1:957474..4725355 [GRCh37]
Chr1:947337..4625215 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-3569891)x1 copy number loss See cases [RCV000138225] Chr1:821713..3569891 [GRCh38]
Chr1:757093..3486455 [GRCh37]
Chr1:746956..3476315 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-3928354)x3 copy number gain See cases [RCV000138165] Chr1:821713..3928354 [GRCh38]
Chr1:757093..3823583 [GRCh37]
Chr1:746956..3834778 [NCBI36]
Chr1:1p36.33-36.32
likely pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-2463016)x1 copy number loss See cases [RCV000137890] Chr1:821713..2463016 [GRCh38]
Chr1:757093..2394455 [GRCh37]
Chr1:746956..2384315 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-2463016)x4 copy number gain See cases [RCV000137894] Chr1:821713..2463016 [GRCh38]
Chr1:757093..2394455 [GRCh37]
Chr1:746956..2384315 [NCBI36]
Chr1:1p36.33-36.32
uncertain significance
GRCh38/hg38 1p36.33-36.32(chr1:821713-5239643)x1 copy number loss See cases [RCV000137978] Chr1:821713..5239643 [GRCh38]
Chr1:757093..5299703 [GRCh37]
Chr1:746956..5199563 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844353-3153909)x1 copy number loss See cases [RCV000138704] Chr1:844353..3153909 [GRCh38]
Chr1:779733..3070473 [GRCh37]
Chr1:769596..3060333 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1072906-2806838)x1 copy number loss See cases [RCV000138883] Chr1:1072906..2806838 [GRCh38]
Chr1:1008286..2723403 [GRCh37]
Chr1:998149..2713263 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1 copy number loss See cases [RCV000139404] Chr1:844353..6477474 [GRCh38]
Chr1:779733..6537534 [GRCh37]
Chr1:769596..6460121 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1 copy number loss See cases [RCV000138896] Chr1:821713..7000838 [GRCh38]
Chr1:757093..7060898 [GRCh37]
Chr1:746956..6983485 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:778698-4898439)x1 copy number loss See cases [RCV000140164] Chr1:778698..4898439 [GRCh38]
Chr1:714078..4958499 [GRCh37]
Chr1:703941..4858359 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33(chr1:1143156-1223303)x1 copy number loss See cases [RCV000140046] Chr1:1143156..1223303 [GRCh38]
Chr1:1078536..1158683 [GRCh37]
Chr1:1068399..1148546 [NCBI36]
Chr1:1p36.33
benign
GRCh38/hg38 1p36.33-36.32(chr1:821713-2554047)x1 copy number loss See cases [RCV000139876] Chr1:821713..2554047 [GRCh38]
Chr1:757093..2485486 [GRCh37]
Chr1:746956..2479281 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-3438208)x1 copy number loss See cases [RCV000139780] Chr1:821713..3438208 [GRCh38]
Chr1:757093..3354772 [GRCh37]
Chr1:746956..3344632 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-2636393)x1 copy number loss See cases [RCV000141208] Chr1:821713..2636393 [GRCh38]
Chr1:757093..2567832 [GRCh37]
Chr1:746956..2557692 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-5099990)x1 copy number loss See cases [RCV000141318] Chr1:821713..5099990 [GRCh38]
Chr1:757093..5160050 [GRCh37]
Chr1:746956..5059910 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-2976123)x1 copy number loss See cases [RCV000141227] Chr1:821713..2976123 [GRCh38]
Chr1:757093..2892687 [GRCh37]
Chr1:746956..2882547 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-4225085)x1 copy number loss See cases [RCV000141356] Chr1:821713..4225085 [GRCh38]
Chr1:757093..4285145 [GRCh37]
Chr1:746956..4185005 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:821713-5480263)x1 copy number loss See cases [RCV000140709] Chr1:821713..5480263 [GRCh38]
Chr1:757093..5540323 [GRCh37]
Chr1:746956..5462910 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:914086-2465738)x1 copy number loss See cases [RCV000140892] Chr1:914086..2465738 [GRCh38]
Chr1:849466..2397177 [GRCh37]
Chr1:839329..2387037 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:914086-3305463)x1 copy number loss See cases [RCV000140894] Chr1:914086..3305463 [GRCh38]
Chr1:849466..3222027 [GRCh37]
Chr1:839329..3211887 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1 copy number loss See cases [RCV000141970] Chr1:914086..9567122 [GRCh38]
Chr1:849466..9627180 [GRCh37]
Chr1:839329..9549767 [NCBI36]
Chr1:1p36.33-36.22
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:914086-3587042)x1 copy number loss See cases [RCV000141668] Chr1:914086..3587042 [GRCh38]
Chr1:849466..3503606 [GRCh37]
Chr1:839329..3493466 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1 copy number loss See cases [RCV000141577] Chr1:902111..9556305 [GRCh38]
Chr1:837491..9616363 [GRCh37]
Chr1:827354..9538950 [NCBI36]
Chr1:1p36.33-36.22
pathogenic
GRCh38/hg38 1p36.33(chr1:914086-1538895)x1 copy number loss See cases [RCV000142178] Chr1:914086..1538895 [GRCh38]
Chr1:849466..1474275 [GRCh37]
Chr1:839329..1464138 [NCBI36]
Chr1:1p36.33
likely pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:911300-2963389)x1 copy number loss See cases [RCV000142754] Chr1:911300..2963389 [GRCh38]
Chr1:846680..2879954 [GRCh37]
Chr1:836543..2869814 [NCBI36]
Chr1:1p36.33-36.32
pathogenic|likely pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1 copy number loss See cases [RCV000142651] Chr1:898721..7811306 [GRCh38]
Chr1:834101..7871366 [GRCh37]
Chr1:823964..7793953 [NCBI36]
Chr1:1p36.33-36.23
pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1 copy number loss See cases [RCV000142615] Chr1:911300..9329925 [GRCh38]
Chr1:846680..9389984 [GRCh37]
Chr1:836543..9312571 [NCBI36]
Chr1:1p36.33-36.22
pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1 copy number loss See cases [RCV000142709] Chr1:844347..7870545 [GRCh38]
Chr1:779727..7930605 [GRCh37]
Chr1:769590..7853192 [NCBI36]
Chr1:1p36.33-36.23
pathogenic
GRCh38/hg38 1p36.33(chr1:914086-1613769)x1 copy number loss See cases [RCV000143224] Chr1:914086..1613769 [GRCh38]
Chr1:849466..1549149 [GRCh37]
Chr1:839329..1539012 [NCBI36]
Chr1:1p36.33
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1 copy number loss See cases [RCV000148161] Chr1:844347..2627474 [GRCh38]
Chr1:779727..2558913 [GRCh37]
Chr1:769590..2548773 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:874455-2577794)x1 copy number loss See cases [RCV000240189] Chr1:874455..2577794 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
Single allele complex Breast ductal adenocarcinoma [RCV000207058] Chr1:909238..24706269 [GRCh37]
Chr1:1p36.33-36.11
uncertain significance
chr1:909238-16736132 complex variant complex Breast ductal adenocarcinoma [RCV000207094] Chr1:909238..16736132 [GRCh37]
Chr1:1p36.33-36.13
uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1 copy number loss See cases [RCV000239416] Chr1:82154..12699337 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1 copy number loss See cases [RCV000240403] Chr1:746608..15077159 [GRCh37]
Chr1:1p36.33-36.21
pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:874455-3177921)x1 copy number loss See cases [RCV000240333] Chr1:874455..3177921 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:852863-4203509)x3 copy number gain Distal trisomy 1p36 [RCV000519759] Chr1:852863..4203509 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:536777-6012896)x1 copy number loss not provided [RCV003312163] Chr1:536777..6012896 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2518608)x1 copy number loss See cases [RCV002285055] Chr1:849466..2518608 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
NM_003327.4(TNFRSF4):c.293T>C (p.Leu98Pro) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV000531541] Chr1:1213069 [GRCh38]
Chr1:1148449 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.619G>A (p.Val207Met) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV000556703]|not provided [RCV001702679] Chr1:1211957 [GRCh38]
Chr1:1147337 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.28C>T (p.Arg10Cys) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV000559880]|TNFRSF4-related disorder [RCV003915623] Chr1:1214100 [GRCh38]
Chr1:1149480 [GRCh37]
Chr1:1p36.33
benign
NM_003327.4(TNFRSF4):c.804C>T (p.Ala268=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV000537491] Chr1:1211585 [GRCh38]
Chr1:1146965 [GRCh37]
Chr1:1p36.33
benign
GRCh37/hg19 1p36.33-36.32(chr1:849466-3396845)x3 copy number gain See cases [RCV000449132] Chr1:849466..3396845 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6566086)x1 copy number loss See cases [RCV000449148] Chr1:849466..6566086 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-5318552)x1 copy number loss See cases [RCV000449322] Chr1:849466..5318552 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849466-9683808)x1 copy number loss See cases [RCV000446331] Chr1:849466..9683808 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:19225-4401691)x3 copy number gain See cases [RCV000447000] Chr1:19225..4401691 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4099471)x1 copy number loss See cases [RCV000446544] Chr1:849466..4099471 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:564424-3582058)x1 copy number loss See cases [RCV000447515] Chr1:564424..3582058 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-5707515)x1 copy number loss See cases [RCV000448903] Chr1:849466..5707515 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7300178)x1 copy number loss See cases [RCV000448061] Chr1:849466..7300178 [GRCh37]
Chr1:1p36.33-36.23
pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6374209)x1 copy number loss See cases [RCV000512052] Chr1:849466..6374209 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
NM_003327.4(TNFRSF4):c.534G>A (p.Glu178=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001516769]|not provided [RCV001613291]|not specified [RCV000455786] Chr1:1212042 [GRCh38]
Chr1:1147422 [GRCh37]
Chr1:1p36.33
benign
GRCh37/hg19 1p36.33-36.32(chr1:849466-4048535)x1 copy number loss See cases [RCV000510640] Chr1:849466..4048535 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.33(chr1:849466-1663402)x3 copy number gain See cases [RCV000510511] Chr1:849466..1663402 [GRCh37]
Chr1:1p36.33
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6505278)x1 copy number loss See cases [RCV000510494] Chr1:849466..6505278 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2607016)x1 copy number loss See cases [RCV000511408] Chr1:849466..2607016 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2330338)x1 copy number loss See cases [RCV000512029] Chr1:849466..2330338 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7637060)x1 copy number loss See cases [RCV000511381] Chr1:849466..7637060 [GRCh37]
Chr1:1p36.33-36.23
pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2748837)x1 copy number loss See cases [RCV000511834] Chr1:849466..2748837 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2554275)x1 copy number loss See cases [RCV000510858] Chr1:849466..2554275 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
NM_003327.4(TNFRSF4):c.207G>A (p.Pro69=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV000651957] Chr1:1213724 [GRCh38]
Chr1:1149104 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.543C>T (p.Gly181=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV000651958] Chr1:1212033 [GRCh38]
Chr1:1147413 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.255G>A (p.Thr85=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV000651959] Chr1:1213676 [GRCh38]
Chr1:1149056 [GRCh37]
Chr1:1p36.33
likely benign
NC_000001.11:g.(?_1020153)_(1313808_?)del deletion Congenital myasthenic syndrome 8 [RCV000651427] Chr1:1020153..1313808 [GRCh38]
Chr1:955533..1249188 [GRCh37]
Chr1:1p36.33
pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-8901938)x1 copy number loss See cases [RCV000512568] Chr1:849466..8901938 [GRCh37]
Chr1:1p36.33-36.23
pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-5352492)x1 copy number loss See cases [RCV000512243] Chr1:849466..5352492 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:834101-6076140) copy number loss Primary dilated cardiomyopathy [RCV000626523] Chr1:834101..6076140 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
NM_003327.4(TNFRSF4):c.721C>T (p.Arg241Trp) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV000701380] Chr1:1211746 [GRCh38]
Chr1:1147126 [GRCh37]
Chr1:1p36.33
uncertain significance
GRCh37/hg19 1p36.33(chr1:849466-1314437)x1 copy number loss not provided [RCV000684531] Chr1:849466..1314437 [GRCh37]
Chr1:1p36.33
pathogenic
GRCh37/hg19 1p36.33(chr1:849466-2240632)x1 copy number loss not provided [RCV000684532] Chr1:849466..2240632 [GRCh37]
Chr1:1p36.33
pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4262915)x1 copy number loss not provided [RCV000684533] Chr1:849466..4262915 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7305595)x1 copy number loss not provided [RCV000684534] Chr1:849466..7305595 [GRCh37]
Chr1:1p36.33-36.23
pathogenic
GRCh37/hg19 1p36.33(chr1:1129318-2040693)x1 copy number loss not provided [RCV000684535] Chr1:1129318..2040693 [GRCh37]
Chr1:1p36.33
likely pathogenic
NM_003327.4(TNFRSF4):c.494T>C (p.Ile165Thr) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV000694602]|not provided [RCV003411616] Chr1:1212082 [GRCh38]
Chr1:1147462 [GRCh37]
Chr1:1p36.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003327.4(TNFRSF4):c.146-2A>G single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV000703839] Chr1:1213787 [GRCh38]
Chr1:1149167 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.80C>T (p.Thr27Met) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV000689630] Chr1:1214048 [GRCh38]
Chr1:1149428 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.448G>T (p.Ala150Ser) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV000705942] Chr1:1212128 [GRCh38]
Chr1:1147508 [GRCh37]
Chr1:1p36.33
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33(chr1:82154-1226512)x3 copy number gain not provided [RCV000736300] Chr1:82154..1226512 [GRCh37]
Chr1:1p36.33
benign
GRCh37/hg19 1p36.33-36.32(chr1:82154-3340855)x1 copy number loss not provided [RCV000736303] Chr1:82154..3340855 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:82154-7936272)x1 copy number loss not provided [RCV000736304] Chr1:82154..7936272 [GRCh37]
Chr1:1p36.33-36.23
pathogenic
GRCh37/hg19 1p36.33(chr1:47851-1165310)x1 copy number loss not provided [RCV000736293] Chr1:47851..1165310 [GRCh37]
Chr1:1p36.33
benign
GRCh37/hg19 1p36.33-36.31(chr1:47851-6659872)x1 copy number loss not provided [RCV000736294] Chr1:47851..6659872 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
GRCh37/hg19 1p36.33(chr1:82154-1289835)x3 copy number gain not provided [RCV000736301] Chr1:82154..1289835 [GRCh37]
Chr1:1p36.33
benign
GRCh37/hg19 1p36.33(chr1:82154-1289863)x3 copy number gain not provided [RCV000736302] Chr1:82154..1289863 [GRCh37]
Chr1:1p36.33
benign
GRCh37/hg19 1p36.33(chr1:724519-1165310)x1 copy number loss not provided [RCV000736311] Chr1:724519..1165310 [GRCh37]
Chr1:1p36.33
uncertain significance
GRCh37/hg19 1p36.33(chr1:727037-1366830)x1 copy number loss not provided [RCV000748800] Chr1:727037..1366830 [GRCh37]
Chr1:1p36.33
likely benign
GRCh37/hg19 1p36.33-36.32(chr1:977062-5179574)x1 copy number loss not provided [RCV000748814] Chr1:977062..5179574 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.33(chr1:1040026-1156131)x1 copy number loss not provided [RCV000748817] Chr1:1040026..1156131 [GRCh37]
Chr1:1p36.33
pathogenic
GRCh37/hg19 1p36.33(chr1:1060174-1196471)x3 copy number gain not provided [RCV000748818] Chr1:1060174..1196471 [GRCh37]
Chr1:1p36.33
benign
GRCh37/hg19 1p36.33(chr1:1121794-1346905)x3 copy number gain not provided [RCV000748819] Chr1:1121794..1346905 [GRCh37]
Chr1:1p36.33
benign
GRCh37/hg19 1p36.33(chr1:1130727-1154157)x3 copy number gain not provided [RCV000748820] Chr1:1130727..1154157 [GRCh37]
Chr1:1p36.33
benign
GRCh37/hg19 1p36.33(chr1:1130727-1179762)x3 copy number gain not provided [RCV000748821] Chr1:1130727..1179762 [GRCh37]
Chr1:1p36.33
benign
GRCh37/hg19 1p36.33(chr1:1130727-1289863)x3 copy number gain not provided [RCV000748822] Chr1:1130727..1289863 [GRCh37]
Chr1:1p36.33
benign
GRCh37/hg19 1p36.33(chr1:1138913-1226512)x3 copy number gain not provided [RCV000748823] Chr1:1138913..1226512 [GRCh37]
Chr1:1p36.33
benign
GRCh37/hg19 1p36.33(chr1:1138913-1289863)x3 copy number gain not provided [RCV000748824] Chr1:1138913..1289863 [GRCh37]
Chr1:1p36.33
benign
NM_003327.4(TNFRSF4):c.75C>T (p.Thr25=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV000891796] Chr1:1214053 [GRCh38]
Chr1:1149433 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.486G>A (p.Ser162=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001431943] Chr1:1212090 [GRCh38]
Chr1:1147470 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.7G>C (p.Val3Leu) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV000907088] Chr1:1214121 [GRCh38]
Chr1:1149501 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.437+8G>A single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001459072] Chr1:1212630 [GRCh38]
Chr1:1148010 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.489C>T (p.Asp163=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001494340] Chr1:1212087 [GRCh38]
Chr1:1147467 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.42G>A (p.Ala14=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002066408] Chr1:1214086 [GRCh38]
Chr1:1149466 [GRCh37]
Chr1:1p36.33
benign
NM_003327.4(TNFRSF4):c.649G>A (p.Ala217Thr) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV000899635] Chr1:1211818 [GRCh38]
Chr1:1147198 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.447G>A (p.Leu149=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV000902911] Chr1:1212129 [GRCh38]
Chr1:1147509 [GRCh37]
Chr1:1p36.33
benign
NM_003327.4(TNFRSF4):c.745G>A (p.Asp249Asn) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001058976] Chr1:1211722 [GRCh38]
Chr1:1147102 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.202G>A (p.Gly68Arg) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001038436]|not specified [RCV004031072] Chr1:1213729 [GRCh38]
Chr1:1149109 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.614G>C (p.Arg205Pro) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001059919] Chr1:1211962 [GRCh38]
Chr1:1147342 [GRCh37]
Chr1:1p36.33
uncertain significance
GRCh37/hg19 1p36.33-36.31(chr1:823964-6828363) copy number loss Chromosome 1p36 deletion syndrome [RCV000767774] Chr1:823964..6828363 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:568708-2567832) copy number loss Chromosome 1p36 deletion syndrome [RCV000767776] Chr1:568708..2567832 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
NM_003327.4(TNFRSF4):c.35C>G (p.Pro12Arg) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001048845]|not specified [RCV004031529] Chr1:1214093 [GRCh38]
Chr1:1149473 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.194G>A (p.Arg65His) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001060936] Chr1:1213737 [GRCh38]
Chr1:1149117 [GRCh37]
Chr1:1p36.33
uncertain significance
GRCh37/hg19 1p36.33-36.23(chr1:82154-7637060)x1 copy number loss See cases [RCV000790584] Chr1:82154..7637060 [GRCh37]
Chr1:1p36.33-36.23
pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1 copy number loss See cases [RCV000790592] Chr1:82154..11784118 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
NM_003327.4(TNFRSF4):c.548C>G (p.Pro183Arg) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV000809370] Chr1:1212028 [GRCh38]
Chr1:1147408 [GRCh37]
Chr1:1p36.33
uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:568708-3662949) copy number loss Chromosome 1p36 deletion syndrome [RCV000767775] Chr1:568708..3662949 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
NM_003327.4(TNFRSF4):c.764-2del deletion Combined immunodeficiency due to OX40 deficiency [RCV000793166] Chr1:1211627 [GRCh38]
Chr1:1147007 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.618C>T (p.Pro206=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV000905382] Chr1:1211958 [GRCh38]
Chr1:1147338 [GRCh37]
Chr1:1p36.33
benign
NM_003327.4(TNFRSF4):c.132C>T (p.His44=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV000886977] Chr1:1213996 [GRCh38]
Chr1:1149376 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.679C>T (p.Leu227=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001451150] Chr1:1211788 [GRCh38]
Chr1:1147168 [GRCh37]
Chr1:1p36.33
likely benign
GRCh37/hg19 1p36.33(chr1:568708-1283779) copy number loss not provided [RCV000767825] Chr1:568708..1283779 [GRCh37]
Chr1:1p36.33
likely pathogenic
NM_003327.4(TNFRSF4):c.604C>T (p.Pro202Ser) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV000813719]|not specified [RCV004028798] Chr1:1211972 [GRCh38]
Chr1:1147352 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.34C>T (p.Pro12Ser) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV000810307] Chr1:1214094 [GRCh38]
Chr1:1149474 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.614G>A (p.Arg205Gln) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV000819790] Chr1:1211962 [GRCh38]
Chr1:1147342 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.31G>A (p.Gly11Arg) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV000816564] Chr1:1214097 [GRCh38]
