TNFRSF18 (TNF receptor superfamily member 18) - Rat Genome Database

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Gene: TNFRSF18 (TNF receptor superfamily member 18) Homo sapiens
Analyze
Symbol: TNFRSF18
Name: TNF receptor superfamily member 18
RGD ID: 1604651
HGNC Page HGNC:11914
Description: Predicted to enable tumor necrosis factor receptor activity. Involved in positive regulation of cell adhesion; positive regulation of leukocyte migration; and positive regulation of tyrosine phosphorylation of STAT protein. Predicted to be located in plasma membrane. Predicted to be active in external side of plasma membrane. Biomarker of HTLV-1-associated myelopathy/tropical spastic paraparesis and anogenital venereal wart.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: activation-inducible TNFR family receptor; AITR; CD357; ENERGEN; GITR; GITR-D; glucocorticoid-induced TNFR-related protein; TNF receptor superfamily activation-inducible protein; tumor necrosis factor receptor superfamily member 18; tumor necrosis factor receptor superfamily, member 18
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
GRCh3811,203,508 - 1,206,592 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11,203,508 - 1,206,592 (-)EnsemblGRCh38hg38GRCh38
GRCh3711,138,888 - 1,141,972 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611,128,751 - 1,131,952 (-)NCBINCBI36Build 36hg18NCBI36
Celera11,441,567 - 1,444,768 (+)NCBICelera
Cytogenetic Map1p36.33NCBI
HuRef1410,603 - 413,804 (-)NCBIHuRef
CHM1_111,125,362 - 1,128,563 (-)NCBICHM1_1
T2T-CHM13v2.01631,965 - 635,049 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Evaluation of T Regulatory Lymphocytes Transcription Factors in HTLV-1-Associated Myelopathy/Tropical Spastic Paraparesis (HAM/TSP) Patients. Ghezeldasht SA, etal., Appl Biochem Biotechnol. 2017 Aug;182(4):1403-1414. doi: 10.1007/s12010-017-2406-7. Epub 2017 Jan 18.
2. In vivo fluctuation of Tax, Foxp3, CTLA-4, and GITR mRNA expression in CD4(+)CD25(+) T cells of patients with human T-lymphotropic virus type 1-associated myelopathy. Ramirez E, etal., Braz J Med Biol Res. 2010 Nov;43(11):1109-15. doi: 10.1590/s0100-879x2010007500107. Epub 2010 Oct 8.
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Mechanistic investigation of immunosuppression in patients with condyloma acuminata. Shi YJ, etal., Mol Med Rep. 2013 Aug;8(2):480-6. doi: 10.3892/mmr.2013.1511. Epub 2013 Jun 6.
Additional References at PubMed
PMID:9177197   PMID:10037686   PMID:10074428   PMID:10836847   PMID:11812990   PMID:11869690   PMID:12070049   PMID:12477932   PMID:12975309   PMID:15301860   PMID:15340161   PMID:15944293  
PMID:16955181   PMID:17360848   PMID:17538882   PMID:18040044   PMID:18230609   PMID:18378892   PMID:18723571   PMID:18924213   PMID:18987746   PMID:19155305   PMID:19423540   PMID:19547759  
PMID:19573080   PMID:20237496   PMID:20331378   PMID:20406964   PMID:20438785   PMID:21445534   PMID:21557210   PMID:21592113   PMID:21670968   PMID:21694467   PMID:21705620   PMID:21873635  
PMID:22028176   PMID:22064350   PMID:22309286   PMID:22516990   PMID:22889411   PMID:22911397   PMID:23128233   PMID:23432692   PMID:23785514   PMID:23892569   PMID:23929911   PMID:23935647  
PMID:25256257   PMID:25293713   PMID:25445616   PMID:25961057   PMID:25973846   PMID:26497317   PMID:28542810   PMID:29427641   PMID:30484986   PMID:30719701   PMID:30755607   PMID:31118027  
PMID:31358539   PMID:31824170   PMID:32259529   PMID:32296183   PMID:32728688   PMID:32889153   PMID:33122602   PMID:33280089   PMID:33654081   PMID:33961781   PMID:34102305   PMID:34589088  
PMID:34908008   PMID:36155259  


Genomics

Comparative Map Data
TNFRSF18
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811,203,508 - 1,206,592 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11,203,508 - 1,206,592 (-)EnsemblGRCh38hg38GRCh38
GRCh3711,138,888 - 1,141,972 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611,128,751 - 1,131,952 (-)NCBINCBI36Build 36hg18NCBI36
