BACH2 (BTB domain and CNC homolog 2) - Rat Genome Database

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Gene: BACH2 (BTB domain and CNC homolog 2) Homo sapiens
Analyze
Symbol: BACH2
Name: BTB domain and CNC homolog 2
RGD ID: 1319503
HGNC Page HGNC:14078
Description: Enables sequence-specific double-stranded DNA binding activity. Involved in primary adaptive immune response involving T cells and B cells. Located in cytosol and nucleoplasm. Part of RNA polymerase II transcription regulator complex. Implicated in immunodeficiency 60.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: BTB and CNC homolog 2; BTB and CNC homology 1, basic leucine zipper transcription factor 2; BTBD25; IMD60; transcription regulator protein BACH2
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
GRCh38689,926,528 - 90,296,843 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl689,926,528 - 90,296,843 (-)EnsemblGRCh38hg38GRCh38
GRCh37690,636,247 - 91,006,562 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36690,692,969 - 91,063,182 (-)NCBINCBI36Build 36hg18NCBI36
Build 34690,692,968 - 91,063,182NCBI
Celera691,056,791 - 91,427,144 (-)NCBICelera
Cytogenetic Map6q15NCBI
HuRef687,855,580 - 88,225,476 (-)NCBIHuRef
CHM1_1690,733,911 - 91,104,124 (-)NCBICHM1_1
T2T-CHM13v2.0691,138,217 - 91,508,429 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-anisomycin  (EXP)
1,1-dichloroethene  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2-butoxyethanol  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-sulfonyldiphenol  (EXP)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP,ISO)
alpha-Zearalanol  (ISO)
amphetamine  (ISO)
aristolochic acid A  (EXP)
arsenous acid  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (ISO)
buta-1,3-diene  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
choline  (ISO)
chromium(3+) trichloride  (ISO)
clobetasol  (ISO)
cocaine  (ISO)
cyclosporin A  (EXP)
deoxynivalenol  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dichloromethane  (ISO)
Diisodecyl phthalate  (ISO)
dioxygen  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
epoxiconazole  (ISO)
folic acid  (ISO)
gentamycin  (ISO)
ionomycin  (EXP)
isoflurane  (ISO)
L-methionine  (ISO)
lipopolysaccharide  (ISO)
methamphetamine  (ISO)
methoxychlor  (ISO)
methylmercury chloride  (EXP)
ozone  (ISO)
paracetamol  (EXP,ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
SB 431542  (EXP)
sodium arsenite  (EXP)
sodium fluoride  (ISO)
sotorasib  (EXP)
sunitinib  (EXP)
tamoxifen  (ISO)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thapsigargin  (EXP)
thiram  (EXP)
trametinib  (EXP)
Tributyltin oxide  (EXP)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
troglitazone  (ISO)
tungsten  (ISO)
urethane  (EXP)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8887638   PMID:10669750   PMID:10809773   PMID:10949928   PMID:11746976   PMID:11923289   PMID:12477932   PMID:12829606   PMID:14574404   PMID:14982850   PMID:15060166   PMID:15146197  
PMID:16344560   PMID:16832351   PMID:17018862   PMID:17044046   PMID:17262715   PMID:17383980   PMID:17620599   PMID:17991429   PMID:18256039   PMID:18769450   PMID:18840781   PMID:18929412  
PMID:18978792   PMID:19073967   PMID:19274049   PMID:19430480   PMID:20125193   PMID:20190752   PMID:20203524   PMID:20379614   PMID:20647273   PMID:21102463   PMID:21145461   PMID:21412927  
PMID:21829393   PMID:21833088   PMID:21841780   PMID:21873635   PMID:22194330   PMID:22561518   PMID:22589738   PMID:22858985   PMID:22899287   PMID:23128233   PMID:23251661   PMID:23273568  
PMID:23382691   PMID:23661758   PMID:23852341   PMID:23865571   PMID:23936317   PMID:24022229   PMID:24075570   PMID:24346624   PMID:24450488   PMID:24586183   PMID:24608439   PMID:24858026  
PMID:24968937   PMID:24999842   PMID:25011556   PMID:25013050   PMID:25444856   PMID:25670004   PMID:25873652   PMID:26186194   PMID:26444573   PMID:26969735   PMID:27052415   PMID:27206783  
PMID:27680876   PMID:28030830   PMID:28256087   PMID:28473536   PMID:28514442   PMID:28530713   PMID:28592433   PMID:28718761   PMID:28887441   PMID:29129929   PMID:29452228   PMID:29459360  
PMID:29529253   PMID:29991969   PMID:30250186   PMID:30654767   PMID:30970177   PMID:31501353   PMID:31753913   PMID:31808546   PMID:32082072   PMID:32236312   PMID:32296183   PMID:32892482  
PMID:33187986   PMID:33249782   PMID:33316352   PMID:33393145   PMID:33447883   PMID:33875646   PMID:33903979   PMID:33961781   PMID:33966174   PMID:34907913   PMID:35016035   PMID:35264460  
PMID:35544467   PMID:35563538   PMID:36178457   PMID:36573315   PMID:36781170   PMID:38459508   PMID:38580884   PMID:38824974   PMID:38901430   PMID:39009838  


Genomics

Comparative Map Data
BACH2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38689,926,528 - 90,296,843 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl689,926,528 - 90,296,843 (-)EnsemblGRCh38hg38GRCh38
GRCh37690,636,247 - 91,006,562 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36690,692,969 - 91,063,182 (-)NCBINCBI36Build 36hg18NCBI36
Build 34690,692,968 - 91,063,182NCBI
Celera691,056,791 - 91,427,144 (-)NCBICelera
Cytogenetic Map6q15NCBI
HuRef687,855,580 - 88,225,476 (-)NCBIHuRef
CHM1_1690,733,911 - 91,104,124 (-)NCBICHM1_1
T2T-CHM13v2.0691,138,217 - 91,508,429 (-)NCBIT2T-CHM13v2.0
Bach2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39432,238,413 - 32,586,109 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl432,238,804 - 32,586,108 (+)EnsemblGRCm39 Ensembl
GRCm38432,238,413 - 32,586,109 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl432,238,804 - 32,586,108 (+)EnsemblGRCm38mm10GRCm38
MGSCv37432,504,410 - 32,673,083 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36432,567,563 - 32,909,812 (+)NCBIMGSCv36mm8
Celera432,164,289 - 32,333,354 (+)NCBICelera
Cytogenetic Map4A5NCBI
cM Map414.02NCBI
Bach2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8551,428,802 - 51,779,030 (+)NCBIGRCr8
mRatBN7.2546,632,338 - 46,982,676 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl546,638,317 - 46,977,877 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx548,859,726 - 49,119,822 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0550,458,890 - 50,718,988 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0550,402,412 - 50,664,315 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0547,458,891 - 47,807,176 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl547,546,014 - 47,807,166 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0552,073,295 - 52,410,910 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4548,611,805 - 48,881,943 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera545,479,904 - 45,738,863 (+)NCBICelera
Cytogenetic Map5q21NCBI
Bach2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541116,613,397 - 16,877,834 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541116,607,546 - 16,947,359 (-)NCBIChiLan1.0ChiLan1.0
BACH2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v25110,011,721 - 110,381,491 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan16107,912,858 - 108,282,578 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0687,806,188 - 88,175,840 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1691,081,381 - 91,212,497 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl691,083,533 - 91,160,552 (-)Ensemblpanpan1.1panPan2
BACH2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11249,101,621 - 49,375,415 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1249,106,523 - 49,460,286 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1248,908,403 - 49,267,597 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01249,910,921 - 50,270,587 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1249,916,822 - 50,270,719 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11249,225,818 - 49,503,613 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01249,126,581 - 49,485,448 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01249,318,946 - 49,677,611 (-)NCBIUU_Cfam_GSD_1.0
Bach2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494684,094,552 - 84,429,900 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365102,299,831 - 2,371,544 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365102,041,004 - 2,375,215 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BACH2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl157,899,808 - 58,281,430 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1157,881,203 - 58,281,740 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2164,904,041 - 65,200,342 (-)NCBISscrofa10.2Sscrofa10.2susScr3
BACH2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11314,681,323 - 15,049,690 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1314,687,188 - 14,763,706 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040191,077,385 - 191,445,395 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Bach2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247993,984,546 - 4,256,898 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247993,893,548 - 4,262,344 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in BACH2
470 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1 copy number loss See cases [RCV000052192] Chr6:82569098..93753476 [GRCh38]
Chr6:83278815..94463194 [GRCh37]
Chr6:83335534..94519915 [NCBI36]
Chr6:6q14.1-16.1		 pathogenic
NM_021813.4(BACH2):c.1044G>A (p.Thr348=) single nucleotide variant not provided [RCV002216368] Chr6:89951062 [GRCh38]
Chr6:90660781 [GRCh37]
Chr6:90717502 [NCBI36]
Chr6:6q15		 likely benign|not provided
NM_001170794.1(BACH2):c.1852C>T (p.Pro618Ser) single nucleotide variant Malignant melanoma [RCV000061500] Chr6:89938335 [GRCh38]
Chr6:90648054 [GRCh37]
Chr6:90704775 [NCBI36]
Chr6:6q15		 not provided
NM_001170794.1(BACH2):c.-161-15474G>T single nucleotide variant Lung cancer [RCV000097256] Chr6:90104583 [GRCh38]
Chr6:90814302 [GRCh37]
Chr6:6q15		 uncertain significance
NM_001170794.1(BACH2):c.-162+48427G>T single nucleotide variant Lung cancer [RCV000097257] Chr6:90158142 [GRCh38]
Chr6:90867861 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1102C>T (p.Pro368Ser) single nucleotide variant Immunodeficiency 60 [RCV001332410]|not provided [RCV002546559] Chr6:89951004 [GRCh38]
Chr6:90660723 [GRCh37]
Chr6:6q15		 uncertain significance
GRCh38/hg38 6q15(chr6:89931798-91707636)x3 copy number gain See cases [RCV000134297] Chr6:89931798..91707636 [GRCh38]
Chr6:90641517..92417354 [GRCh37]
Chr6:90698238..92474075 [NCBI36]
Chr6:6q15		 uncertain significance
GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1 copy number loss See cases [RCV000135773] Chr6:83838303..98822313 [GRCh38]
Chr6:84548022..99270189 [GRCh37]
Chr6:84604741..99376910 [NCBI36]
Chr6:6q14.2-16.1		 pathogenic
GRCh38/hg38 6q14.3-16.1(chr6:85804273-93189258)x1 copy number loss See cases [RCV000135450] Chr6:85804273..93189258 [GRCh38]
Chr6:86513991..93898976 [GRCh37]
Chr6:86570710..93955697 [NCBI36]
Chr6:6q14.3-16.1		 pathogenic
GRCh38/hg38 6q14.3-15(chr6:85370716-90669793)x1 copy number loss See cases [RCV000136757] Chr6:85370716..90669793 [GRCh38]
Chr6:86080434..91379512 [GRCh37]
Chr6:86137153..91436233 [NCBI36]
Chr6:6q14.3-15		 pathogenic
GRCh38/hg38 6q15(chr6:90066705-90579827)x3 copy number gain See cases [RCV000138045] Chr6:90066705..90579827 [GRCh38]
Chr6:90776424..91289546 [GRCh37]
Chr6:90833145..91346267 [NCBI36]
Chr6:6q15		 uncertain significance
GRCh38/hg38 6q15(chr6:90066705-90571680)x3 copy number gain See cases [RCV000140302] Chr6:90066705..90571680 [GRCh38]
Chr6:90776424..91281399 [GRCh37]
Chr6:90833145..91338120 [NCBI36]
Chr6:6q15		 uncertain significance
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 copy number gain See cases [RCV000139729] Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1		 pathogenic
GRCh38/hg38 6q15(chr6:89339079-92096042)x3 copy number gain See cases [RCV000142031] Chr6:89339079..92096042 [GRCh38]
Chr6:90048798..92805760 [GRCh37]
Chr6:90105517..92862481 [NCBI36]
Chr6:6q15		 uncertain significance
GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1 copy number loss See cases [RCV000143505] Chr6:75926199..92710793 [GRCh38]
Chr6:76635916..93420511 [GRCh37]
Chr6:76692636..93477232 [NCBI36]
Chr6:6q14.1-16.1		 pathogenic
GRCh37/hg19 6q15(chr6:90774789-91295547)x3 copy number gain See cases [RCV000447562] Chr6:90774789..91295547 [GRCh37]
Chr6:6q15		 likely benign
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)x1 copy number loss See cases [RCV000445666] Chr6:85988428..120548687 [GRCh37]
Chr6:6q14.3-22.31		 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