Chr1:1149477 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.370+8C>A single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001456911] Chr1:1212984 [GRCh38]
Chr1:1148364 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.197C>T (p.Pro66Leu) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV000807184] Chr1:1213734 [GRCh38]
Chr1:1149114 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.472G>T (p.Ala158Ser) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV000811263]|not provided [RCV001535448] Chr1:1212104 [GRCh38]
Chr1:1147484 [GRCh37]
Chr1:1p36.33
uncertain significance|not provided
NM_003327.4(TNFRSF4):c.408C>T (p.Gly136=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV000815467] Chr1:1212667 [GRCh38]
Chr1:1148047 [GRCh37]
Chr1:1p36.33
likely benign|uncertain significance
NC_000001.10:g.(?_1146915)_(1168668_?)dup duplication Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [RCV000813334] Chr1:1211535..1233288 [GRCh38]
Chr1:1146915..1168668 [GRCh37]
Chr1:1p36.33
uncertain significance
GRCh37/hg19 1p36.33(chr1:854277-1165197)x1 copy number loss not provided [RCV000848570] Chr1:854277..1165197 [GRCh37]
Chr1:1p36.33
uncertain significance
NC_000001.10:g.(?_955543)_(2957600_?)del deletion Shprintzen-Goldberg syndrome [RCV000816642] Chr1:955543..2957600 [GRCh37]
Chr1:1p36.33-36.32
uncertain significance
GRCh37/hg19 1p36.33(chr1:727731-2107858)x3 copy number gain not provided [RCV000846682] Chr1:727731..2107858 [GRCh37]
Chr1:1p36.33
uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:82154-3349513)x3 copy number gain See cases [RCV001007411] Chr1:82154..3349513 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
NM_003327.4(TNFRSF4):c.152G>C (p.Gly51Ala) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV000821371] Chr1:1213779 [GRCh38]
Chr1:1149159 [GRCh37]
Chr1:1p36.33
uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787413] Chr1:554375..9779842 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
NM_003327.4(TNFRSF4):c.822G>A (p.Leu274=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV000794483] Chr1:1211567 [GRCh38]
Chr1:1146947 [GRCh37]
Chr1:1p36.33
uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849466-4829059)x1 copy number loss not provided [RCV001005060] Chr1:849466..4829059 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
NM_003327.4(TNFRSF4):c.76G>A (p.Val26Met) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001065548] Chr1:1214052 [GRCh38]
Chr1:1149432 [GRCh37]
Chr1:1p36.33
uncertain significance
GRCh37/hg19 1p36.33(chr1:958859-1211292)x3 copy number gain not provided [RCV000847774] Chr1:958859..1211292 [GRCh37]
Chr1:1p36.33
uncertain significance
GRCh37/hg19 1p36.33-36.31(chr1:849466-6002955)x1 copy number loss not provided [RCV001005058] Chr1:849466..6002955 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566)x1 copy number loss not provided [RCV001005059] Chr1:849466..5625566 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
NM_003327.4(TNFRSF4):c.173G>T (p.Arg58Leu) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001239027] Chr1:1213758 [GRCh38]
Chr1:1149138 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.631G>A (p.Gly211Arg) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001222055]|not provided [RCV003405408] Chr1:1211945 [GRCh38]
Chr1:1147325 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.613C>T (p.Arg205Trp) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001222743] Chr1:1211963 [GRCh38]
Chr1:1147343 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.763+6T>A single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001246071] Chr1:1211698 [GRCh38]
Chr1:1147078 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.801G>C (p.Gln267His) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001241805] Chr1:1211588 [GRCh38]
Chr1:1146968 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.323G>A (p.Arg108His) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001246435] Chr1:1213039 [GRCh38]
Chr1:1148419 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.543C>A (p.Gly181=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV000940151] Chr1:1212033 [GRCh38]
Chr1:1147413 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.360G>A (p.Lys120=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001444461] Chr1:1213002 [GRCh38]
Chr1:1148382 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.111C>T (p.Pro37=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV000879033] Chr1:1214017 [GRCh38]
Chr1:1149397 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.470C>T (p.Pro157Leu) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV000967639]|TNFRSF4-related disorder [RCV003905934] Chr1:1212106 [GRCh38]
Chr1:1147486 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.333G>A (p.Ala111=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001207773] Chr1:1213029 [GRCh38]
Chr1:1148409 [GRCh37]
Chr1:1p36.33
likely benign|uncertain significance
NM_003327.4(TNFRSF4):c.37T>C (p.Cys13Arg) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001223899] Chr1:1214091 [GRCh38]
Chr1:1149471 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.471G>A (p.Pro157=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV000913536] Chr1:1212105 [GRCh38]
Chr1:1147485 [GRCh37]
Chr1:1p36.33
benign
NM_003327.4(TNFRSF4):c.177C>T (p.Ser59=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV000913794]|TNFRSF4-related disorder [RCV003933021] Chr1:1213754 [GRCh38]
Chr1:1149134 [GRCh37]
Chr1:1p36.33
likely benign
GRCh37/hg19 1p36.33-36.32(chr1:849467-2972435)x1 copy number loss not provided [RCV002472529] Chr1:849467..2972435 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.33(chr1:849467-1174365)x3 copy number gain not provided [RCV002473433] Chr1:849467..1174365 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.20G>A (p.Arg7Gln) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001065495] Chr1:1214108 [GRCh38]
Chr1:1149488 [GRCh37]
Chr1:1p36.33
uncertain significance
GRCh37/hg19 1p36.33(chr1:849466-1649932)x1 copy number loss not provided [RCV001005056] Chr1:849466..1649932 [GRCh37]
Chr1:1p36.33
uncertain significance
GRCh37/hg19 1p36.33-36.23(chr1:849466-7786545)x1 copy number loss not provided [RCV001005057] Chr1:849466..7786545 [GRCh37]
Chr1:1p36.33-36.23
pathogenic
NM_003327.4(TNFRSF4):c.437+248C>T single nucleotide variant not provided [RCV001710251] Chr1:1212390 [GRCh38]
Chr1:1147770 [GRCh37]
Chr1:1p36.33
benign
NC_000001.11:g.(?_1013554)_(1313808_?)del deletion Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001032824] Chr1:948934..1249188 [GRCh37]
Chr1:1p36.33
uncertain significance
NC_000001.10:g.(?_955543)_(3350385_?)del deletion Left ventricular noncompaction 8 [RCV001033604] Chr1:955543..3350385 [GRCh37]
Chr1:1p36.33-36.32
uncertain significance
NM_003327.4(TNFRSF4):c.635-31T>G single nucleotide variant not provided [RCV001645953] Chr1:1211863 [GRCh38]
Chr1:1147243 [GRCh37]
Chr1:1p36.33
benign
NC_000001.10:g.(?_955543)_(2238214_?)del deletion Congenital myasthenic syndrome 8 [RCV001033252] Chr1:955543..2238214 [GRCh37]
Chr1:1p36.33
pathogenic
NM_003327.4(TNFRSF4):c.423C>T (p.Cys141=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001035985] Chr1:1212652 [GRCh38]
Chr1:1148032 [GRCh37]
Chr1:1p36.33
likely benign|uncertain significance
NM_003327.4(TNFRSF4):c.698T>C (p.Ile233Thr) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001235752] Chr1:1211769 [GRCh38]
Chr1:1147149 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.805G>A (p.Asp269Asn) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001232398] Chr1:1211584 [GRCh38]
Chr1:1146964 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.14C>A (p.Ala5Asp) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001212948] Chr1:1214114 [GRCh38]
Chr1:1149494 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.223G>A (p.Val75Met) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001212990] Chr1:1213708 [GRCh38]
Chr1:1149088 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.35C>T (p.Pro12Leu) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001054037] Chr1:1214093 [GRCh38]
Chr1:1149473 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.264C>A (p.Asn88Lys) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001052159] Chr1:1213667 [GRCh38]
Chr1:1149047 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.206C>T (p.Pro69Leu) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001207182] Chr1:1213725 [GRCh38]
Chr1:1149105 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.634+8C>T single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001211423] Chr1:1211934 [GRCh38]
Chr1:1147314 [GRCh37]
Chr1:1p36.33
uncertain significance
GRCh37/hg19 1p36.33-36.23(chr1:762080-7309686) copy number loss Harel-Yoon syndrome [RCV001254115] Chr1:762080..7309686 [GRCh37]
Chr1:1p36.33-36.23
likely pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804) copy number loss Chromosome 1p36 deletion syndrome, proximal [RCV002280717] Chr1:849466..10258804 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
GRCh37/hg19 1p36.33(chr1:849466-2033256)x1 copy number loss not provided [RCV001260111] Chr1:849466..2033256 [GRCh37]
Chr1:1p36.33
pathogenic
GRCh37/hg19 1p36.33(chr1:849466-1976788)x1 copy number loss not provided [RCV001260112] Chr1:849466..1976788 [GRCh37]
Chr1:1p36.33
pathogenic
GRCh37/hg19 1p36.33(chr1:849466-1806659)x1 copy number loss not provided [RCV001260110] Chr1:849466..1806659 [GRCh37]
Chr1:1p36.33
likely pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:1-5592835)x1 copy number loss not provided [RCV001260116] Chr1:1..5592835 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
NM_003327.4(TNFRSF4):c.437+5G>A single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001295684] Chr1:1212633 [GRCh38]
Chr1:1148013 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.767G>C (p.Gly256Ala) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001342158] Chr1:1211622 [GRCh38]
Chr1:1147002 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.371A>G (p.Asp124Gly) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001300620] Chr1:1212704 [GRCh38]
Chr1:1148084 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.722G>A (p.Arg241Gln) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001374090] Chr1:1211745 [GRCh38]
Chr1:1147125 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.638G>C (p.Arg213Pro) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001370802] Chr1:1211829 [GRCh38]