Celera11,441,567 - 1,444,768 (+)NCBICelera
Cytogenetic Map1p36.33NCBI
HuRef1410,603 - 413,804 (-)NCBIHuRef
CHM1_111,125,362 - 1,128,563 (-)NCBICHM1_1
T2T-CHM13v2.01631,965 - 635,049 (-)NCBIT2T-CHM13v2.0
Tnfrsf18
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394156,110,779 - 156,113,351 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4156,110,621 - 156,113,352 (+)EnsemblGRCm39 Ensembl
GRCm384156,026,322 - 156,028,894 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4156,026,164 - 156,028,895 (+)EnsemblGRCm38mm10GRCm38
MGSCv374155,400,451 - 155,403,000 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364154,870,142 - 154,872,691 (+)NCBIMGSCv36mm8
Celera4158,288,886 - 158,291,431 (+)NCBICelera
Cytogenetic Map4E2NCBI
cM Map487.76NCBI
Tnfrsf18
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85171,901,734 - 171,904,578 (+)NCBIGRCr8
mRatBN7.25166,618,461 - 166,622,353 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5166,618,969 - 166,622,353 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5169,323,289 - 169,325,887 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05171,144,711 - 171,147,309 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05171,107,243 - 171,109,841 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05173,459,371 - 173,463,980 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5173,460,354 - 173,463,140 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05176,933,400 - 176,938,350 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45172,869,196 - 172,871,795 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera5164,820,612 - 164,823,210 (+)NCBICelera
Cytogenetic Map5q36NCBI
Tnfrsf18
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554869,571,530 - 9,573,733 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554869,571,527 - 9,573,733 (+)NCBIChiLan1.0ChiLan1.0
TNFRSF18
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21227,018,219 - 227,022,812 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11225,714,938 - 225,719,522 (+)NCBINHGRI_mPanPan1
PanPan1.111,160,540 - 1,163,839 (-)NCBIpanpan1.1PanPan1.1panPan2
TNFRSF18
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1556,394,559 - 56,397,502 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl556,394,659 - 56,397,741 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha556,471,888 - 56,474,440 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0556,597,800 - 56,600,352 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl556,597,546 - 56,600,352 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1556,588,543 - 56,591,095 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0556,480,829 - 56,483,381 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0556,870,818 - 56,873,370 (-)NCBIUU_Cfam_GSD_1.0
Tnfrsf18
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505827,555,513 - 27,560,643 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049367371,905,307 - 1,910,356 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TNFRSF18
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl663,516,045 - 63,518,405 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1663,516,037 - 63,519,323 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2658,018,980 - 58,021,594 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TNFRSF18
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120130,237,950 - 130,243,303 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl20130,225,847 - 130,242,251 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605434,806,938 - 34,812,229 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tnfrsf18
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248188,378,131 - 8,379,974 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248188,376,204 - 8,380,266 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TNFRSF18