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 6q15-16.1(chr6:89941373-95634177)x3 copy number gain See cases [RCV000511573] Chr6:89941373..95634177 [GRCh37]
Chr6:6q15-16.1		 likely benign
GRCh37/hg19 6q15(chr6:90774789-91284990)x3 copy number gain See cases [RCV000511261] Chr6:90774789..91284990 [GRCh37]
Chr6:6q15		 uncertain significance
GRCh37/hg19 6q15(chr6:90887390-91728519)x3 copy number gain See cases [RCV000663398] Chr6:90887390..91728519 [GRCh37]
Chr6:6q15		 uncertain significance
GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3 copy number gain not provided [RCV000682688] Chr6:81261418..97796269 [GRCh37]
Chr6:6q14.1-16.1		 pathogenic
Single allele deletion not provided [RCV000677932] Chr6:83319012..91907669 [GRCh37]
Chr6:6q14.1-15		 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 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 6q15(chr6:90296588-90646226)x3 copy number gain not provided [RCV000745905] Chr6:90296588..90646226 [GRCh37]
Chr6:6q15		 benign
GRCh37/hg19 6q15(chr6:90772256-91284990)x3 copy number gain not provided [RCV000745906] Chr6:90772256..91284990 [GRCh37]
Chr6:6q15		 benign
GRCh37/hg19 6q15(chr6:91005130-91006749)x1 copy number loss not provided [RCV000745907] Chr6:91005130..91006749 [GRCh37]
Chr6:6q15		 benign
NM_021813.4(BACH2):c.15G>A (p.Glu5=) single nucleotide variant BACH2-related disorder [RCV003978330]|Immunodeficiency 60 [RCV002489337]|not provided [RCV000958580] Chr6:90008830 [GRCh38]
Chr6:90718549 [GRCh37]
Chr6:6q15		 benign|likely benign
NM_021813.4(BACH2):c.2103A>G (p.Glu701=) single nucleotide variant not provided [RCV000892642] Chr6:89932831 [GRCh38]
Chr6:90642550 [GRCh37]
Chr6:6q15		 benign
NM_021813.4(BACH2):c.1252G>A (p.Ala418Thr) single nucleotide variant BACH2-related disorder [RCV003920529]|not provided [RCV000881250] Chr6:89950854 [GRCh38]
Chr6:90660573 [GRCh37]
Chr6:6q15		 benign|likely benign
NM_021813.4(BACH2):c.2267C>A (p.Ala756Glu) single nucleotide variant not specified [RCV004299644] Chr6:89932667 [GRCh38]
Chr6:90642386 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.71T>C (p.Leu24Pro) single nucleotide variant Immunodeficiency 60 [RCV000767852] Chr6:90008774 [GRCh38]
Chr6:90718493 [GRCh37]
Chr6:6q15		 pathogenic
NM_021813.4(BACH2):c.2362G>A (p.Glu788Lys) single nucleotide variant Immunodeficiency 60 [RCV000767853]|not provided [RCV001531012] Chr6:89932572 [GRCh38]
Chr6:90642291 [GRCh37]
Chr6:6q15		 pathogenic|uncertain significance
NM_021813.4(BACH2):c.1727G>A (p.Arg576Gln) single nucleotide variant not provided [RCV000788895] Chr6:89950379 [GRCh38]
Chr6:90660098 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1735A>G (p.Ile579Val) single nucleotide variant not provided [RCV000926677] Chr6:89950371 [GRCh38]
Chr6:90660090 [GRCh37]
Chr6:6q15		 likely benign
GRCh37/hg19 6q14.3-16.1(chr6:87627836-93698486)x1 copy number loss not provided [RCV000848967] Chr6:87627836..93698486 [GRCh37]
Chr6:6q14.3-16.1		 uncertain significance
NM_021813.4(BACH2):c.2230A>G (p.Ile744Val) single nucleotide variant BACH2-related disorder [RCV003413584]|not provided [RCV000788691]|not specified [RCV004027372] Chr6:89932704 [GRCh38]
Chr6:90642423 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.955A>G (p.Thr319Ala) single nucleotide variant Immunodeficiency 60 [RCV003224468]|not provided [RCV000788775]|not specified [RCV004601272] Chr6:89951151 [GRCh38]
Chr6:90660870 [GRCh37]
Chr6:6q15		 likely benign|uncertain significance
GRCh37/hg19 6q15-16.1(chr6:88783642-96282103)x3 copy number gain not provided [RCV000849950] Chr6:88783642..96282103 [GRCh37]
Chr6:6q15-16.1		 uncertain significance
GRCh37/hg19 6q15(chr6:90108876-90806063)x3 copy number gain not provided [RCV001005830] Chr6:90108876..90806063 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.672G>A (p.Ala224=) single nucleotide variant not provided [RCV003105090] Chr6:89951434 [GRCh38]
Chr6:90661153 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2036G>A (p.Arg679His) single nucleotide variant not provided [RCV003104454] Chr6:89938151 [GRCh38]
Chr6:90647870 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1536C>G (p.Pro512=) single nucleotide variant BACH2-related disorder [RCV003910515]|not provided [RCV000887869] Chr6:89950570 [GRCh38]
Chr6:90660289 [GRCh37]
Chr6:6q15		 benign|likely benign
NM_021813.4(BACH2):c.2361C>T (p.Ser787=) single nucleotide variant not provided [RCV000961743] Chr6:89932573 [GRCh38]
Chr6:90642292 [GRCh37]
Chr6:6q15		 benign
NM_021813.4(BACH2):c.583G>A (p.Ala195Thr) single nucleotide variant BACH2-related disorder [RCV003977964]|not provided [RCV000909615] Chr6:89951523 [GRCh38]
Chr6:90661242 [GRCh37]
Chr6:6q15		 benign|likely benign
NM_021813.4(BACH2):c.2326C>A (p.Pro776Thr) single nucleotide variant not provided [RCV001090673]|not specified [RCV004031965] Chr6:89932608 [GRCh38]
Chr6:90642327 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.616C>G (p.Leu206Val) single nucleotide variant not specified [RCV004162362] Chr6:89951490 [GRCh38]
Chr6:90661209 [GRCh37]
Chr6:6q15		 uncertain significance
GRCh37/hg19 6q15(chr6:90085893-90910484)x3 copy number gain not provided [RCV001259391] Chr6:90085893..90910484 [GRCh37]
Chr6:6q15		 uncertain significance
GRCh37/hg19 6q15(chr6:90285430-90706261)x3 copy number gain not provided [RCV001259392] Chr6:90285430..90706261 [GRCh37]
Chr6:6q15		 uncertain significance
NC_000006.11:g.(?_90518279)_(91296602_?)dup duplication not provided [RCV001339947] Chr6:90518279..91296602 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2296G>A (p.Val766Met) single nucleotide variant not provided [RCV001297624] Chr6:89932638 [GRCh38]
Chr6:90642357 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2277A>G (p.Gln759=) single nucleotide variant not provided [RCV001313629] Chr6:89932657 [GRCh38]
Chr6:90642376 [GRCh37]
Chr6:6q15		 likely benign|uncertain significance
NM_021813.4(BACH2):c.2217C>T (p.Pro739=) single nucleotide variant not provided [RCV001423216] Chr6:89932717 [GRCh38]
Chr6:90642436 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1309G>A (p.Ala437Thr) single nucleotide variant not provided [RCV001358182] Chr6:89950797 [GRCh38]
Chr6:90660516 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.435G>A (p.Lys145=) single nucleotide variant not provided [RCV001373573] Chr6:89951671 [GRCh38]
Chr6:90661390 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1843C>A (p.Leu615Ile) single nucleotide variant not provided [RCV001354596] Chr6:89938344 [GRCh38]
Chr6:90648063 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1724T>C (p.Val575Ala) single nucleotide variant Immunodeficiency 60 [RCV001270769] Chr6:89950382 [GRCh38]
Chr6:90660101 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1506A>G (p.Val502=) single nucleotide variant Immunodeficiency 60 [RCV001553899]|not provided [RCV001509839]|not specified [RCV003399268] Chr6:89950600 [GRCh38]
Chr6:90660319 [GRCh37]
Chr6:6q15		 benign
NM_021813.4(BACH2):c.1227G>C (p.Ser409=) single nucleotide variant not provided [RCV001512008] Chr6:89950879 [GRCh38]
Chr6:90660598 [GRCh37]
Chr6:6q15		 benign
NM_021813.4(BACH2):c.2220G>A (p.Thr740=) single nucleotide variant BACH2-related disorder [RCV003948455]|not provided [RCV001497552] Chr6:89932714 [GRCh38]
Chr6:90642433 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2457C>T (p.Thr819=) single nucleotide variant not provided [RCV001453766] Chr6:89932477 [GRCh38]
Chr6:90642196 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.624C>T (p.Pro208=) single nucleotide variant not provided [RCV001416051] Chr6:89951482 [GRCh38]
Chr6:90661201 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1071C>T (p.Pro357=) single nucleotide variant not provided [RCV001514431]|not specified [RCV003399281] Chr6:89951035 [GRCh38]
Chr6:90660754 [GRCh37]
Chr6:6q15		 benign
NM_021813.4(BACH2):c.249A>G (p.Thr83=) single nucleotide variant Immunodeficiency 60 [RCV001553900]|not provided [RCV001514432]|not specified [RCV003394090] Chr6:89951857 [GRCh38]
Chr6:90661576 [GRCh37]
Chr6:6q15		 benign
NM_021813.4(BACH2):c.168C>T (p.Ala56=) single nucleotide variant BACH2-related disorder [RCV003956168]|not provided [RCV001515672] Chr6:90008677 [GRCh38]
Chr6:90718396 [GRCh37]
Chr6:6q15		 benign|likely benign
NM_021813.4(BACH2):c.1435G>A (p.Ala479Thr) single nucleotide variant BACH2-related disorder [RCV003948482]|not provided [RCV001506674] Chr6:89950671 [GRCh38]
Chr6:90660390 [GRCh37]
Chr6:6q15		 benign|likely benign
NM_021813.4(BACH2):c.1244G>A (p.Gly415Glu) single nucleotide variant BACH2-related disorder [RCV003900647]|not provided [RCV001476397] Chr6:89950862 [GRCh38]
Chr6:90660581 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.579G>A (p.Glu193=) single nucleotide variant BACH2-related disorder [RCV003931001]|not provided [RCV001482618] Chr6:89951527 [GRCh38]
Chr6:90661246 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2160C>T (p.Pro720=) single nucleotide variant not provided [RCV001517542] Chr6:89932774 [GRCh38]
Chr6:90642493 [GRCh37]
Chr6:6q15		 benign
NM_021813.4(BACH2):c.871C>G (p.Leu291Val) single nucleotide variant not provided [RCV001517543] Chr6:89951235 [GRCh38]
Chr6:90660954 [GRCh37]
Chr6:6q15		 benign
NM_021813.4(BACH2):c.1332G>A (p.Ser444=) single nucleotide variant not provided [RCV001454649] Chr6:89950774 [GRCh38]
Chr6:90660493 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2295C>T (p.Asn765=) single nucleotide variant not provided [RCV001515478]|not specified [RCV003487343] Chr6:89932639 [GRCh38]
Chr6:90642358 [GRCh37]
Chr6:6q15		 benign
NM_021813.4(BACH2):c.1587G>A (p.Ala529=) single nucleotide variant not provided [RCV001399292] Chr6:89950519 [GRCh38]
Chr6:90660238 [GRCh37]
Chr6:6q15		 likely benign
GRCh37/hg19 6q15-16.1(chr6:90008961-93761490)x1 copy number loss not provided [RCV001832990] Chr6:90008961..93761490 [GRCh37]
Chr6:6q15-16.1		 uncertain significance
NM_021813.4(BACH2):c.2428C>T (p.Pro810Ser) single nucleotide variant not provided [RCV002045276] Chr6:89932506 [GRCh38]
Chr6:90642225 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.484G>C (p.Glu162Gln) single nucleotide variant not provided [RCV001971056] Chr6:89951622 [GRCh38]
Chr6:90661341 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2132A>G (p.Gln711Arg) single nucleotide variant not provided [RCV001971403]|not specified [RCV004042333] Chr6:89932802 [GRCh38]
Chr6:90642521 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1825A>G (p.Arg609Gly) single nucleotide variant not provided [RCV001971285]|not specified [RCV004042262] Chr6:89950281 [GRCh38]
Chr6:90660000 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1211A>G (p.Asn404Ser) single nucleotide variant not provided [RCV001929797] Chr6:89950895 [GRCh38]
Chr6:90660614 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1534C>G (p.Pro512Ala) single nucleotide variant not provided [RCV001870605] Chr6:89950572 [GRCh38]
Chr6:90660291 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.999G>T (p.Arg333Ser) single nucleotide variant not provided [RCV001948503] Chr6:89951107 [GRCh38]
Chr6:90660826 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2281G>A (p.Ala761Thr) single nucleotide variant not provided [RCV001863925] Chr6:89932653 [GRCh38]
Chr6:90642372 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2151C>G (p.Ile717Met) single nucleotide variant not provided [RCV001969783] Chr6:89932783 [GRCh38]
Chr6:90642502 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.100G>A (p.Asp34Asn) single nucleotide variant not provided [RCV002003576] Chr6:90008745 [GRCh38]
Chr6:90718464 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1006G>C (p.Ala336Pro) single nucleotide variant not provided [RCV002040448] Chr6:89951100 [GRCh38]
Chr6:90660819 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1656G>T (p.Gln552His) single nucleotide variant not provided [RCV001909245]|not specified [RCV004042740] Chr6:89950450 [GRCh38]
Chr6:90660169 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2315C>T (p.Pro772Leu) single nucleotide variant not provided [RCV002039651]|not specified [RCV004038864] Chr6:89932619 [GRCh38]
Chr6:90642338 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1364A>G (p.Asp455Gly) single nucleotide variant not provided [RCV001983672] Chr6:89950742 [GRCh38]
Chr6:90660461 [GRCh37]
Chr6:6q15		 uncertain significance
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687) copy number loss not specified [RCV002053595] Chr6:85988428..120548687 [GRCh37]
Chr6:6q14.3-22.31		 pathogenic
GRCh37/hg19 6q15(chr6:90189085-90697359) copy number gain not specified [RCV002053597] Chr6:90189085..90697359 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1045A>G (p.Lys349Glu) single nucleotide variant not provided [RCV001984383] Chr6:89951061 [GRCh38]
