RNASET2 (ribonuclease T2) - Rat Genome Database

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Gene: RNASET2 (ribonuclease T2) Homo sapiens
Analyze
Symbol: RNASET2
Name: ribonuclease T2
RGD ID: 1320518
HGNC Page HGNC:21686
Description: Enables RNA nuclease activity. Involved in RNA catabolic process. Located in endoplasmic reticulum lumen; extracellular space; and lysosome. Implicated in several diseases, including Lynch syndrome; RNASET2-deficient cystic leukoencephalopathy; colorectal cancer (multiple); lung cancer; and mismatch repair cancer syndrome. Biomarker of gastric adenocarcinoma and pulmonary neuroendocrine tumor.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: bA514O12.3; FLJ42372; ribonuclease 6; RNASE6PL; RP11-514O12.3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: LOC100130909  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386166,922,113 - 166,956,550 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6166,922,113 - 166,957,191 (-)EnsemblGRCh38hg38GRCh38
GRCh376167,335,601 - 167,370,038 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366167,262,994 - 167,290,067 (-)NCBINCBI36Build 36hg18NCBI36
Build 346167,313,416 - 167,340,488NCBI
Celera6168,084,182 - 168,111,263 (-)NCBICelera
Cytogenetic Map6q27NCBI
HuRef6164,815,617 - 164,842,699 (-)NCBIHuRef
CHM1_16167,605,634 - 167,632,656 (-)NCBICHM1_1
T2T-CHM13v2.06168,304,858 - 168,339,306 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
4,4'-sulfonyldiphenol  (EXP)
6-propyl-2-thiouracil  (ISO)
acrylamide  (EXP,ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
benzo[a]pyrene  (EXP)
beta-naphthoflavone  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chlordecone  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
copper(II) sulfate  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
deoxynivalenol  (EXP)
dibutyl phthalate  (ISO)
ethyl methanesulfonate  (EXP)
fulvestrant  (EXP)
genistein  (EXP)
gentamycin  (ISO)
glycidyl methacrylate  (EXP)
hydrogen peroxide  (EXP)
ionomycin  (EXP)
isobutanol  (EXP)
isotretinoin  (EXP)
ivermectin  (EXP)
methimazole  (ISO)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
nickel sulfate  (EXP)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
pyrrolidine dithiocarbamate  (EXP)
resveratrol  (EXP)
silicon dioxide  (ISO)
sodium arsenite  (EXP)
Soman  (ISO)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
testosterone  (EXP)
theophylline  (EXP)
thimerosal  (EXP)
titanium dioxide  (ISO)
trichloroethene  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
vitamin E  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Overexpression of Murine Rnaset2 in a Colon Syngeneic Mouse Carcinoma Model Leads to Rebalance of Intra-Tumor M1/M2 Macrophage Ratio, Activation of T Cells, Delayed Tumor Growth, and Rejection. De Vito A, etal., Cancers (Basel). 2020 Mar 18;12(3). pii: cancers12030717. doi: 10.3390/cancers12030717.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Frameshift mutational target gene analysis identifies similarities and differences in constitutional mismatch repair-deficiency and Lynch syndrome. Maletzki C, etal., Mol Carcinog. 2017 Jul;56(7):1753-1764. doi: 10.1002/mc.22632. Epub 2017 Mar 30.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. ABHD5 blunts the sensitivity of colorectal cancer to fluorouracil via promoting autophagic uracil yield. Ou J, etal., Nat Commun. 2019 Mar 6;10(1):1078. doi: 10.1038/s41467-019-08902-x.
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
9. Human recombinant RNASET2: A potential anti-cancer drug. Roiz L, etal., Oncoscience. 2016 Mar 4;3(2):71-84. doi: 10.18632/oncoscience.295. eCollection 2016.
10. New insights into hypoxia-related mechanisms involved in different microvascular patterns of bronchopulmonary carcinoids and poorly differentiated neuroendocrine carcinomas. Role of ribonuclease T2 (RNASET2) and HIF-1α. Uccella S, etal., Hum Pathol. 2018 Sep;79:66-76. doi: 10.1016/j.humpath.2018.04.028. Epub 2018 May 12.
11. Integrating expression-related SNPs into genome-wide gene- and pathway-based analyses identified novel lung cancer susceptibility genes. Wang Y, etal., Int J Cancer. 2018 Apr 15;142(8):1602-1610. doi: 10.1002/ijc.31182. Epub 2017 Dec 12.
12. Expression, Location, Clinical Implication, and Bioinformatics Analysis of RNASET2 in Gastric Adenocarcinoma. Zeng Z, etal., Front Oncol. 2020 May 22;10:836. doi: 10.3389/fonc.2020.00836. eCollection 2020.
Additional References at PubMed
PMID:9192857   PMID:11314033   PMID:11821951   PMID:12477932   PMID:14574404   PMID:14702039   PMID:15489334   PMID:15809705   PMID:16502470   PMID:16620762   PMID:16712791   PMID:18543608  
PMID:19382914   PMID:19525954   PMID:20526339   PMID:20601676   PMID:21199949   PMID:21446958   PMID:21646684   PMID:21841780   PMID:21873635   PMID:21994792   PMID:22188480   PMID:22268729  
PMID:22732457   PMID:22735700   PMID:22939629   PMID:23128233   PMID:23258633   PMID:23376485   PMID:23533145   PMID:23630276   PMID:23850713   PMID:24096698   PMID:24327149   PMID:24457966  
PMID:24501781   PMID:24556642   PMID:24842157   PMID:25426551   PMID:25663099   PMID:25797262   PMID:25928629   PMID:26067323   PMID:26186194   PMID:26293343   PMID:26344197   PMID:28400196  
PMID:28514442   PMID:28568286   PMID:28730546   PMID:29117863   PMID:29581387   PMID:30218741   PMID:30385512   PMID:31586073   PMID:31778653   PMID:32294405   PMID:32295832   PMID:33001583  
PMID:33767133   PMID:33961781   PMID:34299186   PMID:36012339   PMID:36054934   PMID:36180758   PMID:36466822   PMID:36728187   PMID:37679715  


Genomics

Comparative Map Data
RNASET2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386166,922,113 - 166,956,550 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6166,922,113 - 166,957,191 (-)EnsemblGRCh38hg38GRCh38
GRCh376167,335,601 - 167,370,038 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366167,262,994 - 167,290,067 (-)NCBINCBI36Build 36hg18NCBI36
Build 346167,313,416 - 167,340,488NCBI
Celera6168,084,182 - 168,111,263 (-)NCBICelera
Cytogenetic Map6q27NCBI
HuRef6164,815,617 - 164,842,699 (-)NCBIHuRef
CHM1_16167,605,634 - 167,632,656 (-)NCBICHM1_1
T2T-CHM13v2.06168,304,858 - 168,339,306 (-)NCBIT2T-CHM13v2.0
Rnaset2a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39178,347,412 - 8,367,078 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl178,334,277 - 8,366,929 (-)EnsemblGRCm39 Ensembl
GRCm38178,128,580 - 8,148,246 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl178,115,445 - 8,148,097 (-)EnsemblGRCm38mm10GRCm38
GRCm38.p6 Ensembl176,970,634 - 7,011,299 (+)EnsemblGRCm38mm10GRCm38
MGSCv37178,321,463 - 8,340,653 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36178,320,941 - 8,340,962NCBIMGSCv36mm8
Cytogenetic Map17A1NCBI
cM Map174.87NCBI
Rnaset2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8155,133,532 - 55,150,701 (+)NCBIGRCr8
mRatBN7.2152,576,344 - 52,603,151 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl152,585,929 - 52,603,147 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx153,293,564 - 53,310,743 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0159,279,147 - 59,296,316 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0153,369,172 - 53,386,351 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0153,174,879 - 53,192,048 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl153,174,879 - 53,192,048 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0154,425,133 - 54,442,302 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4147,227,491 - 47,244,660 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1147,229,790 - 47,247,605 (+)NCBI