Chr1:1147209 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.490G>A (p.Ala164Thr) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001369578] Chr1:1212086 [GRCh38]
Chr1:1147466 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.332C>A (p.Ala111Glu) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001359682] Chr1:1213030 [GRCh38]
Chr1:1148410 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.239C>T (p.Pro80Leu) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001299889]|not specified [RCV004036155] Chr1:1213692 [GRCh38]
Chr1:1149072 [GRCh37]
Chr1:1p36.33
uncertain significance
GRCh37/hg19 1p36.33(chr1:753462-1717335)x1 copy number loss not provided [RCV001270634] Chr1:753462..1717335 [GRCh37]
Chr1:1p36.33
pathogenic
NM_003327.4(TNFRSF4):c.485C>T (p.Ser162Leu) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001338788] Chr1:1212091 [GRCh38]
Chr1:1147471 [GRCh37]
Chr1:1p36.33
uncertain significance
NC_000001.10:g.(?_1146915)_(1168668_?)dup duplication Combined immunodeficiency due to OX40 deficiency [RCV001319585]|Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [RCV000813334] Chr1:1146915..1168668 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.121C>T (p.Arg41Trp) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001364527] Chr1:1214007 [GRCh38]
Chr1:1149387 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.7G>A (p.Val3Met) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001308874] Chr1:1214121 [GRCh38]
Chr1:1149501 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.509del (p.Asp170fs) deletion Combined immunodeficiency due to OX40 deficiency [RCV001314038] Chr1:1212067 [GRCh38]
Chr1:1147447 [GRCh37]
Chr1:1p36.33
uncertain significance
NC_000001.10:g.(?_948954)_(1284445_?)dup duplication Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001305754]|not provided [RCV001308818] Chr1:948954..1284445 [GRCh37]
Chr1:1p36.33
uncertain significance|no classifications from unflagged records
NM_003327.4(TNFRSF4):c.332C>T (p.Ala111Val) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001316210] Chr1:1213030 [GRCh38]
Chr1:1148410 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.549G>A (p.Pro183=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001394161] Chr1:1212027 [GRCh38]
Chr1:1147407 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.146-15C>T single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001520583] Chr1:1213800 [GRCh38]
Chr1:1149180 [GRCh37]
Chr1:1p36.33
benign
NM_003327.4(TNFRSF4):c.387T>C (p.Pro129=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001500330] Chr1:1212688 [GRCh38]
Chr1:1148068 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.219C>T (p.Asn73=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001486303] Chr1:1213712 [GRCh38]
Chr1:1149092 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.371-16C>G single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001512227] Chr1:1212720 [GRCh38]
Chr1:1148100 [GRCh37]
Chr1:1p36.33
benign
NM_003327.4(TNFRSF4):c.510C>T (p.Asp170=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001400619] Chr1:1212066 [GRCh38]
Chr1:1147446 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.300G>C (p.Thr100=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001464091] Chr1:1213062 [GRCh38]
Chr1:1148442 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.634+25C>T single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001518517]|not provided [RCV001724331] Chr1:1211917 [GRCh38]
Chr1:1147297 [GRCh37]
Chr1:1p36.33
benign
NM_003327.4(TNFRSF4):c.370+11T>C single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001411924] Chr1:1212981 [GRCh38]
Chr1:1148361 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.702G>A (p.Leu234=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001440153] Chr1:1211765 [GRCh38]
Chr1:1147145 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.798G>A (p.Glu266=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001498298] Chr1:1211591 [GRCh38]
Chr1:1146971 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.738G>T (p.Leu246=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001490215] Chr1:1211729 [GRCh38]
Chr1:1147109 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.764-19C>T single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001519359]|not provided [RCV003405698] Chr1:1211644 [GRCh38]
Chr1:1147024 [GRCh37]
Chr1:1p36.33
benign|likely benign
NM_003327.4(TNFRSF4):c.186G>C (p.Thr62=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001464879] Chr1:1213745 [GRCh38]
Chr1:1149125 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.370+14C>T single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001523364] Chr1:1212978 [GRCh38]
Chr1:1148358 [GRCh37]
Chr1:1p36.33
benign
NM_003327.4(TNFRSF4):c.634+9G>A single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001397983] Chr1:1211933 [GRCh38]
Chr1:1147313 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.6C>T (p.Cys2=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001476851] Chr1:1214122 [GRCh38]
Chr1:1149502 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.36G>A (p.Pro12=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001418454] Chr1:1214092 [GRCh38]
Chr1:1149472 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.371-16C>T single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001512290] Chr1:1212720 [GRCh38]
Chr1:1148100 [GRCh37]
Chr1:1p36.33
benign|likely benign
Single allele deletion Chromosome 1p36 deletion syndrome [RCV002247723] Chr1:817861..1836133 [GRCh38]
Chr1:1p36.33
pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:753552-4034574)x1 copy number loss not provided [RCV001795535] Chr1:753552..4034574 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
NM_003327.4(TNFRSF4):c.185C>T (p.Thr62Met) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001945004] Chr1:1213746 [GRCh38]
Chr1:1149126 [GRCh37]
Chr1:1p36.33
uncertain significance
GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566) copy number loss Chromosome 1p36 deletion syndrome [RCV002280715] Chr1:849466..5625566 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
NM_003327.4(TNFRSF4):c.322C>T (p.Arg108Cys) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001873887]|not specified [RCV004038964] Chr1:1213040 [GRCh38]
Chr1:1148420 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.55C>G (p.Leu19Val) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001968642] Chr1:1214073 [GRCh38]
Chr1:1149453 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.1A>T (p.Met1Leu) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001970684] Chr1:1214127 [GRCh38]
Chr1:1149507 [GRCh37]
Chr1:1p36.33
uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849466-2621542)x1 copy number loss not provided [RCV001829223] Chr1:849466..2621542 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
NM_003327.4(TNFRSF4):c.646GCC[1] (p.Ala217del) microsatellite Combined immunodeficiency due to OX40 deficiency [RCV001915144] Chr1:1211816..1211818 [GRCh38]
Chr1:1147196..1147198 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.808G>A (p.Ala270Thr) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001987664] Chr1:1211581 [GRCh38]
Chr1:1146961 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.329G>A (p.Arg110Gln) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002004886] Chr1:1213033 [GRCh38]
Chr1:1148413 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.371-3C>T single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002040395] Chr1:1212707 [GRCh38]
Chr1:1148087 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.491C>A (p.Ala164Glu) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002022406] Chr1:1212085 [GRCh38]
Chr1:1147465 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.308A>G (p.Gln103Arg) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001893505] Chr1:1213054 [GRCh38]
Chr1:1148434 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.515dup (p.Ala173fs) duplication Combined immunodeficiency due to OX40 deficiency [RCV001984629] Chr1:1212060..1212061 [GRCh38]
Chr1:1147440..1147441 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.268+6C>T single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002003313] Chr1:1213657 [GRCh38]
Chr1:1149037 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.504C>G (p.Asp168Glu) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001890731] Chr1:1212072 [GRCh38]
Chr1:1147452 [GRCh37]
Chr1:1p36.33
uncertain significance
GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1 copy number loss not provided [RCV001832902] Chr1:849466..17525065 [GRCh37]
Chr1:1p36.33-36.13
pathogenic
NM_003327.4(TNFRSF4):c.668T>C (p.Leu223Pro) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001986556] Chr1:1211799 [GRCh38]
Chr1:1147179 [GRCh37]
Chr1:1p36.33
uncertain significance
NC_000001.10:g.(?_989123)_(3160711_?)del deletion Left ventricular noncompaction 8 [RCV002004579] Chr1:989123..3160711 [GRCh37]
Chr1:1p36.33-36.32
uncertain significance
NM_003327.4(TNFRSF4):c.669G>A (p.Leu223=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001909049] Chr1:1211798 [GRCh38]
Chr1:1147178 [GRCh37]
Chr1:1p36.33
likely benign|uncertain significance
NM_003327.4(TNFRSF4):c.764-1G>A single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001913149] Chr1:1211626 [GRCh38]
Chr1:1147006 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.217A>G (p.Asn73Asp) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001913397] Chr1:1213714 [GRCh38]
Chr1:1149094 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.314_315del (p.Thr105fs) microsatellite Combined immunodeficiency due to OX40 deficiency [RCV002020446] Chr1:1213047..1213048 [GRCh38]
Chr1:1148427..1148428 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.476G>A (p.Ser159Asn) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001908406] Chr1:1212100 [GRCh38]
Chr1:1147480 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.812A>G (p.His271Arg) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001947240] Chr1:1211577 [GRCh38]
Chr1:1146957 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.371-13_371-10del deletion Combined immunodeficiency due to OX40 deficiency [RCV001910457] Chr1:1212714..1212717 [GRCh38]
Chr1:1148094..1148097 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.438-44C>T single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001838901] Chr1:1212182 [GRCh38]
Chr1:1147562 [GRCh37]
Chr1:1p36.33
benign
NM_003327.4(TNFRSF4):c.419C>T (p.Ala140Val) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001999286] Chr1:1212656 [GRCh38]