Chr6:90660780 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1362G>T (p.Leu454Phe) single nucleotide variant not provided [RCV002005169] Chr6:89950744 [GRCh38]
Chr6:90660463 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.486GGA[2] (p.Glu164del) microsatellite not provided [RCV001893222] Chr6:89951612..89951614 [GRCh38]
Chr6:90661331..90661333 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.240G>T (p.Glu80Asp) single nucleotide variant not provided [RCV001891398] Chr6:90008605 [GRCh38]
Chr6:90718324 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2294A>G (p.Asn765Ser) single nucleotide variant not provided [RCV001969534] Chr6:89932640 [GRCh38]
Chr6:90642359 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.485A>C (p.Glu162Ala) single nucleotide variant not provided [RCV001872173] Chr6:89951621 [GRCh38]
Chr6:90661340 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.506A>C (p.Glu169Ala) single nucleotide variant not provided [RCV001894342] Chr6:89951600 [GRCh38]
Chr6:90661319 [GRCh37]
Chr6:6q15		 uncertain significance
GRCh37/hg19 6q12-16.1(chr6:69938252-94379210) copy number gain not specified [RCV002053581] Chr6:69938252..94379210 [GRCh37]
Chr6:6q12-16.1		 pathogenic
NM_021813.4(BACH2):c.839C>T (p.Pro280Leu) single nucleotide variant not provided [RCV002005934] Chr6:89951267 [GRCh38]
Chr6:90660986 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2183G>A (p.Arg728Gln) single nucleotide variant BACH2-related disorder [RCV003426240]|not provided [RCV001893517] Chr6:89932751 [GRCh38]
Chr6:90642470 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.31A>C (p.Met11Leu) single nucleotide variant not provided [RCV001894380] Chr6:90008814 [GRCh38]
Chr6:90718533 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.766A>G (p.Thr256Ala) single nucleotide variant not provided [RCV001966919] Chr6:89951340 [GRCh38]
Chr6:90661059 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1586C>T (p.Ala529Val) single nucleotide variant not provided [RCV001945849] Chr6:89950520 [GRCh38]
Chr6:90660239 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1078T>A (p.Ser360Thr) single nucleotide variant not provided [RCV001945948] Chr6:89951028 [GRCh38]
Chr6:90660747 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.757T>G (p.Phe253Val) single nucleotide variant not provided [RCV002003240] Chr6:89951349 [GRCh38]
Chr6:90661068 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2402C>T (p.Pro801Leu) single nucleotide variant not provided [RCV001909421]|not specified [RCV004042776] Chr6:89932532 [GRCh38]
Chr6:90642251 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2327C>T (p.Pro776Leu) single nucleotide variant not provided [RCV001940778] Chr6:89932607 [GRCh38]
Chr6:90642326 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1081C>A (p.Gln361Lys) single nucleotide variant not provided [RCV002028292] Chr6:89951025 [GRCh38]
Chr6:90660744 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.627G>C (p.Glu209Asp) single nucleotide variant not provided [RCV002020314] Chr6:89951479 [GRCh38]
Chr6:90661198 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1346C>T (p.Ser449Phe) single nucleotide variant not provided [RCV001864702] Chr6:89950760 [GRCh38]
Chr6:90660479 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1410C>T (p.Ala470=) single nucleotide variant not provided [RCV002037821] Chr6:89950696 [GRCh38]
Chr6:90660415 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.898G>A (p.Ala300Thr) single nucleotide variant not provided [RCV001917343]|not specified [RCV004039106] Chr6:89951208 [GRCh38]
Chr6:90660927 [GRCh37]
Chr6:6q15		 likely benign|uncertain significance
NM_021813.4(BACH2):c.452G>A (p.Arg151His) single nucleotide variant not provided [RCV002031796] Chr6:89951654 [GRCh38]
Chr6:90661373 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.889G>A (p.Glu297Lys) single nucleotide variant not provided [RCV002028186] Chr6:89951217 [GRCh38]
Chr6:90660936 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.551A>G (p.Gln184Arg) single nucleotide variant not provided [RCV001877392] Chr6:89951555 [GRCh38]
Chr6:90661274 [GRCh37]
Chr6:6q15		 likely benign|uncertain significance
NM_021813.4(BACH2):c.634G>A (p.Val212Met) single nucleotide variant not provided [RCV001877450]|not specified [RCV004040603] Chr6:89951472 [GRCh38]
Chr6:90661191 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.891G>C (p.Glu297Asp) single nucleotide variant not provided [RCV001951752] Chr6:89951215 [GRCh38]
Chr6:90660934 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2203C>T (p.Pro735Ser) single nucleotide variant not provided [RCV001921207] Chr6:89932731 [GRCh38]
Chr6:90642450 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.952C>G (p.Pro318Ala) single nucleotide variant not provided [RCV002028421] Chr6:89951154 [GRCh38]
Chr6:90660873 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.503A>G (p.Glu168Gly) single nucleotide variant not provided [RCV001931543] Chr6:89951603 [GRCh38]
Chr6:90661322 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.431G>A (p.Arg144Gln) single nucleotide variant not provided [RCV001896956] Chr6:89951675 [GRCh38]
Chr6:90661394 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1331C>T (p.Ser444Leu) single nucleotide variant not provided [RCV001974673] Chr6:89950775 [GRCh38]
Chr6:90660494 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.92G>A (p.Arg31Gln) single nucleotide variant not provided [RCV001922867] Chr6:90008753 [GRCh38]
Chr6:90718472 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1340C>T (p.Ser447Phe) single nucleotide variant not provided [RCV001960258] Chr6:89950766 [GRCh38]
Chr6:90660485 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.716C>T (p.Thr239Ile) single nucleotide variant not provided [RCV002035066] Chr6:89951390 [GRCh38]
Chr6:90661109 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.595G>T (p.Val199Leu) single nucleotide variant not provided [RCV001997746] Chr6:89951511 [GRCh38]
Chr6:90661230 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1183C>T (p.Pro395Ser) single nucleotide variant not provided [RCV001884570] Chr6:89950923 [GRCh38]
Chr6:90660642 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.847G>A (p.Glu283Lys) single nucleotide variant not provided [RCV001899554] Chr6:89951259 [GRCh38]
Chr6:90660978 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.406A>C (p.Ser136Arg) single nucleotide variant not provided [RCV002035738] Chr6:89951700 [GRCh38]
Chr6:90661419 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.332G>A (p.Arg111His) single nucleotide variant not provided [RCV002036290]|not specified [RCV004044791] Chr6:89951774 [GRCh38]
Chr6:90661493 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.908G>A (p.Arg303Lys) single nucleotide variant not provided [RCV002035214] Chr6:89951198 [GRCh38]
Chr6:90660917 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1004T>C (p.Val335Ala) single nucleotide variant not provided [RCV001922971] Chr6:89951102 [GRCh38]
Chr6:90660821 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.864C>G (p.Ser288Arg) single nucleotide variant not provided [RCV001938757]|not specified [RCV004041883] Chr6:89951242 [GRCh38]
Chr6:90660961 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.195G>A (p.Ala65=) single nucleotide variant not provided [RCV001960662] Chr6:90008650 [GRCh38]
Chr6:90718369 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1337A>G (p.His446Arg) single nucleotide variant BACH2-related disorder [RCV003403661]|not provided [RCV002036430] Chr6:89950769 [GRCh38]
Chr6:90660488 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2267C>T (p.Ala756Val) single nucleotide variant not provided [RCV001878316]|not specified [RCV004039616] Chr6:89932667 [GRCh38]
Chr6:90642386 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2313_2314delinsAA (p.Pro772Thr) indel not provided [RCV001919972] Chr6:89932620..89932621 [GRCh38]
Chr6:90642339..90642340 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.962C>T (p.Thr321Met) single nucleotide variant not provided [RCV001979818]|not specified [RCV004603105] Chr6:89951144 [GRCh38]
Chr6:90660863 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1829G>A (p.Gly610Asp) single nucleotide variant not provided [RCV001900142] Chr6:89950277 [GRCh38]
Chr6:90659996 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1351G>T (p.Val451Leu) single nucleotide variant not provided [RCV001902619] Chr6:89950755 [GRCh38]
Chr6:90660474 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.613G>A (p.Ala205Thr) single nucleotide variant not provided [RCV001936794] Chr6:89951493 [GRCh38]
Chr6:90661212 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.836C>T (p.Pro279Leu) single nucleotide variant not provided [RCV001922209] Chr6:89951270 [GRCh38]
Chr6:90660989 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.911C>A (p.Ala304Glu) single nucleotide variant not provided [RCV001899729]|not specified [RCV004039775] Chr6:89951195 [GRCh38]
Chr6:90660914 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.670G>A (p.Ala224Thr) single nucleotide variant not provided [RCV001980359]|not specified [RCV004045274] Chr6:89951436 [GRCh38]
Chr6:90661155 [GRCh37]
Chr6:6q15		 conflicting interpretations of pathogenicity|uncertain significance
NM_021813.4(BACH2):c.1226C>T (p.Ser409Leu) single nucleotide variant not provided [RCV002019663]|not specified [RCV004045925] Chr6:89950880 [GRCh38]
Chr6:90660599 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1076C>T (p.Thr359Ile) single nucleotide variant BACH2-related disorder [RCV003948864]|not provided [RCV001999292] Chr6:89951030 [GRCh38]
Chr6:90660749 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1447G>A (p.Gly483Ser) single nucleotide variant not provided [RCV001924388] Chr6:89950659 [GRCh38]
Chr6:90660378 [GRCh37]
Chr6:6q15		 likely benign|uncertain significance
NM_021813.4(BACH2):c.1252G>T (p.Ala418Ser) single nucleotide variant not provided [RCV001924454] Chr6:89950854 [GRCh38]
Chr6:90660573 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.680A>G (p.Gln227Arg) single nucleotide variant not provided [RCV002030639] Chr6:89951426 [GRCh38]
Chr6:90661145 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2240C>T (p.Ala747Val) single nucleotide variant not provided [RCV001902606]|not specified [RCV004041334] Chr6:89932694 [GRCh38]
Chr6:90642413 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1162T>C (p.Phe388Leu) single nucleotide variant not provided [RCV002027923] Chr6:89950944 [GRCh38]
Chr6:90660663 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.931C>G (p.Arg311Gly) single nucleotide variant not provided [RCV001898945] Chr6:89951175 [GRCh38]
Chr6:90660894 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2281G>T (p.Ala761Ser) single nucleotide variant BACH2-related disorder [RCV004752135]|not provided [RCV002048832] Chr6:89932653 [GRCh38]
Chr6:90642372 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1122G>C (p.Lys374Asn) single nucleotide variant not provided [RCV001957982] Chr6:89950984 [GRCh38]
Chr6:90660703 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.19C>T (p.Pro7Ser) single nucleotide variant not provided [RCV001900185] Chr6:90008826 [GRCh38]
Chr6:90718545 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.568A>G (p.Ile190Val) single nucleotide variant not provided [RCV001976998] Chr6:89951538 [GRCh38]
Chr6:90661257 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.971C>G (p.Ala324Gly) single nucleotide variant not provided [RCV001930804] Chr6:89951135 [GRCh38]
Chr6:90660854 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1779C>T (p.Ser593=) single nucleotide variant not provided [RCV002170550] Chr6:89950327 [GRCh38]
Chr6:90660046 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1290C>T (p.Ser430=) single nucleotide variant not provided [RCV002107592] Chr6:89950816 [GRCh38]
Chr6:90660535 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1425C>A (p.Pro475=) single nucleotide variant not provided [RCV002147325] Chr6:89950681 [GRCh38]
Chr6:90660400 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.744C>T (p.His248=) single nucleotide variant not provided [RCV002168593] Chr6:89951362 [GRCh38]
Chr6:90661081 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2241G>A (p.Ala747=) single nucleotide variant not provided [RCV002188280] Chr6:89932693 [GRCh38]
Chr6:90642412 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2334A>G (p.Gly778=) single nucleotide variant not provided [RCV002130127] Chr6:89932600 [GRCh38]