52 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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(chr1:872305-2642603)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 1p36.33-36.32(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 1p36.33-36.31(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
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 1p36.33-36.22(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 1p36.33-36.32(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(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 1p36.33-36.32(chr1:852863-4203509)x3 copy number gain Distal trisomy 1p36 [RCV000519759] Chr1:852863..4203509 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.21(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
NM_004195.3(TNFRSF18):c.*246G>C single nucleotide variant not specified [RCV004318483] Chr1:1203598 [GRCh38]
Chr1:1138978 [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
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
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_004195.3(TNFRSF18):c.134C>T (p.Thr45Met) single nucleotide variant not specified [RCV004286191] Chr1:1206438 [GRCh38]
Chr1:1141818 [GRCh37]
Chr1:1p36.33		 uncertain significance
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
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
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(chr1:724519-1165310)x1 copy number loss not provided [RCV000736311] Chr1:724519..1165310 [GRCh37]
Chr1:1p36.33		 uncertain significance
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 1p36.33-36.32(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(chr1:727037-1366830)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
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
NM_004195.3(TNFRSF18):c.113G>A (p.Arg38His) single nucleotide variant not specified [RCV004317653] Chr1:1206459 [GRCh38]
Chr1:1141839 [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
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
NC_000001.11:g.(?_1013554)_(1313808_?)del deletion Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001032824] Chr1:948934..1249188 [GRCh37]
Chr1:1p36.33		 uncertain significance
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
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_004195.3(TNFRSF18):c.269G>A (p.Arg90Gln) single nucleotide variant not specified [RCV004309747] Chr1:1205411 [GRCh38]
Chr1:1140791 [GRCh37]
Chr1:1p36.33		 likely benign
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
GRCh37/hg19 1p36.33(chr1:568708-1283779) copy number loss not provided [RCV000767825] Chr1:568708..1283779 [GRCh37]
Chr1:1p36.33		 likely pathogenic
NC_000001.10:g.(?_955543)_(2957600_?)del deletion Shprintzen-Goldberg syndrome [RCV000816642] Chr1:955543..2957600 [GRCh37]
Chr1:1p36.33-36.32		 uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787413] Chr1:554375..9779842 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
GRCh37/hg19 1p36.33(chr1:854277-1165197)x1 copy number loss not provided [RCV000848570] Chr1:854277..1165197 [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 1p36.33-36.31(chr1:849466-6002955)x1 copy number loss not provided [RCV001005058] Chr1:849466..6002955 [GRCh37]
Chr1:1p36.33-36.31		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4829059)x1 copy number loss not provided [RCV001005060] Chr1:849466..4829059 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
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(chr1:727731-2107858)x3 copy number gain not provided [RCV000846682] Chr1:727731..2107858 [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
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
GRCh37/hg19 1p36.33(chr1:849467-1174365)x3 copy number gain not provided [RCV002473433] Chr1:849467..1174365 [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
NC_000001.10:g.(?_955543)_(2238214_?)del deletion Congenital myasthenic syndrome 8 [RCV001033252] Chr1:955543..2238214 [GRCh37]