Chr1:1148036 [GRCh37]
Chr1:1p36.33
uncertain significance
NC_000001.10:g.(?_949364)_(1198766_?)del deletion Congenital myasthenic syndrome 8 [RCV001956550] Chr1:949364..1198766 [GRCh37]
Chr1:1p36.33
pathogenic
NM_003327.4(TNFRSF4):c.580G>T (p.Ala194Ser) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001887289]|not specified [RCV004041575] Chr1:1211996 [GRCh38]
Chr1:1147376 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.145+5G>A single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001963558] Chr1:1213978 [GRCh38]
Chr1:1149358 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.493A>T (p.Ile165Phe) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001972262]|not specified [RCV004042910] Chr1:1212083 [GRCh38]
Chr1:1147463 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.6C>G (p.Cys2Trp) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001962229] Chr1:1214122 [GRCh38]
Chr1:1149502 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.88C>T (p.His30Tyr) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001940351] Chr1:1214040 [GRCh38]
Chr1:1149420 [GRCh37]
Chr1:1p36.33
uncertain significance
NC_000001.10:g.(?_861322)_(3768971_?)del deletion Combined immunodeficiency due to OX40 deficiency [RCV001919158]|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001923367]|Joubert syndrome 25 [RCV001923368]|Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency [RCV001919159]|Peroxisome biogenesis disorder, complementation group 7 [RCV001919157]|not provided [RCV001943250] Chr1:861322..3768971 [GRCh37]
Chr1:1p36.33-36.32
pathogenic|uncertain significance|no classifications from unflagged records
NM_003327.4(TNFRSF4):c.273T>A (p.Ser91Arg) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001993494]|not specified [RCV004044631] Chr1:1213089 [GRCh38]
Chr1:1148469 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.370G>C (p.Asp124His) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001903039] Chr1:1212992 [GRCh38]
Chr1:1148372 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.29G>T (p.Arg10Leu) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001989804] Chr1:1214099 [GRCh38]
Chr1:1149479 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.678del (p.Leu227fs) deletion Combined immunodeficiency due to OX40 deficiency [RCV001978674] Chr1:1211789 [GRCh38]
Chr1:1147169 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.19C>T (p.Arg7Trp) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001992648]|not specified [RCV004043729] Chr1:1214109 [GRCh38]
Chr1:1149489 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.391G>C (p.Gly131Arg) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001956612] Chr1:1212684 [GRCh38]
Chr1:1148064 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.40G>A (p.Ala14Thr) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001902760] Chr1:1214088 [GRCh38]
Chr1:1149468 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.253A>G (p.Thr85Ala) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001881418]|not specified [RCV004041386] Chr1:1213678 [GRCh38]
Chr1:1149058 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.220G>A (p.Asp74Asn) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002016618] Chr1:1213711 [GRCh38]
Chr1:1149091 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.104C>T (p.Thr35Ile) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001996477] Chr1:1214024 [GRCh38]
Chr1:1149404 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.370G>T (p.Asp124Tyr) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001977698] Chr1:1212992 [GRCh38]
Chr1:1148372 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.796G>A (p.Glu266Lys) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001974381] Chr1:1211593 [GRCh38]
Chr1:1146973 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.11G>A (p.Gly4Glu) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002046192] Chr1:1214117 [GRCh38]
Chr1:1149497 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.641_642del (p.Ala214fs) deletion Combined immunodeficiency due to OX40 deficiency [RCV001901215] Chr1:1211825..1211826 [GRCh38]
Chr1:1147205..1147206 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.667C>G (p.Leu223Val) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001997399] Chr1:1211800 [GRCh38]
Chr1:1147180 [GRCh37]
Chr1:1p36.33
uncertain significance
NC_000001.10:g.(?_861322)_(2161194_?)del deletion Idiopathic generalized epilepsy [RCV002050272] Chr1:861322..2161194 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.163C>T (p.Arg55Cys) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001982154]|not specified [RCV004042078] Chr1:1213768 [GRCh38]
Chr1:1149148 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.553A>G (p.Arg185Gly) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001906510] Chr1:1212023 [GRCh38]
Chr1:1147403 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.370+3G>A single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001915768] Chr1:1212989 [GRCh38]
Chr1:1148369 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.194G>T (p.Arg65Leu) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001975539] Chr1:1213737 [GRCh38]
Chr1:1149117 [GRCh37]
Chr1:1p36.33
uncertain significance
NC_000001.10:g.(?_955553)_(3350375_?)del deletion Left ventricular noncompaction 8 [RCV001955735] Chr1:955553..3350375 [GRCh37]
Chr1:1p36.33-36.32
uncertain significance
NM_003327.4(TNFRSF4):c.299C>T (p.Thr100Met) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV001902243] Chr1:1213063 [GRCh38]
Chr1:1148443 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.146-4G>A single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002109979] Chr1:1213789 [GRCh38]
Chr1:1149169 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.351C>T (p.Asp117=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002112010] Chr1:1213011 [GRCh38]
Chr1:1148391 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.150C>T (p.Asn50=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002106101] Chr1:1213781 [GRCh38]
Chr1:1149161 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.269-18dup duplication Combined immunodeficiency due to OX40 deficiency [RCV002124709] Chr1:1213110..1213111 [GRCh38]
Chr1:1148490..1148491 [GRCh37]
Chr1:1p36.33
benign
NM_003327.4(TNFRSF4):c.634+18_634+19delinsCC indel Combined immunodeficiency due to OX40 deficiency [RCV002190576] Chr1:1211923..1211924 [GRCh38]
Chr1:1147303..1147304 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.635-13C>A single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002192697] Chr1:1211845 [GRCh38]
Chr1:1147225 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.269-19C>G single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002090794] Chr1:1213112 [GRCh38]
Chr1:1148492 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.370+8C>T single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002089613] Chr1:1212984 [GRCh38]
Chr1:1148364 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.222C>T (p.Asp74=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002124639] Chr1:1213709 [GRCh38]
Chr1:1149089 [GRCh37]
Chr1:1p36.33
benign
NM_003327.4(TNFRSF4):c.764-8C>T single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002172637] Chr1:1211633 [GRCh38]
Chr1:1147013 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.687C>A (p.Gly229=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002095370]|TNFRSF4-related disorder [RCV003903324] Chr1:1211780 [GRCh38]
Chr1:1147160 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.269-10C>T single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002215191] Chr1:1213103 [GRCh38]
Chr1:1148483 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.117C>T (p.Asn39=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002133690] Chr1:1214011 [GRCh38]
Chr1:1149391 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.370+18G>C single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002189399] Chr1:1212974 [GRCh38]
Chr1:1148354 [GRCh37]
Chr1:1p36.33
benign
NM_003327.4(TNFRSF4):c.634+16C>T single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002114618] Chr1:1211926 [GRCh38]
Chr1:1147306 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.370+18G>A single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002126690] Chr1:1212974 [GRCh38]
Chr1:1148354 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.635-44_635-15del deletion Combined immunodeficiency due to OX40 deficiency [RCV002208636] Chr1:1211847..1211876 [GRCh38]
Chr1:1147227..1147256 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.682C>T (p.Leu228=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002195194] Chr1:1211785 [GRCh38]
Chr1:1147165 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.546C>T (p.Pro182=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002099725] Chr1:1212030 [GRCh38]
Chr1:1147410 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.378C>A (p.Ala126=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002201521] Chr1:1212697 [GRCh38]
Chr1:1148077 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.437+14C>A single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002218633] Chr1:1212624 [GRCh38]
Chr1:1148004 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.146-18C>T single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002143059] Chr1:1213803 [GRCh38]
Chr1:1149183 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.269-8C>T single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002139669] Chr1:1213101 [GRCh38]
Chr1:1148481 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.269-18C>G single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002097943] Chr1:1213111 [GRCh38]
Chr1:1148491 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.370+17C>T single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002181575] Chr1:1212975 [GRCh38]
Chr1:1148355 [GRCh37]
Chr1:1p36.33
benign
NM_003327.4(TNFRSF4):c.186G>A (p.Thr62=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002119416] Chr1:1213745 [GRCh38]
Chr1:1149125 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.816C>T (p.Ser272=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002157965] Chr1:1211573 [GRCh38]
Chr1:1146953 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.145+17G>A single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002119838] Chr1:1213966 [GRCh38]
Chr1:1149346 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.269-18C>T single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002083814] Chr1:1213111 [GRCh38]