Celera148,348,850 - 48,366,056 (+)NCBICelera
Cytogenetic Map1q12NCBI
Rnaset2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543915,098,114 - 15,125,413 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543915,098,210 - 15,122,015 (+)NCBIChiLan1.0ChiLan1.0
RNASET2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v25187,136,419 - 187,164,642 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan16185,032,560 - 185,060,195 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v06164,895,396 - 164,923,008 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.16169,872,780 - 169,899,599 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6169,872,780 - 169,899,599 (-)Ensemblpanpan1.1panPan2
RNASET2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1154,779,453 - 54,820,697 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha155,569,589 - 55,610,750 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0154,960,522 - 55,001,716 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl154,951,257 - 55,001,687 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1154,857,510 - 54,898,703 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0154,706,105 - 54,747,457 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0155,331,031 - 55,372,416 (-)NCBIUU_Cfam_GSD_1.0
Rnaset2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404946149,288,114 - 149,304,873 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648916,540,562 - 16,555,670 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648916,540,558 - 16,555,669 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RNASET2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.112,146,707 - 2,164,768 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213,289,720 - 3,307,697 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RNASET2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11394,670,376 - 94,702,585 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1394,668,580 - 94,702,587 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604066,485,168 - 66,512,964 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rnaset2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462478512,383,709 - 12,409,069 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RNASET2
139 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003730.6(RNASET2):c.550T>C (p.Cys184Arg) single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV000000440] Chr6:166931061 [GRCh38]
Chr6:167344549 [GRCh37]
Chr6:6q27		 pathogenic
NM_003730.6(RNASET2):c.87-1341_147+1181del deletion Cystic leukoencephalopathy without megalencephaly [RCV000000441] Chr6:166951307..166953889 [GRCh38]
Chr6:167364795..167367377 [GRCh37]
Chr6:6q27		 pathogenic
NM_003730.6(RNASET2):c.262-2A>G single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV000000442] Chr6:166943091 [GRCh38]
Chr6:167356579 [GRCh37]
Chr6:6q27		 pathogenic
NM_003730.6(RNASET2):c.332+1del deletion Cystic leukoencephalopathy without megalencephaly [RCV000000443] Chr6:166943018 [GRCh38]
Chr6:167356506 [GRCh37]
Chr6:6q27		 pathogenic
NM_003730.6(RNASET2):c.50_64del (p.Ala17_Leu21del) deletion Cystic leukoencephalopathy without megalencephaly [RCV000000444] Chr6:166956119..166956133 [GRCh38]
Chr6:167369607..167369621 [GRCh37]
Chr6:6q27		 pathogenic
NM_003730.6(RNASET2):c.567G>A (p.Gln189=) single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV000000445] Chr6:166931044 [GRCh38]
Chr6:167344532 [GRCh37]
Chr6:6q27		 pathogenic|uncertain significance
GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3 copy number gain See cases [RCV000050604] Chr6:141132990..169339571 [GRCh38]
Chr6:141454127..169739666 [GRCh37]
Chr6:141495820..169481591 [NCBI36]
Chr6:6q24.1-27		 pathogenic
GRCh38/hg38 6q25.2-27(chr6:152376338-170583214)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]|See cases [RCV000051902] Chr6:152376338..170583214 [GRCh38]
Chr6:152697473..170892302 [GRCh37]
Chr6:152739166..170734227 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:158664768-170612001)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051904]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051904]|See cases [RCV000051904] Chr6:158664768..170612001 [GRCh38]
Chr6:159085800..170921089 [GRCh37]
Chr6:159005788..170763014 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1 copy number loss See cases [RCV000052207] Chr6:154118058..170602152 [GRCh38]
Chr6:154439193..170911240 [GRCh37]
Chr6:154480885..170753165 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1 copy number loss See cases [RCV000052209] Chr6:159454639..170612001 [GRCh38]
Chr6:159875671..170921089 [GRCh37]
Chr6:159795661..170763014 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1 copy number loss See cases [RCV000052211] Chr6:159825913..170612001 [GRCh38]
Chr6:160246945..170921089 [GRCh37]
Chr6:160166935..170763014 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:160328288-170612001)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052212]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052212]|See cases [RCV000052212] Chr6:160328288..170612001 [GRCh38]
Chr6:160749320..170921089 [GRCh37]
Chr6:160669310..170763014 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:160359686-170608818)x1 copy number loss See cases [RCV000052213] Chr6:160359686..170608818 [GRCh38]
Chr6:160780718..170917906 [GRCh37]
Chr6:160700708..170759831 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:160422761-170612001)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052214]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052214]|See cases [RCV000052214] Chr6:160422761..170612001 [GRCh38]
Chr6:160843793..170921089 [GRCh37]
Chr6:160763783..170763014 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q26-27(chr6:161205328-170581161)x1 copy number loss See cases [RCV000052215] Chr6:161205328..170581161 [GRCh38]
Chr6:161626360..170890249 [GRCh37]
Chr6:161546350..170732174 [NCBI36]
Chr6:6q26-27		 pathogenic
GRCh38/hg38 6q26-27(chr6:162042846-170608818)x1 copy number loss See cases [RCV000052223] Chr6:162042846..170608818 [GRCh38]
Chr6:162463878..170917906 [GRCh37]
Chr6:162383868..170759831 [NCBI36]
Chr6:6q26-27		 pathogenic
GRCh38/hg38 6q26-27(chr6:162789915-170602152)x1 copy number loss See cases [RCV000052224] Chr6:162789915..170602152 [GRCh38]
Chr6:163210947..170911240 [GRCh37]
Chr6:163130937..170753165 [NCBI36]
Chr6:6q26-27		 pathogenic
GRCh38/hg38 6q26-27(chr6:163420224-170608818)x1 copy number loss See cases [RCV000052225] Chr6:163420224..170608818 [GRCh38]
Chr6:163841256..170917906 [GRCh37]
Chr6:163761246..170759831 [NCBI36]
Chr6:6q26-27		 pathogenic
GRCh38/hg38 6q27(chr6:165126489-170581161)x1 copy number loss See cases [RCV000052226] Chr6:165126489..170581161 [GRCh38]
Chr6:165539978..170890249 [GRCh37]
Chr6:165459968..170732174 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q27(chr6:166370159-170602152)x1 copy number loss See cases [RCV000052227] Chr6:166370159..170602152 [GRCh38]
Chr6:166783647..170911240 [GRCh37]
Chr6:166703637..170753165 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q27(chr6:166907168-167368489)x3 copy number gain See cases [RCV000053393] Chr6:166907168..167368489 [GRCh38]
Chr6:167320656..167781977 [GRCh37]
Chr6:167240646..167701967 [NCBI36]
Chr6:6q27		 uncertain significance
GRCh37/hg19 6q26-27(chr6:162865436-170901287)x3 copy number gain See cases [RCV000184080] Chr6:162865436..170901287 [GRCh37]
Chr6:6q26-27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:160484810-170612011)x1 copy number loss See cases [RCV000134021] Chr6:160484810..170612011 [GRCh38]