Chr1:1p36.33		 pathogenic
NC_000001.10:g.(?_955543)_(3350385_?)del deletion Left ventricular noncompaction 8 [RCV001033604] Chr1:955543..3350385 [GRCh37]
Chr1:1p36.33-36.32		 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(chr1:849466-1806659)x1 copy number loss not provided [RCV001260110] Chr1:849466..1806659 [GRCh37]
Chr1:1p36.33		 likely 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 1p36.33-36.31(chr1:1-5592835)x1 copy number loss not provided [RCV001260116] Chr1:1..5592835 [GRCh37]
Chr1:1p36.33-36.31		 pathogenic
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
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
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
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
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
NC_000001.10:g.(?_989123)_(3160711_?)del deletion Left ventricular noncompaction 8 [RCV002004579] Chr1:989123..3160711 [GRCh37]
Chr1:1p36.33-36.32		 uncertain significance
NC_000001.10:g.(?_949364)_(1198766_?)del deletion Congenital myasthenic syndrome 8 [RCV001956550] Chr1:949364..1198766 [GRCh37]
Chr1:1p36.33		 pathogenic
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
NC_000001.10:g.(?_955553)_(3350375_?)del deletion Left ventricular noncompaction 8 [RCV001955735] Chr1:955553..3350375 [GRCh37]
Chr1:1p36.33-36.32		 uncertain significance
NC_000001.10:g.(?_861322)_(2161194_?)del deletion Idiopathic generalized epilepsy [RCV002050272] Chr1:861322..2161194 [GRCh37]
Chr1:1p36.33		 uncertain significance
Single allele deletion Chromosome 1p36 deletion syndrome [RCV002247723] Chr1:817861..1836133 [GRCh38]
Chr1:1p36.33		 pathogenic
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 1p36.33-36.22(chr1:849466-10258804) copy number loss Chromosome 1p36 deletion syndrome, proximal [RCV002280717] Chr1:849466..10258804 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566) copy number loss Chromosome 1p36 deletion syndrome [RCV002280715] Chr1:849466..5625566 [GRCh37]
Chr1:1p36.33-36.31		 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
NM_004195.3(TNFRSF18):c.*63C>T single nucleotide variant not specified [RCV004330828] Chr1:1203781 [GRCh38]
Chr1:1139161 [GRCh37]
Chr1:1p36.33		 uncertain significance
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 1p36.33-36.32(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(chr1:1129319-1264880)x1 copy number loss not provided [RCV002474760] Chr1:1129319..1264880 [GRCh37]
Chr1:1p36.33		 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
NM_004195.3(TNFRSF18):c.82C>T (p.Pro28Ser) single nucleotide variant not specified [RCV004224570] Chr1:1206490 [GRCh38]
Chr1:1141870 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_004195.3(TNFRSF18):c.642C>T (p.Asp214=) single nucleotide variant not specified [RCV004192058] Chr1:1203928 [GRCh38]
Chr1:1139308 [GRCh37]
Chr1:1p36.33		 likely benign
NM_004195.3(TNFRSF18):c.161C>T (p.Thr54Met) single nucleotide variant not specified [RCV004235384] Chr1:1206411 [GRCh38]
Chr1:1141791 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_004195.3(TNFRSF18):c.205G>A (p.Glu69Lys) single nucleotide variant not specified [RCV004227803] Chr1:1205475 [GRCh38]
Chr1:1140855 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_004195.3(TNFRSF18):c.147C>G (p.Cys49Trp) single nucleotide variant not specified [RCV004093959] Chr1:1206425 [GRCh38]
Chr1:1141805 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_004195.3(TNFRSF18):c.*150G>C single nucleotide variant not specified [RCV004123302] Chr1:1203694 [GRCh38]
Chr1:1139074 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_004195.3(TNFRSF18):c.630G>A (p.Pro210=) single nucleotide variant not specified [RCV004183814] Chr1:1203940 [GRCh38]
Chr1:1139320 [GRCh37]
Chr1:1p36.33		 likely benign
NM_004195.3(TNFRSF18):c.26C>T (p.Ala9Val) single nucleotide variant not specified [RCV004208789] Chr1:1206546 [GRCh38]