Chr1:1148491 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.22C>T (p.Leu8=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002142052] Chr1:1214106 [GRCh38]
Chr1:1149486 [GRCh37]
Chr1:1p36.33
likely benign
NC_000001.10:g.(?_1146935)_(1168648_?)dup duplication Combined immunodeficiency due to OX40 deficiency [RCV003113254] Chr1:1146935..1168648 [GRCh37]
Chr1:1p36.33
uncertain significance
NC_000001.10:g.(?_980719)_(1168648_?)dup duplication Congenital myasthenic syndrome 8 [RCV003113991] Chr1:980719..1168648 [GRCh37]
Chr1:1p36.33
uncertain significance
GRCh37/hg19 1p36.33-36.23(chr1:834101-7930605)x1 copy number loss Chromosome 1p36 deletion syndrome [RCV002279763] Chr1:834101..7930605 [GRCh37]
Chr1:1p36.33-36.23
pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4183006) copy number loss Chromosome 1p36 deletion syndrome [RCV002280716] Chr1:849466..4183006 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:1130311-2397177)x3 copy number gain not provided [RCV002474934] Chr1:1130311..2397177 [GRCh37]
Chr1:1p36.33-36.32
uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1 copy number loss not provided [RCV002473951] Chr1:849467..12448956 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
GRCh37/hg19 1p36.33(chr1:1129319-1264880)x1 copy number loss not provided [RCV002474760] Chr1:1129319..1264880 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.634+11C>T single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002615827] Chr1:1211931 [GRCh38]
Chr1:1147311 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.751C>T (p.His251Tyr) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002727228] Chr1:1211716 [GRCh38]
Chr1:1147096 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.358A>G (p.Lys120Glu) single nucleotide variant not specified [RCV004137857] Chr1:1213004 [GRCh38]
Chr1:1148384 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.659GCCTGG[3] (p.Leu223_Val224insGlyLeu) microsatellite Combined immunodeficiency due to OX40 deficiency [RCV002974852] Chr1:1211796..1211797 [GRCh38]
Chr1:1147176..1147177 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.779G>C (p.Arg260Pro) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003033380] Chr1:1211610 [GRCh38]
Chr1:1146990 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.111del (p.Ser38fs) deletion Combined immunodeficiency due to OX40 deficiency [RCV002819513] Chr1:1214017 [GRCh38]
Chr1:1149397 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.756G>A (p.Lys252=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002948224] Chr1:1211711 [GRCh38]
Chr1:1147091 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.325T>G (p.Cys109Gly) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002968084]|not specified [RCV004065103] Chr1:1213037 [GRCh38]
Chr1:1148417 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.438-20C>T single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003076706] Chr1:1212158 [GRCh38]
Chr1:1147538 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.230G>A (p.Ser77Asn) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002617444] Chr1:1213701 [GRCh38]
Chr1:1149081 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.692del (p.Leu231fs) deletion Combined immunodeficiency due to OX40 deficiency [RCV002761654] Chr1:1211775 [GRCh38]
Chr1:1147155 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.485C>G (p.Ser162Trp) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002572139] Chr1:1212091 [GRCh38]
Chr1:1147471 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.30C>T (p.Arg10=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002761335] Chr1:1214098 [GRCh38]
Chr1:1149478 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.764-16C>T single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002740358] Chr1:1211641 [GRCh38]
Chr1:1147021 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.495C>A (p.Ile165=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003038193] Chr1:1212081 [GRCh38]
Chr1:1147461 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.16C>T (p.Arg6Trp) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003052881]|not specified [RCV004070209] Chr1:1214112 [GRCh38]
Chr1:1149492 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.510C>A (p.Asp170Glu) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003745550]|not specified [RCV004226143] Chr1:1212066 [GRCh38]
Chr1:1147446 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.269-3C>T single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002912865] Chr1:1213096 [GRCh38]
Chr1:1148476 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.635-3C>T single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002700719] Chr1:1211835 [GRCh38]
Chr1:1147215 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.145+20C>G single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002852879] Chr1:1213963 [GRCh38]
Chr1:1149343 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.81G>A (p.Thr27=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003058705] Chr1:1214047 [GRCh38]
Chr1:1149427 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.548del (p.Pro183fs) deletion Combined immunodeficiency due to OX40 deficiency [RCV003042436] Chr1:1212028 [GRCh38]
Chr1:1147408 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.146-4G>T single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002933213] Chr1:1213789 [GRCh38]
Chr1:1149169 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.275G>C (p.Gly92Ala) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002802122] Chr1:1213087 [GRCh38]
Chr1:1148467 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.268+17C>T single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002594674] Chr1:1213646 [GRCh38]
Chr1:1149026 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.328C>T (p.Arg110Trp) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003084428]|not specified [RCV004073137] Chr1:1213034 [GRCh38]
Chr1:1148414 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.371-5T>G single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002801004] Chr1:1212709 [GRCh38]
Chr1:1148089 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.145+20C>T single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003084453] Chr1:1213963 [GRCh38]
Chr1:1149343 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.438-17C>T single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002801139] Chr1:1212155 [GRCh38]
Chr1:1147535 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.551C>T (p.Ala184Val) single nucleotide variant not specified [RCV004106958] Chr1:1212025 [GRCh38]
Chr1:1147405 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.402C>T (p.Ser134=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002853483] Chr1:1212673 [GRCh38]
Chr1:1148053 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.413A>G (p.Asn138Ser) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002851703] Chr1:1212662 [GRCh38]
Chr1:1148042 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.426G>A (p.Lys142=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003040316] Chr1:1212649 [GRCh38]
Chr1:1148029 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.4T>C (p.Cys2Arg) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003009291] Chr1:1214124 [GRCh38]
Chr1:1149504 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.641C>T (p.Ala214Val) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003092039] Chr1:1211826 [GRCh38]
Chr1:1147206 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.234C>T (p.Ser78=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002715887] Chr1:1213697 [GRCh38]
Chr1:1149077 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.385C>T (p.Pro129Ser) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003060604] Chr1:1212690 [GRCh38]
Chr1:1148070 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.30C>G (p.Arg10=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002715816] Chr1:1214098 [GRCh38]
Chr1:1149478 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.370+2T>C single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003026839] Chr1:1212990 [GRCh38]
Chr1:1148370 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.146-32_146-15dup duplication Combined immunodeficiency due to OX40 deficiency [RCV002811522] Chr1:1213799..1213800 [GRCh38]
Chr1:1149179..1149180 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.96C>T (p.Val32=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003091326] Chr1:1214032 [GRCh38]
Chr1:1149412 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.240G>A (p.Pro80=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002651166] Chr1:1213691 [GRCh38]
Chr1:1149071 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.634+12T>A single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003051641] Chr1:1211930 [GRCh38]
Chr1:1147310 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.145+6G>A single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002586847] Chr1:1213977 [GRCh38]
Chr1:1149357 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.461C>A (p.Thr154Asn) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002611028] Chr1:1212115 [GRCh38]
Chr1:1147495 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.198G>T (p.Pro66=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002611138] Chr1:1213733 [GRCh38]
Chr1:1149113 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.125G>A (p.Cys42Tyr) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003068633] Chr1:1214003 [GRCh38]
Chr1:1149383 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.269-9C>T single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV002943407] Chr1:1213102 [GRCh38]
Chr1:1148482 [GRCh37]
Chr1:1p36.33
likely benign
GRCh37/hg19 1p36.33-36.32(chr1:1-2580976)x1 copy number loss Chromosome 1p36 deletion syndrome [RCV003226604] Chr1:1..2580976 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
NM_003327.4(TNFRSF4):c.172C>T (p.Arg58Cys) single nucleotide variant not specified [RCV004267221] Chr1:1213759 [GRCh38]
Chr1:1149139 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.654C>A (p.Ile218=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003873799] Chr1:1211813 [GRCh38]
Chr1:1147193 [GRCh37]
Chr1:1p36.33
likely benign
GRCh37/hg19 1p36.33-36.32(chr1:1129319-3615916)x3 copy number gain not provided [RCV003484001] Chr1:1129319..3615916 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.33(chr1:1138880-1647481)x3 copy number gain not provided [RCV003484002] Chr1:1138880..1647481 [GRCh37]