Chr6:160905842..170921099 [GRCh37]
Chr6:160825832..170763024 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q27(chr6:164790270-170612001)x1 copy number loss See cases [RCV000135415] Chr6:164790270..170612001 [GRCh38]
Chr6:165203779..170921089 [GRCh37]
Chr6:165123769..170763014 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1 copy number loss See cases [RCV000137381] Chr6:154539655..170714507 [GRCh38]
Chr6:154860789..171023595 [GRCh37]
Chr6:154902481..170865520 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1 copy number loss See cases [RCV000139636] Chr6:159915390..170714507 [GRCh38]
Chr6:160336422..171023595 [GRCh37]
Chr6:160256412..170865520 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1 copy number loss See cases [RCV000141880] Chr6:152793402..170610394 [GRCh38]
Chr6:153114537..170919482 [GRCh37]
Chr6:153156230..170761407 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3 copy number gain See cases [RCV000142594] Chr6:152376338..170612001 [GRCh38]
Chr6:152697473..170921089 [GRCh37]
Chr6:152739166..170763014 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q26-27(chr6:160899898-170610394)x1 copy number loss See cases [RCV000143619] Chr6:160899898..170610394 [GRCh38]
Chr6:161320930..170919482 [GRCh37]
Chr6:161240920..170761407 [NCBI36]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3 copy number gain See cases [RCV000449011] Chr6:151214792..170892243 [GRCh37]
Chr6:6q25.1-27		 pathogenic
GRCh37/hg19 6q27(chr6:165443824-170892302)x1 copy number loss See cases [RCV000239993] Chr6:165443824..170892302 [GRCh37]
Chr6:6q27		 pathogenic
NM_003730.6(RNASET2):c.21C>T (p.Arg7=) single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV000282275]|not provided [RCV001517055] Chr6:166956162 [GRCh38]
Chr6:167369650 [GRCh37]
Chr6:6q27		 benign|likely benign
NM_003730.6(RNASET2):c.516T>C (p.Leu172=) single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV000273891]|not provided [RCV001509842] Chr6:166931095 [GRCh38]
Chr6:167344583 [GRCh37]
Chr6:6q27		 benign
NM_003730.6(RNASET2):c.648G>A (p.Pro216=) single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV000269870]|not provided [RCV001514238] Chr6:166929711 [GRCh38]
Chr6:167343199 [GRCh37]
Chr6:6q27		 benign|likely benign
NM_003730.6(RNASET2):c.-251G>C single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV000314548] Chr6:166956433 [GRCh38]
Chr6:167369921 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.16C>T (p.Leu6=) single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV000320929]|not provided [RCV001518666] Chr6:166956167 [GRCh38]
Chr6:167369655 [GRCh37]
Chr6:6q27		 benign|likely benign
NM_003730.6(RNASET2):c.-203G>A single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV000368868] Chr6:166956385 [GRCh38]
Chr6:167369873 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.741C>A (p.Phe247Leu) single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV000400857]|not provided [RCV000892106] Chr6:166929618 [GRCh38]
Chr6:167343106 [GRCh37]
Chr6:6q27		 likely benign|uncertain significance
NM_003730.4(RNASET2):c.-392G>C single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV000357502] Chr6:166956574 [GRCh38]
Chr6:167370062 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.706C>T (p.Arg236Trp) single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV000305139]|not provided [RCV001515723] Chr6:166929653 [GRCh38]
Chr6:167343141 [GRCh37]
Chr6:6q27		 benign|likely benign|conflicting interpretations of pathogenicity
NM_003730.6(RNASET2):c.-321G>T single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV000352982] Chr6:166956503 [GRCh38]
Chr6:167369991 [GRCh37]
Chr6:6q27		 benign|likely benign
NM_003730.6(RNASET2):c.380C>T (p.Ala127Val) single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV000331283] Chr6:166938961 [GRCh38]
Chr6:167352449 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.-227G>T single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV000402342] Chr6:166956409 [GRCh38]
Chr6:167369897 [GRCh37]
Chr6:6q27		 benign
NM_003730.6(RNASET2):c.652G>A (p.Glu218Lys) single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV000362169]|not provided [RCV003574759] Chr6:166929707 [GRCh38]
Chr6:167343195 [GRCh37]
Chr6:6q27		 likely benign|uncertain significance
NM_003730.6(RNASET2):c.-322T>C single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV000260374] Chr6:166956504 [GRCh38]
Chr6:167369992 [GRCh37]
Chr6:6q27		 benign
NM_003730.6(RNASET2):c.325C>A (p.Arg109Ser) single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV000277212] Chr6:166943026 [GRCh38]
Chr6:167356514 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.534G>A (p.Val178=) single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV000366135]|not provided [RCV002058577] Chr6:166931077 [GRCh38]
Chr6:167344565 [GRCh37]
Chr6:6q27		 likely benign|uncertain significance
NM_003730.6(RNASET2):c.643G>A (p.Glu215Lys) single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV000309087]|RNASET2-related condition [RCV003912521]|not provided [RCV000439457] Chr6:166929716 [GRCh38]
Chr6:167343204 [GRCh37]
Chr6:6q27		 benign|likely benign|uncertain significance
NM_003730.6(RNASET2):c.360C>A (p.Thr120=) single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV000369431]|not provided [RCV002523561] Chr6:166938981 [GRCh38]
Chr6:167352469 [GRCh37]
Chr6:6q27		 likely benign|uncertain significance
NM_003730.4(RNASET2):c.-396T>C single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV000264966] Chr6:166956578 [GRCh38]
Chr6:167370066 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.147+3G>A single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV000372996]|not provided [RCV000960564] Chr6:166952485 [GRCh38]
Chr6:167365973 [GRCh37]
Chr6:6q27		 benign|likely benign
NM_003730.6(RNASET2):c.261+3_261+5dup duplication not provided [RCV000585362] Chr6:166946676..166946677 [GRCh38]
Chr6:167360164..167360165 [GRCh37]
Chr6:6q27		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003730.6(RNASET2):c.224G>A (p.Cys75Tyr) single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV000315978] Chr6:166946719 [GRCh38]
Chr6:167360207 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.-114G>C single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV000346705] Chr6:166956296 [GRCh38]
Chr6:167369784 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.4(RNASET2):c.-384G>A single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV000317972] Chr6:166956566 [GRCh38]
Chr6:167370054 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.-14C>A single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV000285738] Chr6:166956196 [GRCh38]
Chr6:167369684 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.-183del deletion Cystic leukoencephalopathy without megalencephaly [RCV000311840] Chr6:166956365 [GRCh38]
Chr6:167369853 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.-104G>T single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV000289439] Chr6:166956286 [GRCh38]
Chr6:167369774 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.-77del deletion Cystic leukoencephalopathy without megalencephaly [RCV000395928] Chr6:166956259 [GRCh38]
Chr6:167369747 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.-32A>G single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV000343241] Chr6:166956214 [GRCh38]
Chr6:167369702 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.-3_6del (p.Met1_Arg2del) deletion Cystic leukoencephalopathy without megalencephaly [RCV000377846] Chr6:166956177..166956185 [GRCh38]