Chr6:90642319 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.455C>T (p.Pro152Leu) single nucleotide variant Immunodeficiency 60 [RCV002208761]|not provided [RCV003089104] Chr6:89951651 [GRCh38]
Chr6:90661370 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.264G>A (p.Gly88=) single nucleotide variant not provided [RCV002112316] Chr6:89951842 [GRCh38]
Chr6:90661561 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1440C>T (p.Tyr480=) single nucleotide variant not provided [RCV002072846] Chr6:89950666 [GRCh38]
Chr6:90660385 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1215C>T (p.Phe405=) single nucleotide variant not provided [RCV002191495] Chr6:89950891 [GRCh38]
Chr6:90660610 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.195G>T (p.Ala65=) single nucleotide variant not provided [RCV002112020] Chr6:90008650 [GRCh38]
Chr6:90718369 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2044-11C>T single nucleotide variant not provided [RCV002148798] Chr6:89932901 [GRCh38]
Chr6:90642620 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2043+8G>A single nucleotide variant not provided [RCV002208512] Chr6:89938136 [GRCh38]
Chr6:90647855 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1514A>G (p.Lys505Arg) single nucleotide variant not provided [RCV002115898] Chr6:89950592 [GRCh38]
Chr6:90660311 [GRCh37]
Chr6:6q15		 benign
NM_021813.4(BACH2):c.911C>T (p.Ala304Val) single nucleotide variant not provided [RCV002214404] Chr6:89951195 [GRCh38]
Chr6:90660914 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2044-21_2044-20del microsatellite not provided [RCV002215413] Chr6:89932910..89932911 [GRCh38]
Chr6:90642629..90642630 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.852T>C (p.Asn284=) single nucleotide variant not provided [RCV002215382] Chr6:89951254 [GRCh38]
Chr6:90660973 [GRCh37]
Chr6:6q15		 benign
NM_021813.4(BACH2):c.138G>A (p.Lys46=) single nucleotide variant not provided [RCV002131470] Chr6:90008707 [GRCh38]
Chr6:90718426 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2418G>C (p.Glu806Asp) single nucleotide variant Immunodeficiency 60 [RCV002500396]|not provided [RCV002186073] Chr6:89932516 [GRCh38]
Chr6:90642235 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2403G>A (p.Pro801=) single nucleotide variant not provided [RCV002097024] Chr6:89932531 [GRCh38]
Chr6:90642250 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.399C>G (p.Leu133=) single nucleotide variant BACH2-related disorder [RCV003933691]|not provided [RCV002208616] Chr6:89951707 [GRCh38]
Chr6:90661426 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1992C>T (p.Arg664=) single nucleotide variant not provided [RCV002080818] Chr6:89938195 [GRCh38]
Chr6:90647914 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2331C>T (p.Pro777=) single nucleotide variant BACH2-related disorder [RCV003903514]|not provided [RCV002133186] Chr6:89932603 [GRCh38]
Chr6:90642322 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2331C>G (p.Pro777=) single nucleotide variant not provided [RCV002108512] Chr6:89932603 [GRCh38]
Chr6:90642322 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1503G>A (p.Pro501=) single nucleotide variant not provided [RCV002071841] Chr6:89950603 [GRCh38]
Chr6:90660322 [GRCh37]
Chr6:6q15		 benign
NM_021813.4(BACH2):c.997A>C (p.Arg333=) single nucleotide variant not provided [RCV002212264] Chr6:89951109 [GRCh38]
Chr6:90660828 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.444G>A (p.Ala148=) single nucleotide variant not provided [RCV002092580] Chr6:89951662 [GRCh38]
Chr6:90661381 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1785G>T (p.Ser595=) single nucleotide variant not provided [RCV002115282] Chr6:89950321 [GRCh38]
Chr6:90660040 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1584C>T (p.Tyr528=) single nucleotide variant not provided [RCV002084825] Chr6:89950522 [GRCh38]
Chr6:90660241 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1224G>T (p.Gly408=) single nucleotide variant not provided [RCV002077754] Chr6:89950882 [GRCh38]
Chr6:90660601 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2280C>T (p.Cys760=) single nucleotide variant not provided [RCV002112897] Chr6:89932654 [GRCh38]
Chr6:90642373 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1560C>G (p.Ser520=) single nucleotide variant not provided [RCV002116416] Chr6:89950546 [GRCh38]
Chr6:90660265 [GRCh37]
Chr6:6q15		 benign
NM_021813.4(BACH2):c.114C>T (p.Asp38=) single nucleotide variant not provided [RCV002150663] Chr6:90008731 [GRCh38]
Chr6:90718450 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.585C>T (p.Ala195=) single nucleotide variant not provided [RCV002193370] Chr6:89951521 [GRCh38]
Chr6:90661240 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.477T>C (p.Ser159=) single nucleotide variant not provided [RCV002077859] Chr6:89951629 [GRCh38]
Chr6:90661348 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2481T>A (p.Thr827=) single nucleotide variant not provided [RCV002151424] Chr6:89932453 [GRCh38]
Chr6:90642172 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1011G>A (p.Ser337=) single nucleotide variant not provided [RCV002197779] Chr6:89951095 [GRCh38]
Chr6:90660814 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1599C>T (p.Ser533=) single nucleotide variant not provided [RCV002103770] Chr6:89950507 [GRCh38]
Chr6:90660226 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2268G>A (p.Ala756=) single nucleotide variant not provided [RCV002156057] Chr6:89932666 [GRCh38]
Chr6:90642385 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1791G>T (p.Ser597=) single nucleotide variant not provided [RCV002159833] Chr6:89950315 [GRCh38]
Chr6:90660034 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.525G>A (p.Thr175=) single nucleotide variant not provided [RCV002175965] Chr6:89951581 [GRCh38]
Chr6:90661300 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2253T>G (p.Ala751=) single nucleotide variant not provided [RCV002099546] Chr6:89932681 [GRCh38]
Chr6:90642400 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1008C>G (p.Ala336=) single nucleotide variant not provided [RCV002101812] Chr6:89951098 [GRCh38]
Chr6:90660817 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1644G>A (p.Ser548=) single nucleotide variant not provided [RCV002143055] Chr6:89950462 [GRCh38]
Chr6:90660181 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.729T>C (p.Tyr243=) single nucleotide variant BACH2-related disorder [RCV003903537]|not provided [RCV002143366] Chr6:89951377 [GRCh38]
Chr6:90661096 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1755T>C (p.Tyr585=) single nucleotide variant not provided [RCV002157524] Chr6:89950351 [GRCh38]
Chr6:90660070 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.954T>C (p.Pro318=) single nucleotide variant not provided [RCV002137156] Chr6:89951152 [GRCh38]
Chr6:90660871 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1977G>A (p.Ala659=) single nucleotide variant not provided [RCV002101663] Chr6:89938210 [GRCh38]
Chr6:90647929 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.582C>T (p.Ala194=) single nucleotide variant not provided [RCV002117702] Chr6:89951524 [GRCh38]
Chr6:90661243 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.452G>C (p.Arg151Pro) single nucleotide variant BACH2-related disorder [RCV003950926]|not provided [RCV002202181] Chr6:89951654 [GRCh38]
Chr6:90661373 [GRCh37]
Chr6:6q15		 benign|likely benign
NM_021813.4(BACH2):c.1383G>A (p.Pro461=) single nucleotide variant not provided [RCV002181272] Chr6:89950723 [GRCh38]
Chr6:90660442 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1944T>C (p.His648=) single nucleotide variant not provided [RCV002154755] Chr6:89938243 [GRCh38]
Chr6:90647962 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.931C>A (p.Arg311=) single nucleotide variant not provided [RCV002203883] Chr6:89951175 [GRCh38]
Chr6:90660894 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1020C>T (p.Cys340=) single nucleotide variant not provided [RCV002122145] Chr6:89951086 [GRCh38]
Chr6:90660805 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1287G>A (p.Arg429=) single nucleotide variant not provided [RCV002178705] Chr6:89950819 [GRCh38]
Chr6:90660538 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2158C>A (p.Pro720Thr) single nucleotide variant not provided [RCV002179180] Chr6:89932776 [GRCh38]
Chr6:90642495 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1311T>C (p.Ala437=) single nucleotide variant not provided [RCV002103207] Chr6:89950795 [GRCh38]
Chr6:90660514 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1791G>A (p.Ser597=) single nucleotide variant BACH2-related disorder [RCV003968797]|not provided [RCV002216572] Chr6:89950315 [GRCh38]
Chr6:90660034 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1065C>A (p.Gly355=) single nucleotide variant not provided [RCV002177400] Chr6:89951041 [GRCh38]
Chr6:90660760 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2319C>T (p.Gly773=) single nucleotide variant not provided [RCV002119883] Chr6:89932615 [GRCh38]
Chr6:90642334 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2499C>T (p.Asp833=) single nucleotide variant not provided [RCV002203407] Chr6:89932435 [GRCh38]
Chr6:90642154 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.330C>T (p.Ile110=) single nucleotide variant not provided [RCV002181521] Chr6:89951776 [GRCh38]
Chr6:90661495 [GRCh37]
Chr6:6q15		 benign
NM_021813.4(BACH2):c.822G>A (p.Gln274=) single nucleotide variant not provided [RCV002219819] Chr6:89951284 [GRCh38]
Chr6:90661003 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2190C>T (p.Cys730=) single nucleotide variant not provided [RCV002163177] Chr6:89932744 [GRCh38]
Chr6:90642463 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2458G>A (p.Val820Met) single nucleotide variant not provided [RCV002219889] Chr6:89932476 [GRCh38]
Chr6:90642195 [GRCh37]
Chr6:6q15		 likely benign
NC_000006.11:g.(?_90642127)_(90648089_?)dup duplication not provided [RCV003109831] Chr6:90642127..90648089 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.796C>T (p.Leu266Phe) single nucleotide variant not provided [RCV003118404] Chr6:89951310 [GRCh38]
Chr6:90661029 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1430C>T (p.Ser477Leu) single nucleotide variant not provided [RCV003115572] Chr6:89950676 [GRCh38]
Chr6:90660395 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1204G>A (p.Val402Met) single nucleotide variant not provided [RCV003118764] Chr6:89950902 [GRCh38]
Chr6:90660621 [GRCh37]
Chr6:6q15		 uncertain significance
GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1 copy number loss See cases [RCV002292710] Chr6:78911022..98909173 [GRCh37]
Chr6:6q14.1-16.1		 uncertain significance
NM_021813.4(BACH2):c.1806G>T (p.Glu602Asp) single nucleotide variant not provided [RCV002297338] Chr6:89950300 [GRCh38]
Chr6:90660019 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1474G>A (p.Gly492Arg) single nucleotide variant not provided [RCV002301086] Chr6:89950632 [GRCh38]
Chr6:90660351 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1643C>T (p.Ser548Leu) single nucleotide variant not provided [RCV002296636] Chr6:89950463 [GRCh38]
Chr6:90660182 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1429T>G (p.Ser477Ala) single nucleotide variant not provided [RCV002302230] Chr6:89950677 [GRCh38]
Chr6:90660396 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.875G>C (p.Cys292Ser) single nucleotide variant not provided [RCV002301359] Chr6:89951231 [GRCh38]
Chr6:90660950 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1018T>A (p.Cys340Ser) single nucleotide variant not provided [RCV003013788] Chr6:89951088 [GRCh38]
Chr6:90660807 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1095C>T (p.Ala365=) single nucleotide variant not provided [RCV003015944] Chr6:89951011 [GRCh38]
Chr6:90660730 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.61A>G (p.Thr21Ala) single nucleotide variant not provided [RCV002686054] Chr6:90008784 [GRCh38]
Chr6:90718503 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.446G>A (p.Cys149Tyr) single nucleotide variant not specified [RCV004086271] Chr6:89951660 [GRCh38]
Chr6:90661379 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2322G>A (p.Ala774=) single nucleotide variant not provided [RCV003095377] Chr6:89932612 [GRCh38]
Chr6:90642331 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1075A>G (p.Thr359Ala) single nucleotide variant not provided [RCV002819545] Chr6:89951031 [GRCh38]