Chr1:1p36.33
uncertain significance
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3 copy number gain Trisomy 12p [RCV003447845] Chr1:99125..34026935 [GRCh38]
Chr1:1p36.33-35.1
pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1 copy number loss not provided [RCV003482961] Chr1:849467..9627901 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:1089596-2607016)x3 copy number gain not provided [RCV003483999] Chr1:1089596..2607016 [GRCh37]
Chr1:1p36.33-36.32
uncertain significance
GRCh37/hg19 1p36.33(chr1:849467-1207958)x3 copy number gain not provided [RCV003483998] Chr1:849467..1207958 [GRCh37]
Chr1:1p36.33
uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849467-3500877)x1 copy number loss not provided [RCV003482983] Chr1:849467..3500877 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
NM_003327.4(TNFRSF4):c.446T>C (p.Leu149Ser) single nucleotide variant TNFRSF4-related disorder [RCV003419033] Chr1:1212130 [GRCh38]
Chr1:1147510 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.549G>T (p.Pro183=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003743104] Chr1:1212027 [GRCh38]
Chr1:1147407 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.631G>C (p.Gly211Arg) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003743108] Chr1:1211945 [GRCh38]
Chr1:1147325 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.146-17G>A single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003833898] Chr1:1213802 [GRCh38]
Chr1:1149182 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.54C>T (p.Leu18=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003743400] Chr1:1214074 [GRCh38]
Chr1:1149454 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.173G>A (p.Arg58His) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003745741] Chr1:1213758 [GRCh38]
Chr1:1149138 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.300G>A (p.Thr100=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003743511] Chr1:1213062 [GRCh38]
Chr1:1148442 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.269-16dup duplication Combined immunodeficiency due to OX40 deficiency [RCV003744101] Chr1:1213108..1213109 [GRCh38]
Chr1:1148488..1148489 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.762T>C (p.Pro254=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003744195] Chr1:1211705 [GRCh38]
Chr1:1147085 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.318C>G (p.Val106=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003744491] Chr1:1213044 [GRCh38]
Chr1:1148424 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.425A>G (p.Lys142Arg) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003745279] Chr1:1212650 [GRCh38]
Chr1:1148030 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.807C>T (p.Asp269=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003745628] Chr1:1211582 [GRCh38]
Chr1:1146962 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.178C>A (p.Gln60Lys) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003743360] Chr1:1213753 [GRCh38]
Chr1:1149133 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.809C>A (p.Ala270Asp) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003583367] Chr1:1211580 [GRCh38]
Chr1:1146960 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.393G>A (p.Gly131=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003745167] Chr1:1212682 [GRCh38]
Chr1:1148062 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.438-14C>T single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003583347] Chr1:1212152 [GRCh38]
Chr1:1147532 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.648C>T (p.Ala216=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003583684] Chr1:1211819 [GRCh38]
Chr1:1147199 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.370+15T>C single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003744142] Chr1:1212977 [GRCh38]
Chr1:1148357 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.329G>C (p.Arg110Pro) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003744158] Chr1:1213033 [GRCh38]
Chr1:1148413 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.243C>T (p.Cys81=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003583781] Chr1:1213688 [GRCh38]
Chr1:1149068 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.254C>T (p.Thr85Met) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003583804]|not specified [RCV004369383] Chr1:1213677 [GRCh38]
Chr1:1149057 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.634+5G>C single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003583816] Chr1:1211937 [GRCh38]
Chr1:1147317 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.128G>C (p.Cys43Ser) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003583898] Chr1:1214000 [GRCh38]
Chr1:1149380 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.201C>T (p.Cys67=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003583478]|TNFRSF4-related disorder [RCV003966497] Chr1:1213730 [GRCh38]
Chr1:1149110 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.354C>G (p.Ser118Arg) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003583482] Chr1:1213008 [GRCh38]
Chr1:1148388 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.198G>A (p.Pro66=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003583495] Chr1:1213733 [GRCh38]
Chr1:1149113 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.181A>G (p.Asn61Asp) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003583993] Chr1:1213750 [GRCh38]
Chr1:1149130 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.437+20G>T single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003583533] Chr1:1212618 [GRCh38]
Chr1:1147998 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.26G>C (p.Gly9Ala) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003743329] Chr1:1214102 [GRCh38]
Chr1:1149482 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.18G>C (p.Arg6=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003583602] Chr1:1214110 [GRCh38]
Chr1:1149490 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.521C>T (p.Thr174Met) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003583611] Chr1:1212055 [GRCh38]
Chr1:1147435 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.41C>T (p.Ala14Val) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003745261] Chr1:1214087 [GRCh38]
Chr1:1149467 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.146-84_328del deletion Combined immunodeficiency due to OX40 deficiency [RCV003583960] Chr1:1213034..1213869 [GRCh38]
Chr1:1148414..1149249 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.86T>G (p.Leu29Arg) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003583867] Chr1:1214042 [GRCh38]
Chr1:1149422 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.46C>G (p.Leu16Val) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003583685] Chr1:1214082 [GRCh38]
Chr1:1149462 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.192C>T (p.Cys64=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003583865] Chr1:1213739 [GRCh38]
Chr1:1149119 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.78G>T (p.Val26=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003583881] Chr1:1214050 [GRCh38]
Chr1:1149430 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.186G>T (p.Thr62=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003583880] Chr1:1213745 [GRCh38]
Chr1:1149125 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.314_315insT (p.Val106fs) insertion Combined immunodeficiency due to OX40 deficiency [RCV003583920] Chr1:1213047..1213048 [GRCh38]
Chr1:1148427..1148428 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.438-15C>T single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003583411] Chr1:1212153 [GRCh38]
Chr1:1147533 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.154A>G (p.Met52Val) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003583714] Chr1:1213777 [GRCh38]
Chr1:1149157 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.83G>A (p.Gly28Glu) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003744456] Chr1:1214045 [GRCh38]
Chr1:1149425 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.398T>C (p.Phe133Ser) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003744465] Chr1:1212677 [GRCh38]
Chr1:1148057 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.489C>G (p.Asp163Glu) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003815959] Chr1:1212087 [GRCh38]
Chr1:1147467 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.268+10C>T single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003583759] Chr1:1213653 [GRCh38]
Chr1:1149033 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.269-18del deletion Combined immunodeficiency due to OX40 deficiency [RCV003743448] Chr1:1213111 [GRCh38]
Chr1:1148491 [GRCh37]
Chr1:1p36.33
benign
NM_003327.4(TNFRSF4):c.526C>T (p.Pro176Ser) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003583779] Chr1:1212050 [GRCh38]
Chr1:1147430 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.161G>A (p.Ser54Asn) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003745117] Chr1:1213770 [GRCh38]
Chr1:1149150 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.370+9G>A single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003867430] Chr1:1212983 [GRCh38]
Chr1:1148363 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.212T>C (p.Phe71Ser) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003871746] Chr1:1213719 [GRCh38]
Chr1:1149099 [GRCh37]
Chr1:1p36.33
uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849466-4529103)x3 copy number gain not specified [RCV003986984] Chr1:849466..4529103 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
NM_003327.4(TNFRSF4):c.371-16C>A single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003869821] Chr1:1212720 [GRCh38]
Chr1:1148100 [GRCh37]
Chr1:1p36.33
likely benign
GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1 copy number loss not specified [RCV003986962] Chr1:849466..8966102 [GRCh37]
Chr1:1p36.33-36.23
pathogenic
NM_003327.4(TNFRSF4):c.774T>C (p.Ser258=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003745954] Chr1:1211615 [GRCh38]
Chr1:1146995 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.36G>C (p.Pro12=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003745960] Chr1:1214092 [GRCh38]
Chr1:1149472 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.779G>A (p.Arg260Gln) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003819004] Chr1:1211610 [GRCh38]