Chr6:167369665..167369673 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.-176C>T single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV000398539] Chr6:166956358 [GRCh38]
Chr6:167369846 [GRCh37]
Chr6:6q27		 uncertain significance
GRCh37/hg19 6q26-27(chr6:162381975-170919482)x1 copy number loss See cases [RCV000449121] Chr6:162381975..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6q27(chr6:167194654-167416922)x1 copy number loss See cases [RCV000445795] Chr6:167194654..167416922 [GRCh37]
Chr6:6q27		 uncertain significance
GRCh37/hg19 6q26-27(chr6:164361517-170919482)x1 copy number loss See cases [RCV000446024] Chr6:164361517..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_003730.6(RNASET2):c.710dup (p.Leu238fs) duplication Cystic leukoencephalopathy without megalencephaly [RCV000501289] Chr6:166929648..166929649 [GRCh38]
Chr6:167343136..167343137 [GRCh37]
Chr6:6q27		 likely pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6q27(chr6:166110423-170919482)x1 copy number loss See cases [RCV000510607] Chr6:166110423..170919482 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q26-27(chr6:164276935-170919482)x1 copy number loss See cases [RCV000511755] Chr6:164276935..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
Single allele deletion not provided [RCV000768451] Chr6:162966301..170914973 [GRCh37]
Chr6:6q26-27		 likely pathogenic
NM_003730.6(RNASET2):c.446+131G>A single nucleotide variant not provided [RCV003312669] Chr6:166938764 [GRCh38]
Chr6:167352252 [GRCh37]
Chr6:6q27		 likely benign
GRCh37/hg19 6q25.3-27(chr6:159006336-170713678)x3 copy number gain not provided [RCV003312672] Chr6:159006336..170713678 [GRCh37]
Chr6:6q25.3-27		 uncertain significance
GRCh37/hg19 6q27(chr6:167360170-167362113)x0 copy number loss not provided [RCV000659191] Chr6:167360170..167362113 [GRCh37]
Chr6:6q27		 likely pathogenic
GRCh37/hg19 6q25.3-27(chr6:159844762-170919482)x3 copy number gain not provided [RCV000682734] Chr6:159844762..170919482 [GRCh37]
Chr6:6q25.3-27		 pathogenic
GRCh37/hg19 6q27(chr6:165190527-170919482)x1 copy number loss not provided [RCV000682744] Chr6:165190527..170919482 [GRCh37]
Chr6:6q27		 pathogenic
46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn complex Coffin-Siris syndrome 1 [RCV000714957] Chr6:151443333..171115067 [GRCh37]
Chr6:6q25.1-27		 pathogenic
GRCh37/hg19 6q27(chr6:167167381-167433823)x1 copy number loss not provided [RCV000682746] Chr6:167167381..167433823 [GRCh37]
Chr6:6q27		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6q25.1-27(chr6:150284435-170919470)x3 copy number gain not provided [RCV000746100] Chr6:150284435..170919470 [GRCh37]
Chr6:6q25.1-27		 pathogenic
GRCh37/hg19 6q25.3-27(chr6:159155998-171054786)x3 copy number gain not provided [RCV000746132] Chr6:159155998..171054786 [GRCh37]
Chr6:6q25.3-27		 pathogenic
GRCh37/hg19 6q27(chr6:165989942-171054786)x1 copy number loss not provided [RCV000746208] Chr6:165989942..171054786 [GRCh37]
Chr6:6q27		 pathogenic
NM_003730.6(RNASET2):c.660G>T (p.Pro220=) single nucleotide variant not provided [RCV000928042] Chr6:166929699 [GRCh38]
Chr6:167343187 [GRCh37]
Chr6:6q27		 likely benign
NM_003730.6(RNASET2):c.662C>A (p.Ser221Tyr) single nucleotide variant not provided [RCV000884362] Chr6:166929697 [GRCh38]
Chr6:167343185 [GRCh37]
Chr6:6q27		 likely benign
NM_003730.6(RNASET2):c.660G>A (p.Pro220=) single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV001157009]|not provided [RCV000968845] Chr6:166929699 [GRCh38]
Chr6:167343187 [GRCh37]
Chr6:6q27		 likely benign|uncertain significance
NM_003730.6(RNASET2):c.214A>G (p.Ser72Gly) single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV001154608]|RNASET2-related condition [RCV003926127]|not provided [RCV000960534] Chr6:166946729 [GRCh38]
Chr6:167360217 [GRCh37]
Chr6:6q27		 benign|likely benign
NM_003730.6(RNASET2):c.195T>C (p.His65=) single nucleotide variant not provided [RCV000922601] Chr6:166948578 [GRCh38]
Chr6:167362066 [GRCh37]
Chr6:6q27		 likely benign
GRCh37/hg19 6q27(chr6:166517762-170919470) copy number loss not provided [RCV000767664] Chr6:166517762..170919470 [GRCh37]
Chr6:6q27		 pathogenic
NM_003730.6(RNASET2):c.426C>T (p.Tyr142=) single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV001151597]|RNASET2-related condition [RCV003960754]|not provided [RCV000964178] Chr6:166938915 [GRCh38]
Chr6:167352403 [GRCh37]
Chr6:6q27		 benign
NM_003730.6(RNASET2):c.207C>T (p.Pro69=) single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV001154609]|not provided [RCV000960641] Chr6:166946736 [GRCh38]
Chr6:167360224 [GRCh37]
Chr6:6q27		 likely benign|uncertain significance
NM_003730.6(RNASET2):c.366C>T (p.Ala122=) single nucleotide variant not provided [RCV000922526] Chr6:166938975 [GRCh38]
Chr6:167352463 [GRCh37]
Chr6:6q27		 likely benign
NM_003730.6(RNASET2):c.381G>A (p.Ala127=) single nucleotide variant RNASET2-related condition [RCV003933105]|not provided [RCV000921842] Chr6:166938960 [GRCh38]
Chr6:167352448 [GRCh37]
Chr6:6q27		 likely benign
GRCh37/hg19 6q26-27(chr6:162661108-170919482)x1 copy number loss not provided [RCV001005878] Chr6:162661108..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6q26-27(chr6:162452035-170919482)x1 copy number loss not provided [RCV001005874] Chr6:162452035..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
NM_003730.6(RNASET2):c.82C>T (p.Leu28=) single nucleotide variant not provided [RCV000980627] Chr6:166956101 [GRCh38]
Chr6:167369589 [GRCh37]
Chr6:6q27		 likely benign
NM_003730.6(RNASET2):c.568-4T>C single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV001151595] Chr6:166929795 [GRCh38]
Chr6:167343283 [GRCh37]
Chr6:6q27		 uncertain significance
GRCh37/hg19 6q27(chr6:166607593-170919482)x1 copy number loss not provided [RCV000846415] Chr6:166607593..170919482 [GRCh37]
Chr6:6q27		 pathogenic
NM_003730.6(RNASET2):c.22G>A (p.Gly8Arg) single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV001095751] Chr6:166956161 [GRCh38]
Chr6:167369649 [GRCh37]
Chr6:6q27		 uncertain significance
NC_000006.11:g.(?_167343076)_(167453466_?)del deletion not provided [RCV003107732] Chr6:167343076..167453466 [GRCh37]
Chr6:6q27		 pathogenic
NC_000006.11:g.(?_167369565)_(167369670_?)dup duplication not provided [RCV003107733] Chr6:167369565..167369670 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.201A>G (p.Leu67=) single nucleotide variant not provided [RCV000883508] Chr6:166948572 [GRCh38]
Chr6:167362060 [GRCh37]
Chr6:6q27		 likely benign
NM_003730.6(RNASET2):c.510T>C (p.Asp170=) single nucleotide variant not provided [RCV000980818] Chr6:166931101 [GRCh38]
Chr6:167344589 [GRCh37]
Chr6:6q27		 likely benign
NM_003730.6(RNASET2):c.707G>A (p.Arg236Gln) single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV001157007]|RNASET2-related condition [RCV003920724]|not provided [RCV000888819] Chr6:166929652 [GRCh38]
Chr6:167343140 [GRCh37]
Chr6:6q27		 benign|likely benign
NM_003730.6(RNASET2):c.696C>T (p.Ala232=) single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV001157008]|not provided [RCV000910736] Chr6:166929663 [GRCh38]
Chr6:167343151 [GRCh37]
Chr6:6q27		 benign|likely benign
NM_003730.6(RNASET2):c.697G>A (p.Ala233Thr) single nucleotide variant RNASET2-related condition [RCV003903291]|not provided [RCV000956442] Chr6:166929662 [GRCh38]
Chr6:167343150 [GRCh37]
Chr6:6q27		 benign
NM_003730.6(RNASET2):c.765G>A (p.Lys255=) single nucleotide variant RNASET2-related condition [RCV003960509]|not provided [RCV000935020] Chr6:166929594 [GRCh38]
Chr6:167343082 [GRCh37]
Chr6:6q27		 likely benign
NM_003730.6(RNASET2):c.-72C>G single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV001155448] Chr6:166956254 [GRCh38]