Chr6:90660750 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1756G>A (p.Gly586Arg) single nucleotide variant not provided [RCV002842673] Chr6:89950350 [GRCh38]
Chr6:90660069 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2107T>C (p.Leu703=) single nucleotide variant not provided [RCV002947724] Chr6:89932827 [GRCh38]
Chr6:90642546 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.635T>C (p.Val212Ala) single nucleotide variant not provided [RCV002908114] Chr6:89951471 [GRCh38]
Chr6:90661190 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.254G>A (p.Arg85Lys) single nucleotide variant not provided [RCV002908305] Chr6:89951852 [GRCh38]
Chr6:90661571 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.587C>T (p.Ala196Val) single nucleotide variant not provided [RCV002751073] Chr6:89951519 [GRCh38]
Chr6:90661238 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1837-11C>T single nucleotide variant not provided [RCV002843565] Chr6:89938361 [GRCh38]
Chr6:90648080 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1945G>A (p.Asp649Asn) single nucleotide variant not provided [RCV002996872] Chr6:89938242 [GRCh38]
Chr6:90647961 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2222C>T (p.Ala741Val) single nucleotide variant not provided [RCV002730230] Chr6:89932712 [GRCh38]
Chr6:90642431 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1601G>A (p.Gly534Glu) single nucleotide variant not specified [RCV004119794] Chr6:89950505 [GRCh38]
Chr6:90660224 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1074T>A (p.Ser358Arg) single nucleotide variant not provided [RCV003016292] Chr6:89951032 [GRCh38]
Chr6:90660751 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2161G>A (p.Glu721Lys) single nucleotide variant not provided [RCV002750853] Chr6:89932773 [GRCh38]
Chr6:90642492 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1461C>G (p.Ala487=) single nucleotide variant not provided [RCV002863712] Chr6:89950645 [GRCh38]
Chr6:90660364 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.243+13G>T single nucleotide variant not provided [RCV003013510] Chr6:90008589 [GRCh38]
Chr6:90718308 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.469G>A (p.Glu157Lys) single nucleotide variant not provided [RCV002908253]|not specified [RCV004066085] Chr6:89951637 [GRCh38]
Chr6:90661356 [GRCh37]
Chr6:6q15		 conflicting interpretations of pathogenicity|uncertain significance
NM_021813.4(BACH2):c.1997G>A (p.Arg666Lys) single nucleotide variant not provided [RCV002819897] Chr6:89938190 [GRCh38]
Chr6:90647909 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1302C>T (p.Ser434=) single nucleotide variant not provided [RCV002613394] Chr6:89950804 [GRCh38]
Chr6:90660523 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2385A>G (p.Arg795=) single nucleotide variant not provided [RCV002996095] Chr6:89932549 [GRCh38]
Chr6:90642268 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2320G>A (p.Ala774Thr) single nucleotide variant not provided [RCV002953255] Chr6:89932614 [GRCh38]
Chr6:90642333 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1593C>T (p.Asp531=) single nucleotide variant not provided [RCV003081622] Chr6:89950513 [GRCh38]
Chr6:90660232 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1921T>G (p.Ser641Ala) single nucleotide variant not provided [RCV002662627] Chr6:89938266 [GRCh38]
Chr6:90647985 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2332G>A (p.Gly778Arg) single nucleotide variant not provided [RCV003079530]|not specified [RCV004071833] Chr6:89932602 [GRCh38]
Chr6:90642321 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1837-20T>C single nucleotide variant not provided [RCV002622800] Chr6:89938370 [GRCh38]
Chr6:90648089 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2335C>T (p.Pro779Ser) single nucleotide variant not provided [RCV002825202] Chr6:89932599 [GRCh38]
Chr6:90642318 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2520T>C (p.Tyr840=) single nucleotide variant not provided [RCV002846786] Chr6:89932414 [GRCh38]
Chr6:90642133 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1434G>A (p.Gln478=) single nucleotide variant not provided [RCV002795591] Chr6:89950672 [GRCh38]
Chr6:90660391 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2019T>C (p.Asn673=) single nucleotide variant not provided [RCV002740021] Chr6:89938168 [GRCh38]
Chr6:90647887 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1107C>T (p.Ala369=) single nucleotide variant not provided [RCV003053637] Chr6:89950999 [GRCh38]
Chr6:90660718 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.321C>G (p.Arg107=) single nucleotide variant not provided [RCV002639256] Chr6:89951785 [GRCh38]
Chr6:90661504 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.731A>G (p.Asn244Ser) single nucleotide variant not provided [RCV002638859] Chr6:89951375 [GRCh38]
Chr6:90661094 [GRCh37]
Chr6:6q15		 conflicting interpretations of pathogenicity|uncertain significance
NM_021813.4(BACH2):c.1002C>T (p.Ser334=) single nucleotide variant not provided [RCV002570135] Chr6:89951104 [GRCh38]
Chr6:90660823 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.888T>C (p.Asp296=) single nucleotide variant not provided [RCV003055098] Chr6:89951218 [GRCh38]
Chr6:90660937 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.393C>G (p.Thr131=) single nucleotide variant not provided [RCV002639255] Chr6:89951713 [GRCh38]
Chr6:90661432 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1154A>G (p.Tyr385Cys) single nucleotide variant not provided [RCV003079319] Chr6:89950952 [GRCh38]
Chr6:90660671 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1025G>A (p.Arg342Lys) single nucleotide variant not provided [RCV002700126] Chr6:89951081 [GRCh38]
Chr6:90660800 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1134G>A (p.Gln378=) single nucleotide variant not provided [RCV002894488] Chr6:89950972 [GRCh38]
Chr6:90660691 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2306G>A (p.Cys769Tyr) single nucleotide variant not provided [RCV002957822] Chr6:89932628 [GRCh38]
Chr6:90642347 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1235G>A (p.Arg412Lys) single nucleotide variant not provided [RCV003043582] Chr6:89950871 [GRCh38]
Chr6:90660590 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1748A>G (p.Gln583Arg) single nucleotide variant not provided [RCV003025160] Chr6:89950358 [GRCh38]
Chr6:90660077 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2308T>C (p.Leu770=) single nucleotide variant not provided [RCV002805732] Chr6:89932626 [GRCh38]
Chr6:90642345 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1446C>T (p.His482=) single nucleotide variant not provided [RCV002625430] Chr6:89950660 [GRCh38]
Chr6:90660379 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.969A>G (p.Pro323=) single nucleotide variant not provided [RCV003040529] Chr6:89951137 [GRCh38]
Chr6:90660856 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1155C>T (p.Tyr385=) single nucleotide variant not provided [RCV003082673] Chr6:89950951 [GRCh38]
Chr6:90660670 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2392G>T (p.Gly798Cys) single nucleotide variant not provided [RCV002642232] Chr6:89932542 [GRCh38]
Chr6:90642261 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1857A>G (p.Val619=) single nucleotide variant not provided [RCV002595699] Chr6:89938330 [GRCh38]
Chr6:90648049 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.963G>A (p.Thr321=) single nucleotide variant not provided [RCV002625995] Chr6:89951143 [GRCh38]
Chr6:90660862 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.243+5A>G single nucleotide variant not provided [RCV002595035] Chr6:90008597 [GRCh38]
Chr6:90718316 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1935G>A (p.Glu645=) single nucleotide variant not provided [RCV002852078] Chr6:89938252 [GRCh38]
Chr6:90647971 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1525C>T (p.Arg509Cys) single nucleotide variant not provided [RCV002667843] Chr6:89950581 [GRCh38]
Chr6:90660300 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2321C>T (p.Ala774Val) single nucleotide variant not provided [RCV003082859] Chr6:89932613 [GRCh38]
Chr6:90642332 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.961A>C (p.Thr321Pro) single nucleotide variant not specified [RCV004231488] Chr6:89951145 [GRCh38]
Chr6:90660864 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1382C>T (p.Pro461Leu) single nucleotide variant not provided [RCV003085032]|not specified [RCV004073257] Chr6:89950724 [GRCh38]
Chr6:90660443 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.154C>A (p.Arg52=) single nucleotide variant not provided [RCV003024658] Chr6:90008691 [GRCh38]
Chr6:90718410 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.727T>C (p.Tyr243His) single nucleotide variant not provided [RCV003059444] Chr6:89951379 [GRCh38]
Chr6:90661098 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1411G>C (p.Gly471Arg) single nucleotide variant not provided [RCV002667296] Chr6:89950695 [GRCh38]
Chr6:90660414 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.24C>T (p.Asp8=) single nucleotide variant not provided [RCV003057620] Chr6:90008821 [GRCh38]
Chr6:90718540 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2182C>T (p.Arg728Trp) single nucleotide variant not provided [RCV002595794] Chr6:89932752 [GRCh38]
Chr6:90642471 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2469C>T (p.Cys823=) single nucleotide variant not provided [RCV003057717] Chr6:89932465 [GRCh38]
Chr6:90642184 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.818G>C (p.Gly273Ala) single nucleotide variant not provided [RCV003046225] Chr6:89951288 [GRCh38]
Chr6:90661007 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.524C>T (p.Thr175Met) single nucleotide variant not provided [RCV002651293] Chr6:89951582 [GRCh38]
Chr6:90661301 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1043C>T (p.Thr348Met) single nucleotide variant not provided [RCV002633107] Chr6:89951063 [GRCh38]
Chr6:90660782 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.482G>A (p.Gly161Glu) single nucleotide variant not provided [RCV002580197] Chr6:89951624 [GRCh38]
Chr6:90661343 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2339_2349del (p.Pro780fs) deletion not provided [RCV002721221] Chr6:89932585..89932595 [GRCh38]
Chr6:90642304..90642314 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2263A>C (p.Ile755Leu) single nucleotide variant not specified [RCV004135147] Chr6:89932671 [GRCh38]
Chr6:90642390 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2199C>G (p.Leu733=) single nucleotide variant not provided [RCV002938777] Chr6:89932735 [GRCh38]
Chr6:90642454 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.163C>T (p.Leu55=) single nucleotide variant not provided [RCV002581787] Chr6:90008682 [GRCh38]
Chr6:90718401 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1534C>A (p.Pro512Thr) single nucleotide variant Primary ciliary dyskinesia 3 [RCV003234804]|not provided [RCV002581703]|not specified [RCV004073357] Chr6:89950572 [GRCh38]
Chr6:90660291 [GRCh37]
Chr6:6q15		 pathogenic|uncertain significance
NM_021813.4(BACH2):c.2136A>G (p.Glu712=) single nucleotide variant not provided [RCV002834271] Chr6:89932798 [GRCh38]
Chr6:90642517 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.28C>T (p.Pro10Ser) single nucleotide variant not provided [RCV003046672] Chr6:90008817 [GRCh38]
Chr6:90718536 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2027G>A (p.Cys676Tyr) single nucleotide variant not provided [RCV002578194]|not specified [RCV004064528] Chr6:89938160 [GRCh38]
Chr6:90647879 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.350G>A (p.Arg117His) single nucleotide variant not provided [RCV002672139] Chr6:89951756 [GRCh38]
Chr6:90661475 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.838C>A (p.Pro280Thr) single nucleotide variant not provided [RCV002671631] Chr6:89951268 [GRCh38]
Chr6:90660987 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2048G>A (p.Cys683Tyr) single nucleotide variant not provided [RCV002715205] Chr6:89932886 [GRCh38]
Chr6:90642605 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.912G>A (p.Ala304=) single nucleotide variant not provided [RCV003087334] Chr6:89951194 [GRCh38]
Chr6:90660913 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.913G>A (p.Gly305Arg) single nucleotide variant not provided [RCV002938449] Chr6:89951193 [GRCh38]
Chr6:90660912 [GRCh37]
Chr6:6q15		 likely benign|uncertain significance
NM_021813.4(BACH2):c.1935G>T (p.Glu645Asp) single nucleotide variant not provided [RCV002647568] Chr6:89938252 [GRCh38]