Chr1:1141926 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_004195.3(TNFRSF18):c.*42C>A single nucleotide variant not specified [RCV004229333] Chr1:1203802 [GRCh38]
Chr1:1139182 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_004195.3(TNFRSF18):c.*182T>G single nucleotide variant not specified [RCV004110309] Chr1:1203662 [GRCh38]
Chr1:1139042 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_004195.3(TNFRSF18):c.260C>T (p.Thr87Met) single nucleotide variant not specified [RCV004069270] Chr1:1205420 [GRCh38]
Chr1:1140800 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_004195.3(TNFRSF18):c.629C>T (p.Pro210Leu) single nucleotide variant not specified [RCV004140940] Chr1:1203941 [GRCh38]
Chr1:1139321 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_004195.3(TNFRSF18):c.636C>T (p.Thr212=) single nucleotide variant not specified [RCV004108125] Chr1:1203934 [GRCh38]
Chr1:1139314 [GRCh37]
Chr1:1p36.33		 likely benign
NM_004195.3(TNFRSF18):c.*89C>T single nucleotide variant not specified [RCV004171814] Chr1:1203755 [GRCh38]
Chr1:1139135 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_004195.3(TNFRSF18):c.*24C>T single nucleotide variant not specified [RCV004222940] Chr1:1203820 [GRCh38]
Chr1:1139200 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_004195.3(TNFRSF18):c.13G>A (p.Gly5Arg) single nucleotide variant not specified [RCV004218098] Chr1:1206559 [GRCh38]
Chr1:1141939 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_004195.3(TNFRSF18):c.*74C>T single nucleotide variant not specified [RCV004218308] Chr1:1203770 [GRCh38]
Chr1:1139150 [GRCh37]
Chr1:1p36.33		 likely benign
NM_004195.3(TNFRSF18):c.122T>C (p.Leu41Pro) single nucleotide variant not specified [RCV004280424] Chr1:1206450 [GRCh38]
Chr1:1141830 [GRCh37]
Chr1:1p36.33		 uncertain significance
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_004195.3(TNFRSF18):c.256T>C (p.Cys86Arg) single nucleotide variant not specified [RCV004275875] Chr1:1205424 [GRCh38]
Chr1:1140804 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_004195.3(TNFRSF18):c.358T>C (p.Phe120Leu) single nucleotide variant not specified [RCV004268721] Chr1:1204439 [GRCh38]
Chr1:1139819 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_004195.3(TNFRSF18):c.43G>A (p.Gly15Ser) single nucleotide variant not specified [RCV004340271] Chr1:1206529 [GRCh38]
Chr1:1141909 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_004195.3(TNFRSF18):c.*143C>T single nucleotide variant not specified [RCV004357117] Chr1:1203701 [GRCh38]
Chr1:1139081 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_004195.3(TNFRSF18):c.164C>T (p.Thr55Met) single nucleotide variant not specified [RCV004345824] Chr1:1206408 [GRCh38]
Chr1:1141788 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_004195.3(TNFRSF18):c.664G>A (p.Glu222Lys) single nucleotide variant not specified [RCV004337549] Chr1:1203906 [GRCh38]
Chr1:1139286 [GRCh37]
Chr1:1p36.33		 likely benign
NM_004195.3(TNFRSF18):c.32G>A (p.Arg11Gln) single nucleotide variant not specified [RCV004361114] Chr1:1206540 [GRCh38]
Chr1:1141920 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_004195.3(TNFRSF18):c.130G>C (p.Gly44Arg) single nucleotide variant not specified [RCV004365746] Chr1:1206442 [GRCh38]
Chr1:1141822 [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
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 1p36.33-36.32(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(chr1:1138880-1647481)x3 copy number gain not provided [RCV003484002] Chr1:1138880..1647481 [GRCh37]
Chr1:1p36.33		 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 1p36.33-36.22(chr1:849467-9627901)x1 copy number loss not provided [RCV003482961] Chr1:849467..9627901 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
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
NM_004195.3(TNFRSF18):c.*8C>T single nucleotide variant not provided [RCV003412590] Chr1:1203836 [GRCh38]
Chr1:1139216 [GRCh37]
Chr1:1p36.33		 likely benign