Chr6:167369742 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.-155C>T single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV001155449] Chr6:166956337 [GRCh38]
Chr6:167369825 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.748C>T (p.Pro250Ser) single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV001004878] Chr6:166929611 [GRCh38]
Chr6:167343099 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.-69C>T single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV001155447] Chr6:166956251 [GRCh38]
Chr6:167369739 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.563G>T (p.Ser188Ile) single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV001151596] Chr6:166931048 [GRCh38]
Chr6:167344536 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.648G>C (p.Pro216=) single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV001157010]|not provided [RCV002070931] Chr6:166929711 [GRCh38]
Chr6:167343199 [GRCh37]
Chr6:6q27		 likely benign|uncertain significance
NM_003730.6(RNASET2):c.-221G>A single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV001157124] Chr6:166956403 [GRCh38]
Chr6:167369891 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.204-14A>G single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV001196498] Chr6:166946753 [GRCh38]
Chr6:167360241 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.131C>T (p.Pro44Leu) single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV001196499]|Inborn genetic diseases [RCV003346352]|not provided [RCV001876274] Chr6:166952504 [GRCh38]
Chr6:167365992 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.233C>A (p.Ser78Ter) single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV001254880] Chr6:166946710 [GRCh38]
Chr6:167360198 [GRCh37]
Chr6:6q27		 pathogenic|uncertain significance
GRCh37/hg19 6q27(chr6:166083476-170919482)x3 copy number gain not provided [RCV001258773] Chr6:166083476..170919482 [GRCh37]
Chr6:6q27		 likely pathogenic
NM_003730.6(RNASET2):c.610A>G (p.Thr204Ala) single nucleotide variant Inborn genetic diseases [RCV002547003]|not provided [RCV001344128] Chr6:166929749 [GRCh38]
Chr6:167343237 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.148-1G>T single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV001420593] Chr6:166948626 [GRCh38]
Chr6:167362114 [GRCh37]
Chr6:6q27		 likely pathogenic
NC_000006.11:g.(?_167356507)_(167369670_?)del deletion not provided [RCV001383553] Chr6:167356507..167369670 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q27(chr6:167263995-167774832)x3 copy number gain not provided [RCV001834343] Chr6:167263995..167774832 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.261+17A>G single nucleotide variant not provided [RCV002104399] Chr6:166946665 [GRCh38]
Chr6:167360153 [GRCh37]
Chr6:6q27		 benign|likely benign
NM_003730.6(RNASET2):c.680G>C (p.Trp227Ser) single nucleotide variant not provided [RCV002045028] Chr6:166929679 [GRCh38]
Chr6:167343167 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.763_*4del (p.Lys255fs) deletion not provided [RCV001894507] Chr6:166929584..166929596 [GRCh38]
Chr6:167343072..167343084 [GRCh37]
Chr6:6q27		 uncertain significance
GRCh37/hg19 6q26-27(chr6:161047873-170919482) copy number loss not specified [RCV002053651] Chr6:161047873..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6q27(chr6:167317903-170919482) copy number loss not specified [RCV002053659] Chr6:167317903..170919482 [GRCh37]
Chr6:6q27		 pathogenic
NM_003730.6(RNASET2):c.647C>G (p.Pro216Arg) single nucleotide variant not provided [RCV001913737] Chr6:166929712 [GRCh38]
Chr6:167343200 [GRCh37]
Chr6:6q27		 uncertain significance
GRCh37/hg19 6q26-27(chr6:162212864-170919482) copy number gain not specified [RCV002053652] Chr6:162212864..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6q26-27(chr6:162381975-170919482) copy number loss not specified [RCV002053653] Chr6:162381975..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6q26-27(chr6:163290087-170919482) copy number loss not specified [RCV002053655] Chr6:163290087..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
NM_003730.6(RNASET2):c.44G>A (p.Cys15Tyr) single nucleotide variant not provided [RCV001908887] Chr6:166956139 [GRCh38]
Chr6:167369627 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.751C>T (p.Pro251Ser) single nucleotide variant not provided [RCV001998285] Chr6:166929608 [GRCh38]
Chr6:167343096 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.601C>G (p.Leu201Val) single nucleotide variant not provided [RCV001904254] Chr6:166929758 [GRCh38]
Chr6:167343246 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.346G>A (p.Glu116Lys) single nucleotide variant not provided [RCV001877121] Chr6:166938995 [GRCh38]
Chr6:167352483 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.147+20C>T single nucleotide variant not provided [RCV002129415] Chr6:166952468 [GRCh38]
Chr6:167365956 [GRCh37]
Chr6:6q27		 benign
NM_003730.6(RNASET2):c.568-17T>C single nucleotide variant not provided [RCV002146734] Chr6:166929808 [GRCh38]
Chr6:167343296 [GRCh37]
Chr6:6q27		 benign
NM_003730.6(RNASET2):c.446+19C>T single nucleotide variant not provided [RCV002085706] Chr6:166938876 [GRCh38]
Chr6:167352364 [GRCh37]
Chr6:6q27		 likely benign
NM_003730.6(RNASET2):c.446+12C>T single nucleotide variant not provided [RCV002084660] Chr6:166938883 [GRCh38]
Chr6:167352371 [GRCh37]
Chr6:6q27		 likely benign
NM_003730.6(RNASET2):c.735A>T (p.Pro245=) single nucleotide variant not provided [RCV002205323] Chr6:166929624 [GRCh38]
Chr6:167343112 [GRCh37]
Chr6:6q27		 likely benign
NM_003730.6(RNASET2):c.642C>T (p.Thr214=) single nucleotide variant not provided [RCV002105664] Chr6:166929717 [GRCh38]
Chr6:167343205 [GRCh37]
Chr6:6q27		 likely benign
NM_003730.6(RNASET2):c.147+7_147+8del microsatellite not provided [RCV002196682] Chr6:166952480..166952481 [GRCh38]
Chr6:167365968..167365969 [GRCh37]
Chr6:6q27		 likely benign
NM_003730.6(RNASET2):c.147+12T>C single nucleotide variant not provided [RCV002079597] Chr6:166952476 [GRCh38]
Chr6:167365964 [GRCh37]
Chr6:6q27		 benign
NM_003730.6(RNASET2):c.24G>A (p.Gly8=) single nucleotide variant not provided [RCV002215619] Chr6:166956159 [GRCh38]
Chr6:167369647 [GRCh37]
Chr6:6q27		 likely benign
NM_003730.6(RNASET2):c.493-14G>A single nucleotide variant not provided [RCV002150989] Chr6:166931132 [GRCh38]
Chr6:167344620 [GRCh37]
Chr6:6q27		 likely benign
NM_003730.6(RNASET2):c.446+17C>A single nucleotide variant not provided [RCV002124645] Chr6:166938878 [GRCh38]
Chr6:167352366 [GRCh37]
Chr6:6q27		 benign
NM_003730.6(RNASET2):c.567+12dup duplication not provided [RCV002079810] Chr6:166931031..166931032 [GRCh38]
Chr6:167344519..167344520 [GRCh37]
Chr6:6q27		 likely benign
NM_003730.6(RNASET2):c.81C>G (p.Arg27=) single nucleotide variant not provided [RCV002100101] Chr6:166956102 [GRCh38]
Chr6:167369590 [GRCh37]
Chr6:6q27		 likely benign
NM_003730.6(RNASET2):c.297C>T (p.Asp99=) single nucleotide variant not provided [RCV002175514] Chr6:166943054 [GRCh38]
Chr6:167356542 [GRCh37]
Chr6:6q27		 likely benign
NM_003730.6(RNASET2):c.148-20T>A single nucleotide variant not provided [RCV002118177] Chr6:166948645 [GRCh38]
Chr6:167362133 [GRCh37]
Chr6:6q27		 benign
NM_003730.6(RNASET2):c.447-14A>T single nucleotide variant not provided [RCV002199020] Chr6:166934150 [GRCh38]
Chr6:167347638 [GRCh37]
Chr6:6q27		 likely benign
NM_003730.6(RNASET2):c.568-20C>A single nucleotide variant not provided [RCV002102009] Chr6:166929811 [GRCh38]
Chr6:167343299 [GRCh37]
Chr6:6q27		 benign
NM_003730.6(RNASET2):c.261+14A>T single nucleotide variant not provided [RCV002156475] Chr6:166946668 [GRCh38]