Chr6:90647971 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2366A>C (p.Asn789Thr) single nucleotide variant not provided [RCV002628618]|not specified [RCV004070718] Chr6:89932568 [GRCh38]
Chr6:90642287 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.897C>T (p.Asp299=) single nucleotide variant not provided [RCV003086076] Chr6:89951209 [GRCh38]
Chr6:90660928 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1402G>T (p.Val468Leu) single nucleotide variant BACH2-related disorder [RCV003403927]|not provided [RCV002811784] Chr6:89950704 [GRCh38]
Chr6:90660423 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1219A>G (p.Met407Val) single nucleotide variant not provided [RCV002811208] Chr6:89950887 [GRCh38]
Chr6:90660606 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.625G>A (p.Glu209Lys) single nucleotide variant not provided [RCV002675993] Chr6:89951481 [GRCh38]
Chr6:90661200 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.946C>T (p.Pro316Ser) single nucleotide variant not provided [RCV002717174] Chr6:89951160 [GRCh38]
Chr6:90660879 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1837-5T>A single nucleotide variant not provided [RCV003029414] Chr6:89938355 [GRCh38]
Chr6:90648074 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1325G>A (p.Ser442Asn) single nucleotide variant not provided [RCV002604324] Chr6:89950781 [GRCh38]
Chr6:90660500 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2044-4C>T single nucleotide variant not provided [RCV003052035] Chr6:89932894 [GRCh38]
Chr6:90642613 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2340C>T (p.Pro780=) single nucleotide variant not provided [RCV002653849] Chr6:89932594 [GRCh38]
Chr6:90642313 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.320G>A (p.Arg107His) single nucleotide variant not provided [RCV002658314] Chr6:89951786 [GRCh38]
Chr6:90661505 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.418C>G (p.Leu140Val) single nucleotide variant not provided [RCV002944255] Chr6:89951688 [GRCh38]
Chr6:90661407 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.677C>T (p.Thr226Met) single nucleotide variant not provided [RCV002610240] Chr6:89951429 [GRCh38]
Chr6:90661148 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.922G>A (p.Glu308Lys) single nucleotide variant not provided [RCV002604228] Chr6:89951184 [GRCh38]
Chr6:90660903 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2044-7T>C single nucleotide variant not provided [RCV002613109] Chr6:89932897 [GRCh38]
Chr6:90642616 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1189G>C (p.Val397Leu) single nucleotide variant not provided [RCV002587885]|not specified [RCV004614363] Chr6:89950917 [GRCh38]
Chr6:90660636 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.979G>A (p.Ala327Thr) single nucleotide variant not provided [RCV002612359] Chr6:89951127 [GRCh38]
Chr6:90660846 [GRCh37]
Chr6:6q15		 conflicting interpretations of pathogenicity|uncertain significance
NM_021813.4(BACH2):c.2458G>C (p.Val820Leu) single nucleotide variant not specified [RCV004131625] Chr6:89932476 [GRCh38]
Chr6:90642195 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2338C>T (p.Pro780Ser) single nucleotide variant not specified [RCV004280505] Chr6:89932596 [GRCh38]
Chr6:90642315 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.140A>C (p.Glu47Ala) single nucleotide variant not specified [RCV004327097] Chr6:90008705 [GRCh38]
Chr6:90718424 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1134G>C (p.Gln378His) single nucleotide variant Immunodeficiency 60 [RCV003142244] Chr6:89950972 [GRCh38]
Chr6:90660691 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.801G>T (p.Lys267Asn) single nucleotide variant Immunodeficiency 60 [RCV003142417] Chr6:89951305 [GRCh38]
Chr6:90661024 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1043C>A (p.Thr348Lys) single nucleotide variant not specified [RCV004270510] Chr6:89951063 [GRCh38]
Chr6:90660782 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2416G>C (p.Glu806Gln) single nucleotide variant Immunodeficiency 60 [RCV003448823] Chr6:89932518 [GRCh38]
Chr6:90642237 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.124A>G (p.Ile42Val) single nucleotide variant not provided [RCV003872633] Chr6:90008721 [GRCh38]
Chr6:90718440 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1427G>T (p.Ser476Ile) single nucleotide variant Immunodeficiency 60 [RCV003333825]|not provided [RCV003720850]|not specified [RCV004334120] Chr6:89950679 [GRCh38]
Chr6:90660398 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1354A>G (p.Ser452Gly) single nucleotide variant not specified [RCV004358116] Chr6:89950752 [GRCh38]
Chr6:90660471 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.870G>A (p.Thr290=) single nucleotide variant not provided [RCV003569450] Chr6:89951236 [GRCh38]
Chr6:90660955 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2326C>G (p.Pro776Ala) single nucleotide variant not provided [RCV003873036] Chr6:89932608 [GRCh38]
Chr6:90642327 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1394_1402del (p.Gly465_Trp467del) deletion not provided [RCV003543700] Chr6:89950704..89950712 [GRCh38]
Chr6:90660423..90660431 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1122G>A (p.Lys374=) single nucleotide variant not provided [RCV003875652] Chr6:89950984 [GRCh38]
Chr6:90660703 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1669C>A (p.Leu557Ile) single nucleotide variant not provided [RCV003571128] Chr6:89950437 [GRCh38]
Chr6:90660156 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2289G>A (p.Gly763=) single nucleotide variant not provided [RCV003712579] Chr6:89932645 [GRCh38]
Chr6:90642364 [GRCh37]
Chr6:6q15		 likely benign
GRCh37/hg19 6q15-16.1(chr6:88018122-94565168)x1 copy number loss not provided [RCV003482926] Chr6:88018122..94565168 [GRCh37]
Chr6:6q15-16.1		 pathogenic
GRCh37/hg19 6q15(chr6:90774790-91298146)x3 copy number gain not provided [RCV003484644] Chr6:90774790..91298146 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.909A>G (p.Arg303=) single nucleotide variant not provided [RCV003431955] Chr6:89951197 [GRCh38]
Chr6:90660916 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1411G>A (p.Gly471Ser) single nucleotide variant BACH2-related disorder [RCV003399837]|not provided [RCV003778201] Chr6:89950695 [GRCh38]
Chr6:90660414 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1629T>C (p.Cys543=) single nucleotide variant not provided [RCV003428899] Chr6:89950477 [GRCh38]
Chr6:90660196 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.-13+50T>C single nucleotide variant not specified [RCV003489015] Chr6:90088911 [GRCh38]
Chr6:90798630 [GRCh37]
Chr6:6q15		 benign
NM_021813.4(BACH2):c.2043+104C>G single nucleotide variant not specified [RCV003391184] Chr6:89938040 [GRCh38]
Chr6:90647759 [GRCh37]
Chr6:6q15		 benign
NM_021813.4(BACH2):c.1980C>T (p.Ala660=) single nucleotide variant not provided [RCV003428898] Chr6:89938207 [GRCh38]
Chr6:90647926 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.215A>C (p.Asn72Thr) single nucleotide variant not provided [RCV003431957] Chr6:90008630 [GRCh38]
Chr6:90718349 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.644A>C (p.Asp215Ala) single nucleotide variant not provided [RCV003431956] Chr6:89951462 [GRCh38]
Chr6:90661181 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.931C>T (p.Arg311Trp) single nucleotide variant BACH2-related disorder [RCV003414137]|not provided [RCV003778199] Chr6:89951175 [GRCh38]
Chr6:90660894 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.837G>A (p.Pro279=) single nucleotide variant not provided [RCV003828338] Chr6:89951269 [GRCh38]
Chr6:90660988 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.230G>C (p.Ser77Thr) single nucleotide variant not provided [RCV003829931]|not specified [RCV004366826] Chr6:90008615 [GRCh38]
Chr6:90718334 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.878T>G (p.Leu293Arg) single nucleotide variant not provided [RCV003716410] Chr6:89951228 [GRCh38]
Chr6:90660947 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2386C>G (p.Leu796Val) single nucleotide variant not provided [RCV003849191] Chr6:89932548 [GRCh38]
Chr6:90642267 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1785G>A (p.Ser595=) single nucleotide variant not provided [RCV003827907] Chr6:89950321 [GRCh38]
Chr6:90660040 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.746G>A (p.Ser249Asn) single nucleotide variant not provided [RCV003824502] Chr6:89951360 [GRCh38]
Chr6:90661079 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1578T>C (p.Tyr526=) single nucleotide variant not provided [RCV003572918] Chr6:89950528 [GRCh38]
Chr6:90660247 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.678G>A (p.Thr226=) single nucleotide variant not provided [RCV003879041] Chr6:89951428 [GRCh38]
Chr6:90661147 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1153T>G (p.Tyr385Asp) single nucleotide variant not provided [RCV003573033] Chr6:89950953 [GRCh38]
Chr6:90660672 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1530A>C (p.Ser510=) single nucleotide variant not provided [RCV003690951] Chr6:89950576 [GRCh38]
Chr6:90660295 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2411T>C (p.Phe804Ser) single nucleotide variant not provided [RCV003661409] Chr6:89932523 [GRCh38]
Chr6:90642242 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2505G>A (p.Gln835=) single nucleotide variant not provided [RCV003549109]|not specified [RCV003489589] Chr6:89932429 [GRCh38]
Chr6:90642148 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1371C>G (p.Asp457Glu) single nucleotide variant not provided [RCV003738723] Chr6:89950735 [GRCh38]
Chr6:90660454 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1170G>T (p.Gly390=) single nucleotide variant not provided [RCV003544661] Chr6:89950936 [GRCh38]
Chr6:90660655 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1059G>A (p.Leu353=) single nucleotide variant not provided [RCV003544692] Chr6:89951047 [GRCh38]
Chr6:90660766 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.-13+26030T>G single nucleotide variant not specified [RCV003489251] Chr6:90062931 [GRCh38]
Chr6:90772650 [GRCh37]
Chr6:6q15		 benign
NM_021813.4(BACH2):c.2191C>T (p.Pro731Ser) single nucleotide variant not provided [RCV003877939] Chr6:89932743 [GRCh38]
Chr6:90642462 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1352T>C (p.Val451Ala) single nucleotide variant not provided [RCV003545235] Chr6:89950754 [GRCh38]
Chr6:90660473 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.146G>C (p.Arg49Pro) single nucleotide variant not provided [RCV003543985] Chr6:90008699 [GRCh38]
Chr6:90718418 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1778C>A (p.Ser593Tyr) single nucleotide variant not provided [RCV003695243] Chr6:89950328 [GRCh38]
Chr6:90660047 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.586G>A (p.Ala196Thr) single nucleotide variant not provided [RCV003739740] Chr6:89951520 [GRCh38]
Chr6:90661239 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.240G>A (p.Glu80=) single nucleotide variant not provided [RCV003880454] Chr6:90008605 [GRCh38]
Chr6:90718324 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2511G>A (p.Arg837=) single nucleotide variant not provided [RCV003713580] Chr6:89932423 [GRCh38]
Chr6:90642142 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2323G>A (p.Ala775Thr) single nucleotide variant not provided [RCV003686652] Chr6:89932611 [GRCh38]
Chr6:90642330 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2424A>G (p.Gly808=) single nucleotide variant not provided [RCV003574581] Chr6:89932510 [GRCh38]
Chr6:90642229 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.309A>T (p.Arg103Ser) single nucleotide variant not provided [RCV003693022] Chr6:89951797 [GRCh38]
Chr6:90661516 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1815T>G (p.Pro605=) single nucleotide variant not provided [RCV003572624] Chr6:89950291 [GRCh38]
Chr6:90660010 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2039A>G (p.Lys680Arg) single nucleotide variant not provided [RCV003661669] Chr6:89938148 [GRCh38]
Chr6:90647867 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1726C>G (p.Arg576Gly) single nucleotide variant not provided [RCV003547828] Chr6:89950380 [GRCh38]
Chr6:90660099 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.595G>A (p.Val199Ile) single nucleotide variant not provided [RCV003882129] Chr6:89951511 [GRCh38]