NM_004195.3(TNFRSF18):c.189C>T (p.Gly63=) single nucleotide variant not provided [RCV003412591] Chr1:1205491 [GRCh38]
Chr1:1140871 [GRCh37]
Chr1:1p36.33		 likely benign
NM_004195.3(TNFRSF18):c.18G>A (p.Ala6=) single nucleotide variant not provided [RCV003412592] Chr1:1206554 [GRCh38]
Chr1:1141934 [GRCh37]
Chr1:1p36.33		 likely benign
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
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_004195.3(TNFRSF18):c.686C>A (p.Ser229Ter) single nucleotide variant not specified [RCV004473157] Chr1:1203884 [GRCh38]
Chr1:1139264 [GRCh37]
Chr1:1p36.33		 likely benign
NM_004195.3(TNFRSF18):c.*222C>G single nucleotide variant not specified [RCV004473160] Chr1:1203622 [GRCh38]
Chr1:1139002 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_004195.3(TNFRSF18):c.679G>A (p.Glu227Lys) single nucleotide variant not specified [RCV004473156] Chr1:1203891 [GRCh38]
Chr1:1139271 [GRCh37]
Chr1:1p36.33		 likely benign
NM_004195.3(TNFRSF18):c.97G>A (p.Gly33Arg) single nucleotide variant not specified [RCV004473161] Chr1:1206475 [GRCh38]
Chr1:1141855 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_004195.3(TNFRSF18):c.673C>T (p.Arg225Trp) single nucleotide variant not specified [RCV004473155] Chr1:1203897 [GRCh38]
Chr1:1139277 [GRCh37]
Chr1:1p36.33		 likely benign
NM_004195.3(TNFRSF18):c.62C>T (p.Ala21Val) single nucleotide variant not specified [RCV004473159] Chr1:1206510 [GRCh38]
Chr1:1141890 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_004195.3(TNFRSF18):c.380A>C (p.His127Pro) single nucleotide variant not specified [RCV004682113] Chr1:1204417 [GRCh38]
Chr1:1139797 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_004195.3(TNFRSF18):c.215G>C (p.Cys72Ser) single nucleotide variant not specified [RCV004682116] Chr1:1205465 [GRCh38]
Chr1:1140845 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_004195.3(TNFRSF18):c.31C>T (p.Arg11Trp) single nucleotide variant not specified [RCV004682114] Chr1:1206541 [GRCh38]
Chr1:1141921 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_004195.3(TNFRSF18):c.*155T>C single nucleotide variant not specified [RCV004682115] Chr1:1203689 [GRCh38]
Chr1:1139069 [GRCh37]
Chr1:1p36.33		 uncertain significance
NC_000001.10:g.(?_955553)_(1168648_?)dup duplication Combined immunodeficiency due to OX40 deficiency [RCV004584119] Chr1:955553..1168648 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_004195.3(TNFRSF18):c.112C>T (p.Arg38Cys) single nucleotide variant not specified [RCV004882805] Chr1:1206460 [GRCh38]
Chr1:1141840 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_004195.3(TNFRSF18):c.*176G>A single nucleotide variant not specified [RCV004882808] Chr1:1203668 [GRCh38]
Chr1:1139048 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_004195.3(TNFRSF18):c.*234C>T single nucleotide variant not specified [RCV004882812] Chr1:1203610 [GRCh38]
Chr1:1138990 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_004195.3(TNFRSF18):c.*192A>G single nucleotide variant not specified [RCV004882809] Chr1:1203652 [GRCh38]
Chr1:1139032 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_004195.3(TNFRSF18):c.61G>A (p.Ala21Thr) single nucleotide variant not specified [RCV004882810] Chr1:1206511 [GRCh38]
Chr1:1141891 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_004195.3(TNFRSF18):c.142C>T (p.Arg48Cys) single nucleotide variant not specified [RCV004882806] Chr1:1206430 [GRCh38]
Chr1:1141810 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_004195.3(TNFRSF18):c.50C>T (p.Ala17Val) single nucleotide variant not specified [RCV004882807] Chr1:1206522 [GRCh38]
Chr1:1141902 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_004195.3(TNFRSF18):c.682C>T (p.Arg228Ter) single nucleotide variant not specified [RCV004882811] Chr1:1203888 [GRCh38]
Chr1:1139268 [GRCh37]
Chr1:1p36.33		 likely benign
GRCh37/hg19 1p36.33-36.32(chr1:849467-3153423)x3 copy number gain not provided [RCV004819296] Chr1:849467..3153423 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1640