Chr6:167360156 [GRCh37]
Chr6:6q27		 likely benign
NM_003730.6(RNASET2):c.320G>A (p.Arg107His) single nucleotide variant Inborn genetic diseases [RCV003007125]|not provided [RCV002122376] Chr6:166943031 [GRCh38]
Chr6:167356519 [GRCh37]
Chr6:6q27		 likely benign|uncertain significance
NM_003730.6(RNASET2):c.309G>A (p.Ser103=) single nucleotide variant not provided [RCV002218090] Chr6:166943042 [GRCh38]
Chr6:167356530 [GRCh37]
Chr6:6q27		 likely benign
NM_003730.6(RNASET2):c.446+8C>T single nucleotide variant not provided [RCV003112710] Chr6:166938887 [GRCh38]
Chr6:167352375 [GRCh37]
Chr6:6q27		 likely benign
NM_003730.6(RNASET2):c.502T>C (p.Phe168Leu) single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV003130414] Chr6:166931109 [GRCh38]
Chr6:167344597 [GRCh37]
Chr6:6q27		 uncertain significance
GRCh37/hg19 6q26-27(chr6:163836226-170893669)x1 copy number loss not provided [RCV002293168] Chr6:163836226..170893669 [GRCh37]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6q25.3-27(chr6:159121459-170919482) copy number loss Hydrocephalus [RCV002280751] Chr6:159121459..170919482 [GRCh37]
Chr6:6q25.3-27		 pathogenic
GRCh37/hg19 6q26-27(chr6:163181847-170919482)x1 copy number loss not provided [RCV002472604] Chr6:163181847..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
NM_003730.6(RNASET2):c.78G>A (p.Lys26=) single nucleotide variant not provided [RCV002775963] Chr6:166956105 [GRCh38]
Chr6:167369593 [GRCh37]
Chr6:6q27		 likely benign
NM_003730.6(RNASET2):c.154C>T (p.Gln52Ter) single nucleotide variant Inborn genetic diseases [RCV002686942]|not provided [RCV003777611] Chr6:166948619 [GRCh38]
Chr6:167362107 [GRCh37]
Chr6:6q27		 pathogenic
NM_003730.6(RNASET2):c.15C>T (p.Ala5=) single nucleotide variant not provided [RCV002816030] Chr6:166956168 [GRCh38]
Chr6:167369656 [GRCh37]
Chr6:6q27		 likely benign
NM_003730.6(RNASET2):c.351G>A (p.Lys117=) single nucleotide variant not provided [RCV002994240] Chr6:166938990 [GRCh38]
Chr6:167352478 [GRCh37]
Chr6:6q27		 likely benign
NM_003730.6(RNASET2):c.87-9T>A single nucleotide variant not provided [RCV003075910] Chr6:166952557 [GRCh38]
Chr6:167366045 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.492+18T>C single nucleotide variant not provided [RCV002750746] Chr6:166934073 [GRCh38]
Chr6:167347561 [GRCh37]
Chr6:6q27		 likely benign
NM_003730.6(RNASET2):c.93C>T (p.Asn31=) single nucleotide variant not provided [RCV002837598] Chr6:166952542 [GRCh38]
Chr6:167366030 [GRCh37]
Chr6:6q27		 likely benign
NM_003730.6(RNASET2):c.287A>G (p.Tyr96Cys) single nucleotide variant not provided [RCV002785972] Chr6:166943064 [GRCh38]
Chr6:167356552 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.446+20G>A single nucleotide variant not provided [RCV002638048] Chr6:166938875 [GRCh38]
Chr6:167352363 [GRCh37]
Chr6:6q27		 likely benign
NM_003730.6(RNASET2):c.532G>A (p.Val178Met) single nucleotide variant not provided [RCV002735603] Chr6:166931079 [GRCh38]
Chr6:167344567 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.500A>G (p.Asp167Gly) single nucleotide variant Inborn genetic diseases [RCV002693975] Chr6:166931111 [GRCh38]
Chr6:167344599 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.521G>C (p.Arg174Thr) single nucleotide variant not provided [RCV003054252] Chr6:166931090 [GRCh38]
Chr6:167344578 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.732C>T (p.Gly244=) single nucleotide variant not provided [RCV002622675] Chr6:166929627 [GRCh38]
Chr6:167343115 [GRCh37]
Chr6:6q27		 likely benign
NM_003730.6(RNASET2):c.600A>T (p.Glu200Asp) single nucleotide variant not provided [RCV003002036] Chr6:166929759 [GRCh38]
Chr6:167343247 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.668A>C (p.Lys223Thr) single nucleotide variant not provided [RCV002590604] Chr6:166929691 [GRCh38]
Chr6:167343179 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.22G>C (p.Gly8Arg) single nucleotide variant not provided [RCV002710137] Chr6:166956161 [GRCh38]
Chr6:167369649 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.333-7C>A single nucleotide variant not provided [RCV003024280] Chr6:166939015 [GRCh38]
Chr6:167352503 [GRCh37]
Chr6:6q27		 likely benign
NM_003730.6(RNASET2):c.326G>A (p.Arg109His) single nucleotide variant Inborn genetic diseases [RCV002697031] Chr6:166943025 [GRCh38]
Chr6:167356513 [GRCh37]
Chr6:6q27		 likely benign
NM_003730.6(RNASET2):c.83T>C (p.Leu28Pro) single nucleotide variant Inborn genetic diseases [RCV002641586] Chr6:166956100 [GRCh38]
Chr6:167369588 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.647C>T (p.Pro216Leu) single nucleotide variant Inborn genetic diseases [RCV002664690] Chr6:166929712 [GRCh38]
Chr6:167343200 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.245A>G (p.Asn82Ser) single nucleotide variant not provided [RCV003056588] Chr6:166946698 [GRCh38]
Chr6:167360186 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.523G>A (p.Val175Ile) single nucleotide variant not provided [RCV003024868] Chr6:166931088 [GRCh38]
Chr6:167344576 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.446+16C>G single nucleotide variant not provided [RCV002829321] Chr6:166938879 [GRCh38]
Chr6:167352367 [GRCh37]
Chr6:6q27		 likely benign
NM_003730.6(RNASET2):c.367G>A (p.Ala123Thr) single nucleotide variant not provided [RCV002721098] Chr6:166938974 [GRCh38]
Chr6:167352462 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.568-19T>C single nucleotide variant not provided [RCV002899326] Chr6:166929810 [GRCh38]
Chr6:167343298 [GRCh37]
Chr6:6q27		 likely benign
NM_003730.6(RNASET2):c.10G>A (p.Ala4Thr) single nucleotide variant not provided [RCV003064203] Chr6:166956173 [GRCh38]
Chr6:167369661 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.448G>T (p.Val150Leu) single nucleotide variant not provided [RCV002579110] Chr6:166934135 [GRCh38]
Chr6:167347623 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.590G>A (p.Gly197Asp) single nucleotide variant not provided [RCV002631449] Chr6:166929769 [GRCh38]
Chr6:167343257 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.291G>A (p.Trp97Ter) single nucleotide variant not provided [RCV003063601] Chr6:166943060 [GRCh38]
Chr6:167356548 [GRCh37]
Chr6:6q27		 pathogenic
NM_003730.6(RNASET2):c.493-5A>G single nucleotide variant not provided [RCV003047169] Chr6:166931123 [GRCh38]
Chr6:167344611 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.640A>G (p.Thr214Ala) single nucleotide variant not provided [RCV002608370] Chr6:166929719 [GRCh38]
Chr6:167343207 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.31C>T (p.Leu11=) single nucleotide variant not provided [RCV002603050] Chr6:166956152 [GRCh38]
Chr6:167369640 [GRCh37]
Chr6:6q27		 benign
NM_003730.6(RNASET2):c.325C>T (p.Arg109Cys) single nucleotide variant not provided [RCV002588594] Chr6:166943026 [GRCh38]
Chr6:167356514 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.160G>A (p.Asp54Asn) single nucleotide variant not provided [RCV003066537] Chr6:166948613 [GRCh38]
Chr6:167362101 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.87-12A>C single nucleotide variant not provided [RCV002612392] Chr6:166952560 [GRCh38]
Chr6:167366048 [GRCh37]
Chr6:6q27		 likely benign
NM_003730.6(RNASET2):c.380C>G (p.Ala127Gly) single nucleotide variant Inborn genetic diseases [RCV003217423] Chr6:166938961 [GRCh38]
Chr6:167352449 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.499G>C (p.Asp167His) single nucleotide variant Inborn genetic diseases [RCV003211950] Chr6:166931112 [GRCh38]