Chr1:1146990 [GRCh37]
Chr1:1p36.33
uncertain significance
NM_003327.4(TNFRSF4):c.213C>T (p.Phe71=) single nucleotide variant Combined immunodeficiency due to OX40 deficiency [RCV003820401] Chr1:1213718 [GRCh38]
Chr1:1149098 [GRCh37]
Chr1:1p36.33
likely benign
NM_003327.4(TNFRSF4):c.439T>C (p.Cys147Arg) single nucleotide variant not specified [RCV004473190] Chr1:1212137 [GRCh38]
Chr1:1147517 [GRCh37]
Chr1:1p36.33
uncertain significance
NC_000001.10:g.(?_1146935)_(3768971_?)del deletion Shprintzen-Goldberg syndrome [RCV004584004] Chr1:1146935..3768971 [GRCh37] uncertain significance
NC_000001.10:g.(?_955553)_(1168648_?)dup duplication Combined immunodeficiency due to OX40 deficiency [RCV004584119] Chr1:955553..1168648 [GRCh37] uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1044
Count of miRNA genes:585
Interacting mature miRNAs:691
Transcripts:ENST00000379236, ENST00000453580, ENST00000497869
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 152 360 323 20 702 17 284 66 16 45 125 653 3 636 16
Low 2151 2522 1192 462 1051 306 3703 2060 2812 304 1175 755 157 568 2679 2 1
Below cutoff 80 107 198 132 130 133 270 62 856 56 121 146 11 1 93 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_046896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001410709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007063145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AJ277151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL162741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW290885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW293499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX698290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX781381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC105070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC105072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ118974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S76792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000379236   ⟹   ENSP00000368538
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11,211,340 - 1,214,153 (-)Ensembl
RefSeq Acc Id: ENST00000453580
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11,212,019 - 1,213,498 (-)Ensembl
RefSeq Acc Id: ENST00000497869
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11,211,340 - 1,214,138 (-)Ensembl
RefSeq Acc Id: ENST00000699969   ⟹   ENSP00000514726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11,211,326 - 1,214,153 (-)Ensembl
RefSeq Acc Id: ENST00000699970   ⟹   ENSP00000514727
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11,211,340 - 1,214,133 (-)Ensembl
RefSeq Acc Id: ENST00000699971   ⟹   ENSP00000514728
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11,211,340 - 1,214,153 (-)Ensembl
RefSeq Acc Id: ENST00000699972
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11,211,340 - 1,214,153 (-)Ensembl
RefSeq Acc Id: ENST00000699973   ⟹   ENSP00000514729
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11,211,340 - 1,214,153 (-)Ensembl
RefSeq Acc Id: ENST00000699974   ⟹   ENSP00000514730
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11,211,340 - 1,214,153 (-)Ensembl
RefSeq Acc Id: ENST00000699975   ⟹   ENSP00000514731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11,211,340 - 1,214,153 (-)Ensembl
RefSeq Acc Id: ENST00000699976   ⟹   ENSP00000514732
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11,211,340 - 1,214,153 (-)Ensembl
RefSeq Acc Id: ENST00000699977   ⟹   ENSP00000514733
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11,211,340 - 1,214,153 (-)Ensembl
RefSeq Acc Id: ENST00000699978   ⟹   ENSP00000514734
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11,211,344 - 1,214,153 (-)Ensembl
RefSeq Acc Id: ENST00000699979   ⟹   ENSP00000514735
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11,211,345 - 1,214,152 (-)Ensembl
RefSeq Acc Id: NM_001410709   ⟹   NP_001397638
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811,211,340 - 1,214,153 (-)NCBI
T2T-CHM13v2.01639,797 - 642,610 (-)NCBI
RefSeq Acc Id: NM_003327   ⟹   NP_003318
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811,211,340 - 1,214,153 (-)NCBI
GRCh3711,146,706 - 1,149,703 (-)NCBI
Build 3611,136,569 - 1,139,375 (-)NCBI Archive
HuRef1418,421 - 421,246 (-)ENTREZGENE
CHM1_111,133,180 - 1,136,022 (-)NCBI
T2T-CHM13v2.01639,797 - 642,610 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011542074   ⟹   XP_011540376
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811,211,340 - 1,213,750 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011542076   ⟹   XP_011540378
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811,211,340 - 1,213,750 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011542077   ⟹   XP_011540379
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811,211,340 - 1,213,058 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054338603   ⟹   XP_054194578
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01639,783 - 642,207 (-)NCBI
RefSeq Acc Id: XM_054338604   ⟹   XP_054194579
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01639,797 - 642,207 (-)NCBI
RefSeq Acc Id: XM_054338605   ⟹   XP_054194580
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01639,783 - 641,442 (-)NCBI
RefSeq Acc Id: XR_007063145
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811,212,056 - 1,214,153 (-)NCBI
RefSeq Acc Id: NP_003318   ⟸   NM_003327
- Peptide Label: isoform 1 precursor
- UniProtKB: Q2M312 (UniProtKB/Swiss-Prot),   Q13663 (UniProtKB/Swiss-Prot),   Q5T7M0 (UniProtKB/Swiss-Prot),   P43489 (UniProtKB/Swiss-Prot),   A0A8V8TPN6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011540378   ⟸   XM_011542076
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011540376   ⟸   XM_011542074
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011540379   ⟸   XM_011542077
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000368538   ⟸   ENST00000379236
RefSeq Acc Id: ENSP00000514735   ⟸   ENST00000699979
RefSeq Acc Id: ENSP00000514734   ⟸   ENST00000699978
RefSeq Acc Id: ENSP00000514733   ⟸   ENST00000699977
RefSeq Acc Id: ENSP00000514731   ⟸   ENST00000699975
RefSeq Acc Id: ENSP00000514727   ⟸   ENST00000699970
RefSeq Acc Id: ENSP00000514728   ⟸   ENST00000699971
RefSeq Acc Id: ENSP00000514726   ⟸   ENST00000699969
RefSeq Acc Id: ENSP00000514729   ⟸   ENST00000699973
RefSeq Acc Id: ENSP00000514732   ⟸   ENST00000699976
RefSeq Acc Id: ENSP00000514730   ⟸   ENST00000699974
RefSeq Acc Id: NP_001397638   ⟸   NM_001410709
- Peptide Label: isoform 2 precursor
- UniProtKB: A0A8V8TPN6 (UniProtKB/TrEMBL),   A0A8V8TQH5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054194578   ⟸   XM_054338603
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054194580   ⟸   XM_054338605
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054194579   ⟸   XM_054338604
- Peptide Label: isoform X2
Protein Domains
TNFR-Cys

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P43489-F1-model_v2 AlphaFold P43489 1-277 view protein structure

Promoters
RGD ID:6809748
Promoter ID:HG_ACW:57
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid,   NB4
Transcripts:TNFRSF4.DAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 3611,137,501 - 1,138,377 (-)MPROMDB
RGD ID:6785377
Promoter ID:HG_KWN:131
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid,   NB4
Transcripts:ENST00000379234,   ENST00000379236,   OTTHUMT00000004087,   OTTHUMT00000004088
Position:
Human AssemblyChrPosition (strand)Source
Build 3611,138,926 - 1,140,387 (-)MPROMDB
RGD ID:6853700
Promoter ID:EPDNEW_H14
Type:initiation region
Name:TNFRSF4_1
Description:TNF receptor superfamily member 4
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
GRCh3811,214,153 - 1,214,213EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11918 AgrOrtholog
COSMIC TNFRSF4 COSMIC
Ensembl Genes ENSG00000186827 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000379236 ENTREZGENE
  ENST00000379236.4 UniProtKB/Swiss-Prot
  ENST00000497869 ENTREZGENE
  ENST00000699969.1 UniProtKB/TrEMBL
  ENST00000699970.1 UniProtKB/TrEMBL
  ENST00000699971.1 UniProtKB/TrEMBL
  ENST00000699972 ENTREZGENE
  ENST00000699973.1 UniProtKB/TrEMBL
  ENST00000699974 ENTREZGENE
  ENST00000699974.1 UniProtKB/TrEMBL
  ENST00000699975.1 UniProtKB/TrEMBL
  ENST00000699976.1 UniProtKB/TrEMBL
  ENST00000699977.1 UniProtKB/TrEMBL
  ENST00000699978.1 UniProtKB/TrEMBL
  ENST00000699979.1 UniProtKB/TrEMBL
Gene3D-CATH Tumor Necrosis Factor Receptor, subunit A, domain 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000186827 GTEx
HGNC ID HGNC:11918 ENTREZGENE
Human Proteome Map TNFRSF4 Human Proteome Map
InterPro TNFR/NGFR_Cys_rich_reg UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TNFR_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TNFRSF4_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7293 UniProtKB/Swiss-Prot
NCBI Gene 7293 ENTREZGENE
OMIM 600315 OMIM
PANTHER PTHR47881 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY MEMBER 4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TNFR_c6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36611 PharmGKB
PRINTS TNFACTORR4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TNFR_NGFR_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TNFR_NGFR_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Ephrin_rec_like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TNFR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP TNF receptor-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A8V8TP52_HUMAN UniProtKB/TrEMBL
  A0A8V8TP56_HUMAN UniProtKB/TrEMBL
  A0A8V8TPH3_HUMAN UniProtKB/TrEMBL
  A0A8V8TPH7_HUMAN UniProtKB/TrEMBL
  A0A8V8TPN6 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8TPP1_HUMAN UniProtKB/TrEMBL
  A0A8V8TQH5 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8TQH9_HUMAN UniProtKB/TrEMBL
  A0A8V8TQV3_HUMAN UniProtKB/TrEMBL
  A0A8V8TQV7_HUMAN UniProtKB/TrEMBL
  P43489 ENTREZGENE
  Q13663 ENTREZGENE
  Q2M312 ENTREZGENE
  Q5T7M0 ENTREZGENE
  TNR4_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q13663 UniProtKB/Swiss-Prot
  Q2M312 UniProtKB/Swiss-Prot
  Q5T7M0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-30 TNFRSF4  TNF receptor superfamily member 4  TNFRSF4  tumor necrosis factor receptor superfamily member 4  Symbol and/or name change 5135510 APPROVED
2015-11-24 TNFRSF4  tumor necrosis factor receptor superfamily member 4  TNFRSF4  tumor necrosis factor receptor superfamily, member 4  Symbol and/or name change 5135510 APPROVED