Chr6:90661230 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1836+12A>C single nucleotide variant not provided [RCV003693728] Chr6:89950258 [GRCh38]
Chr6:90659977 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1948G>A (p.Val650Ile) single nucleotide variant not provided [RCV003693744] Chr6:89938239 [GRCh38]
Chr6:90647958 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.974G>A (p.Gly325Glu) single nucleotide variant not provided [RCV003545762] Chr6:89951132 [GRCh38]
Chr6:90660851 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1444C>T (p.His482Tyr) single nucleotide variant not provided [RCV003575598] Chr6:89950662 [GRCh38]
Chr6:90660381 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1206G>A (p.Val402=) single nucleotide variant not provided [RCV003826055] Chr6:89950900 [GRCh38]
Chr6:90660619 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2445C>T (p.Ser815=) single nucleotide variant not provided [RCV003545178] Chr6:89932489 [GRCh38]
Chr6:90642208 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2339C>T (p.Pro780Leu) single nucleotide variant not provided [RCV003824446] Chr6:89932595 [GRCh38]
Chr6:90642314 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2228G>C (p.Ser743Thr) single nucleotide variant not provided [RCV003878275] Chr6:89932706 [GRCh38]
Chr6:90642425 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2235C>T (p.Asn745=) single nucleotide variant not provided [RCV003835815] Chr6:89932699 [GRCh38]
Chr6:90642418 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1032G>C (p.Leu344=) single nucleotide variant not provided [RCV003697680] Chr6:89951074 [GRCh38]
Chr6:90660793 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.963G>T (p.Thr321=) single nucleotide variant not provided [RCV003672607] Chr6:89951143 [GRCh38]
Chr6:90660862 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1913A>G (p.Lys638Arg) single nucleotide variant not provided [RCV003839186] Chr6:89938274 [GRCh38]
Chr6:90647993 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1304C>T (p.Ser435Phe) single nucleotide variant not provided [RCV003697636] Chr6:89950802 [GRCh38]
Chr6:90660521 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.340G>C (p.Glu114Gln) single nucleotide variant not provided [RCV003561628] Chr6:89951766 [GRCh38]
Chr6:90661485 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1885G>A (p.Asp629Asn) single nucleotide variant not provided [RCV003815906] Chr6:89938302 [GRCh38]
Chr6:90648021 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.782A>G (p.Asn261Ser) single nucleotide variant not provided [RCV003838861] Chr6:89951324 [GRCh38]
Chr6:90661043 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1536C>T (p.Pro512=) single nucleotide variant not provided [RCV003671505] Chr6:89950570 [GRCh38]
Chr6:90660289 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.932G>A (p.Arg311Gln) single nucleotide variant not provided [RCV003559190]|not specified [RCV004604969] Chr6:89951174 [GRCh38]
Chr6:90660893 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1348G>T (p.Gly450Trp) single nucleotide variant not provided [RCV003836815] Chr6:89950758 [GRCh38]
Chr6:90660477 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2331dup (p.Gly778fs) duplication not provided [RCV003817550] Chr6:89932602..89932603 [GRCh38]
Chr6:90642321..90642322 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1021T>C (p.Leu341=) single nucleotide variant not provided [RCV003671081] Chr6:89951085 [GRCh38]
Chr6:90660804 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1375T>C (p.Ser459Pro) single nucleotide variant not provided [RCV003811738] Chr6:89950731 [GRCh38]
Chr6:90660450 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.959C>G (p.Pro320Arg) single nucleotide variant not provided [RCV003835750] Chr6:89951147 [GRCh38]
Chr6:90660866 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2175C>A (p.Ala725=) single nucleotide variant not provided [RCV003659282] Chr6:89932759 [GRCh38]
Chr6:90642478 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1560C>T (p.Ser520=) single nucleotide variant not provided [RCV003699790] Chr6:89950546 [GRCh38]
Chr6:90660265 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.584C>T (p.Ala195Val) single nucleotide variant not provided [RCV003671644] Chr6:89951522 [GRCh38]
Chr6:90661241 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.267G>A (p.Pro89=) single nucleotide variant not provided [RCV003842670] Chr6:89951839 [GRCh38]
Chr6:90661558 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.305G>A (p.Ser102Asn) single nucleotide variant not provided [RCV003845792] Chr6:89951801 [GRCh38]
Chr6:90661520 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.254G>C (p.Arg85Thr) single nucleotide variant not provided [RCV003732779] Chr6:89951852 [GRCh38]
Chr6:90661571 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.388C>A (p.Gln130Lys) single nucleotide variant not provided [RCV003857193] Chr6:89951718 [GRCh38]
Chr6:90661437 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.921C>T (p.Val307=) single nucleotide variant not provided [RCV003861825] Chr6:89951185 [GRCh38]
Chr6:90660904 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.773G>A (p.Arg258Gln) single nucleotide variant not provided [RCV003819927]|not specified [RCV004366749] Chr6:89951333 [GRCh38]
Chr6:90661052 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.943A>G (p.Ser315Gly) single nucleotide variant not provided [RCV003677899] Chr6:89951163 [GRCh38]
Chr6:90660882 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1227G>A (p.Ser409=) single nucleotide variant not provided [RCV003858838] Chr6:89950879 [GRCh38]
Chr6:90660598 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2337C>A (p.Pro779=) single nucleotide variant not provided [RCV003704483] Chr6:89932597 [GRCh38]
Chr6:90642316 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.408T>C (p.Ser136=) single nucleotide variant not provided [RCV003852971] Chr6:89951698 [GRCh38]
Chr6:90661417 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1970G>T (p.Arg657Leu) single nucleotide variant not provided [RCV003542025] Chr6:89938217 [GRCh38]
Chr6:90647936 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1848T>C (p.Pro616=) single nucleotide variant not provided [RCV003728144] Chr6:89938339 [GRCh38]
Chr6:90648058 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.530A>G (p.Lys177Arg) single nucleotide variant not provided [RCV003729483] Chr6:89951576 [GRCh38]
Chr6:90661295 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1105G>C (p.Ala369Pro) single nucleotide variant not provided [RCV003680704] Chr6:89951001 [GRCh38]
Chr6:90660720 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1732C>A (p.Gln578Lys) single nucleotide variant not provided [RCV003712170] Chr6:89950374 [GRCh38]
Chr6:90660093 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.914G>A (p.Gly305Glu) single nucleotide variant not provided [RCV003856986] Chr6:89951192 [GRCh38]
Chr6:90660911 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.979G>C (p.Ala327Pro) single nucleotide variant not provided [RCV003711013] Chr6:89951127 [GRCh38]
Chr6:90660846 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1427G>A (p.Ser476Asn) single nucleotide variant not provided [RCV003861060] Chr6:89950679 [GRCh38]
Chr6:90660398 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2522C>G (p.Thr841Ser) single nucleotide variant not provided [RCV003737192] Chr6:89932412 [GRCh38]
Chr6:90642131 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.835C>A (p.Pro279Thr) single nucleotide variant not provided [RCV003685280] Chr6:89951271 [GRCh38]
Chr6:90660990 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.803C>T (p.Pro268Leu) single nucleotide variant not provided [RCV003737482] Chr6:89951303 [GRCh38]
Chr6:90661022 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.590T>A (p.Ile197Asn) single nucleotide variant not provided [RCV003866886] Chr6:89951516 [GRCh38]
Chr6:90661235 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.856G>A (p.Glu286Lys) single nucleotide variant not provided [RCV003869385] Chr6:89951250 [GRCh38]
Chr6:90660969 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1308C>T (p.Ser436=) single nucleotide variant not provided [RCV003841015] Chr6:89950798 [GRCh38]
Chr6:90660517 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.736TCA[1] (p.Ser247del) microsatellite not provided [RCV003566949] Chr6:89951365..89951367 [GRCh38]
Chr6:90661084..90661086 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.372C>T (p.Ser124=) single nucleotide variant not provided [RCV003721340] Chr6:89951734 [GRCh38]
Chr6:90661453 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1994A>G (p.Lys665Arg) single nucleotide variant not provided [RCV003711419] Chr6:89938193 [GRCh38]
Chr6:90647912 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.498A>G (p.Glu166=) single nucleotide variant not provided [RCV003557348] Chr6:89951608 [GRCh38]
Chr6:90661327 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1259G>C (p.Cys420Ser) single nucleotide variant not provided [RCV003869874] Chr6:89950847 [GRCh38]
Chr6:90660566 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2301C>G (p.Pro767=) single nucleotide variant not provided [RCV003682552] Chr6:89932633 [GRCh38]
Chr6:90642352 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.621G>T (p.Leu207=) single nucleotide variant not provided [RCV003853234] Chr6:89951485 [GRCh38]
Chr6:90661204 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2144G>A (p.Arg715Gln) single nucleotide variant not provided [RCV003720487] Chr6:89932790 [GRCh38]
Chr6:90642509 [GRCh37]
Chr6:6q15		 uncertain significance
GRCh37/hg19 6q15(chr6:90131062-90675512)x3 copy number gain not specified [RCV003986672] Chr6:90131062..90675512 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.171A>G (p.Ala57=) single nucleotide variant not provided [RCV003862195] Chr6:90008674 [GRCh38]
Chr6:90718393 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.781A>G (p.Asn261Asp) single nucleotide variant not provided [RCV003843136] Chr6:89951325 [GRCh38]
Chr6:90661044 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1294A>G (p.Ile432Val) single nucleotide variant not provided [RCV003705318] Chr6:89950812 [GRCh38]
Chr6:90660531 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.631G>A (p.Asp211Asn) single nucleotide variant not provided [RCV003563608] Chr6:89951475 [GRCh38]
Chr6:90661194 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1420C>G (p.Leu474Val) single nucleotide variant not provided [RCV003846940] Chr6:89950686 [GRCh38]
Chr6:90660405 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.594C>T (p.Pro198=) single nucleotide variant not provided [RCV003843712] Chr6:89951512 [GRCh38]
Chr6:90661231 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1499G>T (p.Cys500Phe) single nucleotide variant not provided [RCV003680265] Chr6:89950607 [GRCh38]
Chr6:90660326 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2043+11C>T single nucleotide variant not provided [RCV003843800] Chr6:89938133 [GRCh38]
Chr6:90647852 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.742C>G (p.His248Asp) single nucleotide variant not specified [RCV004423703] Chr6:89951364 [GRCh38]
Chr6:90661083 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.589A>G (p.Ile197Val) single nucleotide variant BACH2-related disorder [RCV003907281] Chr6:89951517 [GRCh38]
Chr6:90661236 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1481T>C (p.Met494Thr) single nucleotide variant not specified [RCV004423701] Chr6:89950625 [GRCh38]
Chr6:90660344 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.*10T>A single nucleotide variant BACH2-related disorder [RCV003937364] Chr6:89932398 [GRCh38]
Chr6:90642117 [GRCh37]
Chr6:6q15		 benign
NM_021813.4(BACH2):c.*7G>A single nucleotide variant BACH2-related disorder [RCV003924273] Chr6:89932401 [GRCh38]
Chr6:90642120 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.969A>C (p.Pro323=) single nucleotide variant BACH2-related disorder [RCV003913840] Chr6:89951137 [GRCh38]
Chr6:90660856 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1009T>C (p.Ser337Pro) single nucleotide variant BACH2-related disorder [RCV003901523] Chr6:89951097 [GRCh38]
Chr6:90660816 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1649G>T (p.Cys550Phe) single nucleotide variant Immunodeficiency 60 [RCV004566608] Chr6:89950457 [GRCh38]
Chr6:90660176 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1760C>A (p.Thr587Asn) single nucleotide variant not specified [RCV004606925] Chr6:89950346 [GRCh38]
Chr6:90660065 [GRCh37]