Chr6:167344600 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.394AAG[1] (p.Lys133del) microsatellite Cystic leukoencephalopathy without megalencephaly [RCV003135779]|not specified [RCV003230775] Chr6:166938942..166938944 [GRCh38]
Chr6:167352430..167352432 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.705C>A (p.Ser235Arg) single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV003135780] Chr6:166929654 [GRCh38]
Chr6:167343142 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.261+3A>G single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV003135781] Chr6:166946679 [GRCh38]
Chr6:167360167 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.749C>T (p.Pro250Leu) single nucleotide variant Inborn genetic diseases [RCV003220968] Chr6:166929610 [GRCh38]
Chr6:167343098 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.332+1G>T single nucleotide variant Cystic leukoencephalopathy without megalencephaly [RCV003322730] Chr6:166943018 [GRCh38]
Chr6:167356506 [GRCh37]
Chr6:6q27		 pathogenic
NM_003730.6(RNASET2):c.363C>T (p.Cys121=) single nucleotide variant not provided [RCV003873996] Chr6:166938978 [GRCh38]
Chr6:167352466 [GRCh37]
Chr6:6q27		 likely benign
GRCh37/hg19 6q27(chr6:167047570-167576975)x3 copy number gain not provided [RCV003484659] Chr6:167047570..167576975 [GRCh37]
Chr6:6q27		 uncertain significance
GRCh37/hg19 6q27(chr6:167091844-170919482)x1 copy number loss not provided [RCV003482936] Chr6:167091844..170919482 [GRCh37]
Chr6:6q27		 pathogenic
NM_003730.6(RNASET2):c.332+16T>C single nucleotide variant not provided [RCV003694148] Chr6:166943003 [GRCh38]
Chr6:167356491 [GRCh37]
Chr6:6q27		 likely benign
NM_003730.6(RNASET2):c.203+7G>A single nucleotide variant not provided [RCV003547714] Chr6:166948563 [GRCh38]
Chr6:167362051 [GRCh37]
Chr6:6q27		 likely benign
NM_003730.6(RNASET2):c.699C>T (p.Ala233=) single nucleotide variant not provided [RCV003878723] Chr6:166929660 [GRCh38]
Chr6:167343148 [GRCh37]
Chr6:6q27		 likely benign
NM_003730.6(RNASET2):c.159C>T (p.Asn53=) single nucleotide variant not provided [RCV003835756] Chr6:166948614 [GRCh38]
Chr6:167362102 [GRCh37]
Chr6:6q27		 likely benign
NM_003730.6(RNASET2):c.147+8T>C single nucleotide variant not provided [RCV003669987] Chr6:166952480 [GRCh38]
Chr6:167365968 [GRCh37]
Chr6:6q27		 likely benign
NM_003730.6(RNASET2):c.69T>A (p.Gly23=) single nucleotide variant not provided [RCV003844277] Chr6:166956114 [GRCh38]
Chr6:167369602 [GRCh37]
Chr6:6q27		 likely benign
NM_003730.6(RNASET2):c.66C>A (p.Gly22=) single nucleotide variant not provided [RCV003846948] Chr6:166956117 [GRCh38]
Chr6:167369605 [GRCh37]
Chr6:6q27		 likely benign
NM_003730.6(RNASET2):c.144C>T (p.Cys48=) single nucleotide variant not provided [RCV003737406] Chr6:166952491 [GRCh38]
Chr6:167365979 [GRCh37]
Chr6:6q27		 likely benign
GRCh37/hg19 6q27(chr6:167165318-167433823)x1 copy number loss not specified [RCV003986614] Chr6:167165318..167433823 [GRCh37]
Chr6:6q27		 uncertain significance
NM_003730.6(RNASET2):c.147+16T>C single nucleotide variant not provided [RCV003556842] Chr6:166952472 [GRCh38]
Chr6:167365960 [GRCh37]
Chr6:6q27		 likely benign
GRCh37/hg19 6q26-27(chr6:162079329-170919482)x1 copy number loss not specified [RCV003986639] Chr6:162079329..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6q26-27(chr6:162124972-170893669)x1 copy number loss not provided [RCV003885515] Chr6:162124972..170893669 [GRCh37]
Chr6:6q26-27		 pathogenic
NM_003730.6(RNASET2):c.247T>A (p.Leu83Ile) single nucleotide variant not provided [RCV003885122] Chr6:166946696 [GRCh38]
Chr6:167360184 [GRCh37]
Chr6:6q27		 uncertain significance
GRCh37/hg19 6q25.3-27(chr6:160952761-170892276)x1 copy number loss not provided [RCV003334287] Chr6:160952761..170892276 [GRCh37]
Chr6:6q25.3-27		 pathogenic
NM_003730.6(RNASET2):c.332+12C>G single nucleotide variant not provided [RCV003113312] Chr6:166943007 [GRCh38]
Chr6:167356495 [GRCh37]
Chr6:6q27		 likely benign
GRCh38/hg38 6q26-27(chr6:161349282-170584790)x1 copy number loss Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003327715] Chr6:161349282..170584790 [GRCh38]
Chr6:6q26-27		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2007
Count of miRNA genes:775
Interacting mature miRNAs:856
Transcripts:ENST00000028008, ENST00000358165, ENST00000366855, ENST00000421787, ENST00000467705, ENST00000476238, ENST00000478180, ENST00000496851, ENST00000499370, ENST00000508775, ENST00000509073, ENST00000510083
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.

Markers in Region
RH12526  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376167,351,618 - 167,351,741UniSTSGRCh37
Build 366167,271,608 - 167,271,731RGDNCBI36
Celera6168,092,797 - 168,092,920RGD
Cytogenetic Map6q27UniSTS
HuRef6164,824,232 - 164,824,355UniSTS
GeneMap99-GB4 RH Map6636.47UniSTS
NCBI RH Map61672.4UniSTS
AL022449  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376167,348,527 - 167,348,660UniSTSGRCh37
Build 366167,268,517 - 167,268,650RGDNCBI36
Celera6168,089,705 - 168,089,838RGD
Cytogenetic Map6q27UniSTS
HuRef6164,821,140 - 164,821,273UniSTS
A007H48  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376167,343,118 - 167,343,279UniSTSGRCh37
Build 366167,263,108 - 167,263,269RGDNCBI36
Celera6168,084,296 - 168,084,457RGD
Cytogenetic Map6q27UniSTS
HuRef6164,815,731 - 164,815,892UniSTS
GeneMap99-GB4 RH Map6630.13UniSTS
NCBI RH Map61665.2UniSTS
SHGC-32979  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376167,343,019 - 167,343,145UniSTSGRCh37
Build 366167,263,009 - 167,263,135RGDNCBI36
Celera6168,084,197 - 168,084,323RGD
Cytogenetic Map6q27UniSTS
HuRef6164,815,632 - 164,815,758UniSTS
Stanford-G3 RH Map66615.0UniSTS
GeneMap99-GB4 RH Map6635.29UniSTS
GeneMap99-GB4 RH Map6635.23UniSTS
Whitehead-RH Map6863.2UniSTS
NCBI RH Map61672.4UniSTS
GeneMap99-G3 RH Map66918.0UniSTS
WI-15078  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376167,351,509 - 167,351,633UniSTSGRCh37
Build 366167,271,499 - 167,271,623RGDNCBI36
Celera6168,092,688 - 168,092,812RGD
Cytogenetic Map6q27UniSTS
HuRef6164,824,123 - 164,824,247UniSTS
GeneMap99-GB4 RH Map6635.23UniSTS
Whitehead-RH Map6845.0UniSTS
NCBI RH Map61666.3UniSTS


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 1806 1860 1294 285 1842 133 2836 446 2648 237 1247 1412 157 1 1058 1646 1 2
Low 633 1131 432 339 105 332 1520 1749 1085 182 211 200 18 146 1141 5
Below cutoff 4 1 2 1 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AJ419865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ419866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ419867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL159163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB130245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U85625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000028008   ⟹   ENSP00000028008
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,929,545 - 166,956,584 (-)Ensembl
RefSeq Acc Id: ENST00000358165
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,933,375 - 166,957,191 (-)Ensembl
RefSeq Acc Id: ENST00000366855   ⟹   ENSP00000424947
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,929,504 - 166,956,611 (-)Ensembl
RefSeq Acc Id: ENST00000421787   ⟹   ENSP00000390833
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,929,516 - 166,956,543 (-)Ensembl
RefSeq Acc Id: ENST00000467705
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,929,633 - 166,944,053 (-)Ensembl
RefSeq Acc Id: ENST00000476238   ⟹   ENSP00000422846
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,929,540 - 166,957,184 (-)Ensembl
RefSeq Acc Id: ENST00000478180   ⟹   ENSP00000426059
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,929,598 - 166,957,141 (-)Ensembl