Count of miRNA genes:618
Interacting mature miRNAs:722
Transcripts:ENST00000328596, ENST00000379265, ENST00000379268, ENST00000486728
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298451OSTEAR17_HOsteoarthritis QTL 17 (human)2.40.0004Joint/bone inflammationosteoarthritis11125188105Human
597159746GWAS1255820_Hlipid measurement QTL GWAS1255820 (human)0.000005lipid measurementblood lipid measurement (CMO:0000050)112035331203534Human
597053441GWAS1149515_HEczematoid dermatitis QTL GWAS1149515 (human)0.0000001Eczematoid dermatitis112060071206008Human
1298463BP9_HBlood pressure QTL 9 (human)3.9Blood pressurehypertension susceptibility1125188105Human


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2395 2759 2204 4883 1712 2287 2 615 1885 456 2228 7127 6360 36 3679 1 818 1694 1562 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_004195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_148901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_148902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF117297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF241229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL162741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX781595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX781597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX781599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX781601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC152381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC152386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE244247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019532 (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
  KP067911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000328596   ⟹   ENSP00000328207
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11,203,508 - 1,206,571 (-)Ensembl
Ensembl Acc Id: ENST00000379265   ⟹   ENSP00000368567
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11,203,844 - 1,206,571 (-)Ensembl
Ensembl Acc Id: ENST00000379268   ⟹   ENSP00000368570
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11,203,508 - 1,206,592 (-)Ensembl
Ensembl Acc Id: ENST00000486728   ⟹   ENSP00000462735
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11,203,844 - 1,205,680 (-)Ensembl
RefSeq Acc Id: NM_004195   ⟹   NP_004186
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811,203,508 - 1,206,592 (-)NCBI
GRCh3711,138,888 - 1,142,163 (-)NCBI
Build 3611,128,751 - 1,131,952 (-)NCBI Archive
HuRef1410,603 - 413,804 (-)ENTREZGENE
CHM1_111,125,362 - 1,128,563 (-)NCBI
T2T-CHM13v2.01631,965 - 635,049 (-)NCBI
Sequence:
RefSeq Acc Id: NM_148901   ⟹   NP_683699
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811,203,508 - 1,206,592 (-)NCBI
GRCh3711,138,888 - 1,142,163 (-)NCBI
Build 3611,128,751 - 1,131,952 (-)NCBI Archive
HuRef1410,603 - 413,804 (-)ENTREZGENE
CHM1_111,125,362 - 1,128,563 (-)NCBI
T2T-CHM13v2.01631,965 - 635,049 (-)NCBI
Sequence:
RefSeq Acc Id: NM_148902   ⟹   NP_683700
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811,203,508 - 1,206,592 (-)NCBI
GRCh3711,138,888 - 1,142,163 (-)NCBI
Build 3611,128,751 - 1,131,952 (-)NCBI Archive
HuRef1410,603 - 413,804 (-)ENTREZGENE
CHM1_111,125,362 - 1,128,563 (-)NCBI
T2T-CHM13v2.01631,965 - 635,049 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017002722   ⟹   XP_016858211
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811,203,508 - 1,206,592 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054339419   ⟹   XP_054195394
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01631,965 - 635,049 (-)NCBI
RefSeq Acc Id: NP_683699   ⟸   NM_148901
- Peptide Label: isoform 2 precursor
- UniProtKB: Q9Y5U5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_683700   ⟸   NM_148902
- Peptide Label: isoform 3 precursor
- UniProtKB: A8WFP4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_004186   ⟸   NM_004195