RefSeq Acc Id: ENST00000496851
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,933,425 - 166,952,534 (-)Ensembl
RefSeq Acc Id: ENST00000499370
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,933,365 - 166,953,580 (-)Ensembl
RefSeq Acc Id: ENST00000508775   ⟹   ENSP00000426455
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,922,113 - 166,956,550 (-)Ensembl
RefSeq Acc Id: ENST00000509073
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,934,039 - 166,943,239 (-)Ensembl
RefSeq Acc Id: ENST00000510083
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,929,518 - 166,933,049 (-)Ensembl
RefSeq Acc Id: ENST00000611959   ⟹   ENSP00000480244
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,928,488 - 166,956,601 (-)Ensembl
RefSeq Acc Id: ENST00000620173   ⟹   ENSP00000482755
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,928,502 - 166,956,400 (-)Ensembl
RefSeq Acc Id: ENST00000682498
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,928,523 - 166,949,060 (-)Ensembl
RefSeq Acc Id: ENST00000682774   ⟹   ENSP00000507399
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,928,523 - 166,956,221 (-)Ensembl
RefSeq Acc Id: ENST00000683158
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,946,393 - 166,956,182 (-)Ensembl
RefSeq Acc Id: ENST00000683333
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,955,422 - 166,956,567 (-)Ensembl
RefSeq Acc Id: ENST00000683770   ⟹   ENSP00000507710
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,927,868 - 166,956,473 (-)Ensembl
RefSeq Acc Id: ENST00000683968
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,928,523 - 166,955,182 (-)Ensembl
RefSeq Acc Id: ENST00000684086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,934,403 - 166,944,397 (-)Ensembl
RefSeq Acc Id: ENST00000684236   ⟹   ENSP00000508128
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,928,523 - 166,956,182 (-)Ensembl
RefSeq Acc Id: NM_003730   ⟹   NP_003721
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386166,922,113 - 166,956,550 (-)NCBI
GRCh376167,342,992 - 167,370,077 (-)NCBI
Build 366167,262,994 - 167,290,067 (-)NCBI Archive
HuRef6164,815,617 - 164,842,699 (-)ENTREZGENE
CHM1_16167,605,634 - 167,632,656 (-)NCBI
T2T-CHM13v2.06168,304,858 - 168,339,306 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_003721   ⟸   NM_003730
- Peptide Label: precursor
- UniProtKB: Q9BZ46 (UniProtKB/Swiss-Prot),   Q8TCU2 (UniProtKB/Swiss-Prot),   Q5T8Q0 (UniProtKB/Swiss-Prot),   E1P5C3 (UniProtKB/Swiss-Prot),   B2RDA7 (UniProtKB/Swiss-Prot),   Q9BZ47 (UniProtKB/Swiss-Prot),   O00584 (UniProtKB/Swiss-Prot),   D6RHI9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000482755   ⟸   ENST00000620173
RefSeq Acc Id: ENSP00000426059   ⟸   ENST00000478180
RefSeq Acc Id: ENSP00000480244   ⟸   ENST00000611959
RefSeq Acc Id: ENSP00000426455   ⟸   ENST00000508775
RefSeq Acc Id: ENSP00000424947   ⟸   ENST00000366855
RefSeq Acc Id: ENSP00000028008   ⟸   ENST00000028008
RefSeq Acc Id: ENSP00000390833   ⟸   ENST00000421787
RefSeq Acc Id: ENSP00000422846   ⟸   ENST00000476238
RefSeq Acc Id: ENSP00000508128   ⟸   ENST00000684236
RefSeq Acc Id: ENSP00000507399   ⟸   ENST00000682774
RefSeq Acc Id: ENSP00000507710   ⟸   ENST00000683770

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O00584-F1-model_v2 AlphaFold O00584 1-256 view protein structure

Promoters
RGD ID:7209647
Promoter ID:EPDNEW_H10569
Type:initiation region
Name:RNASET2_3
Description:ribonuclease T2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10570  EPDNEW_H10571  EPDNEW_H10572  EPDNEW_H10573  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386166,929,706 - 166,929,766EPDNEW
RGD ID:7209649
Promoter ID:EPDNEW_H10570
Type:initiation region
Name:RNASET2_4
Description:ribonuclease T2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10569  EPDNEW_H10571  EPDNEW_H10572  EPDNEW_H10573  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386166,934,072 - 166,934,132EPDNEW
RGD ID:7209651
Promoter ID:EPDNEW_H10571
Type:initiation region
Name:RNASET2_5
Description:ribonuclease T2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10569  EPDNEW_H10570  EPDNEW_H10572  EPDNEW_H10573  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386166,938,996 - 166,939,056EPDNEW
RGD ID:7209653
Promoter ID:EPDNEW_H10572
Type:initiation region
Name:RNASET2_1
Description:ribonuclease T2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10569  EPDNEW_H10570  EPDNEW_H10571  EPDNEW_H10573  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386166,956,550 - 166,956,610EPDNEW
RGD ID:6804614
Promoter ID:HG_KWN:55764
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000043096
Position:
Human AssemblyChrPosition (strand)Source
Build 366167,277,516 - 167,278,016 (-)MPROMDB
RGD ID:6804613
Promoter ID:HG_KWN:55766
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:OTTHUMT00000043093
Position:
Human AssemblyChrPosition (strand)Source
Build 366167,285,716 - 167,286,657 (-)MPROMDB
RGD ID:6804680
Promoter ID:HG_KWN:55767
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000310843,   ENST00000358165,   NM_003730,   OTTHUMT00000043092,   OTTHUMT00000043094,   OTTHUMT00000043095,   OTTHUMT00000043097,   UC003QVF.1,   UC003QVG.1,   UC003QVI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 366167,289,961 - 167,291,082 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21686 AgrOrtholog
COSMIC RNASET2 COSMIC
Ensembl Genes ENSG00000026297 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000028008.9 UniProtKB/TrEMBL
  ENST00000366855.10 UniProtKB/TrEMBL
  ENST00000421787.5 UniProtKB/Swiss-Prot
  ENST00000476238.6 UniProtKB/Swiss-Prot
  ENST00000478180.6 UniProtKB/TrEMBL
  ENST00000508775 ENTREZGENE
  ENST00000508775.6 UniProtKB/Swiss-Prot
  ENST00000611959.2 UniProtKB/TrEMBL
  ENST00000620173.5 UniProtKB/TrEMBL
  ENST00000682774.1 UniProtKB/TrEMBL
  ENST00000683770.1 UniProtKB/TrEMBL
  ENST00000684236.1 UniProtKB/TrEMBL
Gene3D-CATH 3.90.730.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000026297 GTEx
HGNC ID HGNC:21686 ENTREZGENE
Human Proteome Map RNASET2 Human Proteome Map
InterPro Ribonuclease_T2_eukaryotic UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNase_T2-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNase_T2-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNase_T2_His_AS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNase_T2_His_AS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8635 UniProtKB/Swiss-Prot
NCBI Gene 8635 ENTREZGENE
OMIM 612944 OMIM
PANTHER PTHR11240 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RIBONUCLEASE T2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ribonuclease_T2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA128394541 PharmGKB
PROSITE RNASE_T2_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNASE_T2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF55895 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WWI1_HUMAN UniProtKB/TrEMBL
  A0A087WZM2_HUMAN UniProtKB/TrEMBL
  A0A804HJ89_HUMAN UniProtKB/TrEMBL
  A0A804HJZ7_HUMAN UniProtKB/TrEMBL
  A0A804HKZ2_HUMAN UniProtKB/TrEMBL
  B2RDA7 ENTREZGENE
  D6REQ6_HUMAN UniProtKB/TrEMBL
  D6RHI9 ENTREZGENE, UniProtKB/TrEMBL
  E1P5C3 ENTREZGENE
  J3QQ64_HUMAN UniProtKB/TrEMBL
  O00584 ENTREZGENE
  Q5T8Q0 ENTREZGENE
  Q8TCU2 ENTREZGENE
  Q9BZ46 ENTREZGENE
  Q9BZ47 ENTREZGENE
  RNT2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B2RDA7 UniProtKB/Swiss-Prot
  E1P5C3 UniProtKB/Swiss-Prot
  H0UI39 UniProtKB/TrEMBL
  Q5T8Q0 UniProtKB/Swiss-Prot
  Q8TCU2 UniProtKB/Swiss-Prot
  Q9BZ46 UniProtKB/Swiss-Prot
  Q9BZ47 UniProtKB/Swiss-Prot