- Peptide Label: isoform 1 precursor
- UniProtKB: Q5U0I4 (UniProtKB/Swiss-Prot),   O95851 (UniProtKB/Swiss-Prot),   B1AME1 (UniProtKB/Swiss-Prot),   Q9NYJ9 (UniProtKB/Swiss-Prot),   Q9Y5U5 (UniProtKB/Swiss-Prot),   A8WFP4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016858211   ⟸   XM_017002722
- Peptide Label: isoform X1
- UniProtKB: A0A0R7FDM1 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000368570   ⟸   ENST00000379268
Ensembl Acc Id: ENSP00000368567   ⟸   ENST00000379265
Ensembl Acc Id: ENSP00000328207   ⟸   ENST00000328596
Ensembl Acc Id: ENSP00000462735   ⟸   ENST00000486728
RefSeq Acc Id: XP_054195394   ⟸   XM_054339419
- Peptide Label: isoform X1
- UniProtKB: A0A0R7FDM1 (UniProtKB/TrEMBL)
Protein Domains
TNFR-Cys

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y5U5-F1-model_v2 AlphaFold Q9Y5U5 1-241 view protein structure

Promoters
RGD ID:6787035
Promoter ID:HG_KWN:129
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:UC001ADA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3611,130,551 - 1,131,402 (-)MPROMDB
RGD ID:6787034
Promoter ID:HG_KWN:130
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:NM_004195,   NM_148901,   NM_148902
Position:
Human AssemblyChrPosition (strand)Source
Build 3611,131,826 - 1,132,352 (-)MPROMDB
RGD ID:6853694
Promoter ID:EPDNEW_H11
Type:single initiation site
Name:TNFRSF18_3
Description:TNF receptor superfamily member 18
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12  EPDNEW_H13  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811,205,590 - 1,205,650EPDNEW
RGD ID:6853696
Promoter ID:EPDNEW_H12
Type:initiation region
Name:TNFRSF18_1
Description:TNF receptor superfamily member 18
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11  EPDNEW_H13  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811,206,581 - 1,206,641EPDNEW
RGD ID:6853698
Promoter ID:EPDNEW_H13
Type:initiation region
Name:TNFRSF18_2
Description:TNF receptor superfamily member 18
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11  EPDNEW_H12  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811,206,709 - 1,206,769EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11914 AgrOrtholog
COSMIC TNFRSF18 COSMIC
Ensembl Genes ENSG00000186891 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000328596 ENTREZGENE
  ENST00000328596.10 UniProtKB/Swiss-Prot
  ENST00000379265 ENTREZGENE
  ENST00000379265.5 UniProtKB/Swiss-Prot
  ENST00000379268 ENTREZGENE
  ENST00000379268.7 UniProtKB/Swiss-Prot
Gene3D-CATH Tumor Necrosis Factor Receptor, subunit A, domain 2 UniProtKB/Swiss-Prot
GTEx ENSG00000186891 GTEx
HGNC ID HGNC:11914 ENTREZGENE
Human Proteome Map TNFRSF18 Human Proteome Map
InterPro TNFR/NGFR_Cys_rich_reg UniProtKB/Swiss-Prot
  TNFR_18 UniProtKB/Swiss-Prot
  TNFRSF18 UniProtKB/Swiss-Prot
  TNFRSF18_N UniProtKB/Swiss-Prot
KEGG Report hsa:8784 UniProtKB/Swiss-Prot
NCBI Gene 8784 ENTREZGENE
OMIM 603905 OMIM
PANTHER TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY MEMBER 18 UniProtKB/Swiss-Prot
  TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY MEMBER 18 UniProtKB/Swiss-Prot
PharmGKB PA36607 PharmGKB
PRINTS TNFACTORR18 UniProtKB/Swiss-Prot
SMART TNFR UniProtKB/Swiss-Prot
UniProt A0A0R7FDM1 ENTREZGENE, UniProtKB/TrEMBL
  A8WFP4 ENTREZGENE, UniProtKB/TrEMBL
  B1AME1 ENTREZGENE
  J3KT02_HUMAN UniProtKB/TrEMBL
  O95851 ENTREZGENE
  Q5U0I4 ENTREZGENE
  Q9NYJ9 ENTREZGENE
  Q9Y5U5 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B1AME1 UniProtKB/Swiss-Prot
  O95851 UniProtKB/Swiss-Prot
  Q5U0I4 UniProtKB/Swiss-Prot
  Q9NYJ9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-30 TNFRSF18  TNF receptor superfamily member 18    tumor necrosis factor receptor superfamily member 18  Symbol and/or name change 5135510 APPROVED
2015-11-24 TNFRSF18  tumor necrosis factor receptor superfamily member 18    tumor necrosis factor receptor superfamily, member 18  Symbol and/or name change 5135510 APPROVED