Chr6:6q15		 uncertain significance
NC_000006.11:g.(?_90518279)_(91296602_?)del deletion not provided [RCV004578882] Chr6:90518279..91296602 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1475G>T (p.Gly492Val) single nucleotide variant not specified [RCV004603739] Chr6:89950631 [GRCh38]
Chr6:90660350 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1512C>G (p.Ile504Met) single nucleotide variant not specified [RCV004603718] Chr6:89950594 [GRCh38]
Chr6:90660313 [GRCh37]
Chr6:6q15		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7385
Count of miRNA genes:1320
Interacting mature miRNAs:1693
Transcripts:ENST00000257749, ENST00000343122, ENST00000406998, ENST00000453877, ENST00000470301, ENST00000472023, ENST00000481150, ENST00000493201, ENST00000494747, ENST00000537989
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407159109GWAS808085_HS-7-hydroxywarfarin to S-warfarin ratio measurement QTL GWAS808085 (human)4e-08S-7-hydroxywarfarin to S-warfarin ratio measurement69028860390288604Human
407280706GWAS929682_Htype 1 diabetes mellitus QTL GWAS929682 (human)2e-09type 1 diabetes mellitus69015515190155152Human
407366722GWAS1015698_Hlymphocyte count QTL GWAS1015698 (human)4e-14lymphocyte countblood lymphocyte count (CMO:0000031)69026704990267050Human
407008581GWAS657557_Hbasal cell carcinoma QTL GWAS657557 (human)4e-24basal cell carcinoma69029602490296025Human
407300174GWAS949150_Hasthma, age at onset QTL GWAS949150 (human)0.0000003asthma, age at onset69027547990275480Human
407006280GWAS655256_Hlymphocyte count QTL GWAS655256 (human)4e-41lymphocyte countblood lymphocyte count (CMO:0000031)69026704990267050Human
407392324GWAS1041300_Hurate measurement, bone density QTL GWAS1041300 (human)7e-11bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)69002819790028198Human
406962765GWAS611741_Hthyroid peroxidase antibody measurement QTL GWAS611741 (human)4e-08thyroid peroxidase antibody measurement69017067490170675Human
407381316GWAS1030292_Hrheumatoid arthritis QTL GWAS1030292 (human)1e-08rheumatoid arthritis69026704990267050Human
407364170GWAS1013146_Heducational attainment QTL GWAS1013146 (human)0.000002educational attainment69009729890097299Human
407017804GWAS666780_Hcentral nervous system non-hodgkin lymphoma QTL GWAS666780 (human)0.0000001central nervous system non-hodgkin lymphoma69021689390216894Human
407300681GWAS949657_Hasthma, age at onset QTL GWAS949657 (human)0.0000003asthma, age at onset69026689090266891Human
407128149GWAS777125_Htype 1 diabetes mellitus QTL GWAS777125 (human)5e-12type 1 diabetes mellitus69024851290248513Human
406970963GWAS619939_Hbasophil count, eosinophil count QTL GWAS619939 (human)1e-28eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)69023511290235113Human
406927701GWAS576677_Hinflammatory bowel disease QTL GWAS576677 (human)2e-09inflammatory bowel disease69026344090263441Human
406960980GWAS609956_Hleukocyte count QTL GWAS609956 (human)1e-09leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)69029161390291614Human
407045716GWAS694692_Hmetabolic rate measurement QTL GWAS694692 (human)0.000003metabolic rate measurementmetabolic rate (CMO:0003956)68997174789971748Human
407386450GWAS1035426_Hsquamous cell carcinoma QTL GWAS1035426 (human)2e-33squamous cell carcinoma69026704990267050Human
406911068GWAS560044_Hbody height QTL GWAS560044 (human)0.000004body height (VT:0001253)body height (CMO:0000106)69014101190141012Human
407122520GWAS771496_Hhypothyroidism QTL GWAS771496 (human)2e-39hypothyroidism69027940690279407Human
407149402GWAS798378_Hchildhood onset asthma QTL GWAS798378 (human)5e-09childhood onset asthma69011916390119164Human
407149403GWAS798379_Hchildhood onset asthma QTL GWAS798379 (human)5e-15childhood onset asthma69029602490296025Human
407006306GWAS655282_Hlymphocyte count QTL GWAS655282 (human)2e-37lymphocyte countblood lymphocyte count (CMO:0000031)69026704990267050Human
406919778GWAS568754_Hlymphocyte count QTL GWAS568754 (human)4e-13lymphocyte countblood lymphocyte count (CMO:0000031)69026704990267050Human
407339617GWAS988593_Hmean corpuscular hemoglobin QTL GWAS988593 (human)7e-15mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)69025115690251157Human
407183458GWAS832434_HGraves disease QTL GWAS832434 (human)7e-09Graves disease69027940690279407Human
407263585GWAS912561_HInhalant adrenergic use measurement QTL GWAS912561 (human)1e-18Inhalant adrenergic use measurement69029650890296509Human
407107179GWAS756155_HEczematoid dermatitis, allergic rhinitis QTL GWAS756155 (human)5e-18Eczematoid dermatitis, allergic rhinitis69024878390248784Human
407154029GWAS803005_Hcutaneous melanoma QTL GWAS803005 (human)4e-09cutaneous melanoma69029602490296025Human
407005544GWAS654520_Hneutrophil count QTL GWAS654520 (human)5e-12neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)69023676090236761Human
407121262GWAS770238_Hrheumatoid arthritis, celiac disease QTL GWAS770238 (human)4e-11rheumatoid arthritis, celiac disease69026704990267050Human
407149166GWAS798142_Hasthma QTL GWAS798142 (human)1e-12asthma69027684090276841Human
406964333GWAS613309_Hneutrophil percentage of granulocytes QTL GWAS613309 (human)5e-20neutrophil percentage of granulocytes69023511290235113Human
407301482GWAS950458_Hasthma QTL GWAS950458 (human)7e-29asthma69027547990275480Human
407301481GWAS950457_Hasthma QTL GWAS950457 (human)1e-28asthma69026689090266891Human
406910063GWAS559039_HGraves disease QTL GWAS559039 (human)0.000004Graves disease69026704990267050Human
406910064GWAS559040_Hautoimmune thyroid disease, Hashimoto's thyroiditis, Graves disease QTL GWAS559040 (human)0.0000001autoimmune thyroid disease, Hashimoto's thyroiditis, Graves disease69026704990267050Human
406938995GWAS587971_Hreaction time measurement QTL GWAS587971 (human)0.000003reaction time measurement69011200890112009Human
407060593GWAS709569_HNasal Cavity Polyp QTL GWAS709569 (human)8e-08Nasal Cavity Polyp69024669090246691Human
406908530GWAS557506_Hsystemic lupus erythematosus QTL GWAS557506 (human)1e-10systemic lupus erythematosus69029277590292776Human
407108215GWAS757191_Hautoimmune disease QTL GWAS757191 (human)5e-23autoimmune disease69026704990267050Human
406930037GWAS579013_Hatopic asthma QTL GWAS579013 (human)2e-20atopic asthma69028705090287051Human
407031413GWAS680389_Hsystemic lupus erythematosus QTL GWAS680389 (human)4e-11systemic lupus erythematosus69024774490247745Human
407204989GWAS853965_Hblood protein measurement QTL GWAS853965 (human)1e-12blood protein measurementblood protein measurement (CMO:0000028)69014044590140446Human
407164286GWAS813262_Heosinophil measurement QTL GWAS813262 (human)2e-09eosinophil measurement69024152090241521Human
407079800GWAS728776_Htotal blood protein measurement QTL GWAS728776 (human)7e-27total blood protein measurementblood protein measurement (CMO:0000028)69015515190155152Human
407126392GWAS775368_Htype 1 diabetes mellitus QTL GWAS775368 (human)0.000001type 1 diabetes mellitus69024774490247745Human
407173240GWAS822216_Hlymphocyte count QTL GWAS822216 (human)4e-22lymphocyte countblood lymphocyte count (CMO:0000031)69026704990267050Human
406970236GWAS619212_Hmean corpuscular volume QTL GWAS619212 (human)9e-10mean corpuscular volumemean corpuscular volume (CMO:0000038)69022717590227176Human
407321978GWAS970954_Hblood protein measurement QTL GWAS970954 (human)2e-13blood protein measurementblood protein measurement (CMO:0000028)69026704990267050Human
407252600GWAS901576_HGenetic chronic primary adrenal insufficiency QTL GWAS901576 (human)3e-27Genetic chronic primary adrenal insufficiency69021689390216894Human
407321977GWAS970953_Hblood protein measurement QTL GWAS970953 (human)2e-26blood protein measurementblood protein measurement (CMO:0000028)69026704990267050Human
407016449GWAS665425_Hmultiple sclerosis QTL GWAS665425 (human)2e-15multiple sclerosis69026704990267050Human
407017734GWAS666710_HThyroid preparation use measurement QTL GWAS666710 (human)1e-39Thyroid preparation use measurement69027940690279407Human
407134720GWAS783696_Hbasal cell carcinoma QTL GWAS783696 (human)7e-20basal cell carcinoma69029602490296025Human
407028484GWAS677460_Hvisceral:subcutaneous adipose tissue ratio QTL GWAS677460 (human)0.0000006visceral:subcutaneous adipose tissue ratio68998855589988556Human
406963206GWAS612182_Hhypothyroidism QTL GWAS612182 (human)0.0000002hypothyroidism69026628090266281Human
407054084GWAS703060_Hkeratinocyte carcinoma QTL GWAS703060 (human)1e-20lymphocyte countblood lymphocyte count (CMO:0000031)69026704990267050Human
406977545GWAS626521_Heosinophil percentage of granulocytes QTL GWAS626521 (human)2e-19eosinophil percentage of granulocytes69024669090246691Human
407053835GWAS702811_Hsquamous cell carcinoma QTL GWAS702811 (human)0.0000005squamous cell carcinoma69026704990267050Human
406888713GWAS537689_HBMI-adjusted hip circumference QTL GWAS537689 (human)0.000002BMI-adjusted hip circumferencehip circumference (CMO:0000014)69019044590190446Human
406929163GWAS578139_HCrohn's disease QTL GWAS578139 (human)6e-09Crohn's disease69026344090263441Human
407162127GWAS811103_Hinflammatory bowel disease QTL GWAS811103 (human)2e-10inflammatory bowel disease69026344090263441Human
407141135GWAS790111_Hasthma QTL GWAS790111 (human)2e-12asthma69027696790276968Human
407006478GWAS655454_Hneutrophil count QTL GWAS655454 (human)3e-13neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)69023676090236761Human
407259915GWAS908891_Hlymphocyte percentage of leukocytes QTL GWAS908891 (human)2e-10lymphocyte percentage of leukocytesblood lymphocyte count to total leukocyte count ratio (CMO:0000371)69029602490296025Human
407167242GWAS816218_Heosinophil measurement QTL GWAS816218 (human)9e-11eosinophil measurement69015650890156509Human
407126538GWAS775514_HCrohn's disease QTL GWAS775514 (human)5e-09Crohn's disease69026344090263441Human
407229973GWAS878949_Hasthma QTL GWAS878949 (human)7e-11asthma69027547990275480Human
407051281GWAS700257_HGraves disease QTL GWAS700257 (human)0.000002Graves disease69021202190212022Human
407282196GWAS931172_Hskin neoplasm QTL GWAS931172 (human)3e-11skin neoplasm69029602490296025Human
407363348GWAS1012324_Hcutaneous squamous cell carcinoma QTL GWAS1012324 (human)2e-08rheumatoid arthritis69026704990267050Human
407074839GWAS723815_Hcesarean section, intelligence QTL GWAS723815 (human)0.000007cesarean section, intelligence69001513690015137Human
406954774GWAS603750_Heosinophil count QTL GWAS603750 (human)1e-27eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)69024669090246691Human
407298588GWAS947564_Hlymphocyte count QTL GWAS947564 (human)4e-10lymphocyte countblood lymphocyte count (CMO:0000031)69021800990218010Human
407027992GWAS676968_HVitiligo QTL GWAS676968 (human)3e-08Vitiligo69024774490247745Human
407200542GWAS849518_Hmean corpuscular volume QTL GWAS849518 (human)5e-16mean corpuscular volumemean corpuscular volume (CMO:0000038)69027779390277794Human
406916382GWAS565358_Hasthma QTL GWAS565358 (human)5e-23asthma69027684090276841Human
407047714GWAS696690_Hneuropsychological test QTL GWAS696690 (human)0.000009neuropsychological test68993077289930773Human
406908196GWAS557172_Hankylosing spondylitis QTL GWAS557172 (human)5e-08ankylosing spondylitis68995605489956055Human
406969637GWAS618613_Heosinophil percentage of leukocytes QTL GWAS618613 (human)2e-20eosinophil percentage of leukocytesblood eosinophil count to total leukocyte count ratio (CMO:0000369)69024669090246691Human
406939433GWAS588409_Heosinophil percentage of leukocytes QTL GWAS588409 (human)8e-54eosinophil percentage of leukocytesblood eosinophil count to total leukocyte count ratio (CMO:0000369)69024878390248784Human
407377442GWAS1026418_Hnon-melanoma skin carcinoma QTL GWAS1026418 (human)3e-13non-melanoma skin carcinoma69026704990267050Human
406962986GWAS611962_HCOVID-19 QTL GWAS611962 (human)3e-09COVID-1969011916390119164Human
406923818GWAS572794_Hcutaneous squamous cell carcinoma QTL GWAS572794 (human)4e-09cutaneous squamous cell carcinoma69017067490170675Human
407000105GWAS649081_Hmultiple sclerosis QTL GWAS649081 (human)8e-29multiple sclerosis69026704990267050Human
407039534GWAS688510_Hage of onset of childhood onset asthma QTL GWAS688510 (human)5e-14age of onset of childhood onset asthma69014730990147310Human
407257394GWAS906370_Hinflammatory bowel disease QTL GWAS906370 (human)3e-10inflammatory bowel disease69027431690274317Human
407125553GWAS774529_Htype 1 diabetes mellitus QTL GWAS774529 (human)5e-08type 1 diabetes mellitus69024851290248513Human
407210544GWAS859520_Hasthma QTL GWAS859520 (human)6e-11asthma69029161390291614Human
406886969GWAS535945_Hinflammatory bowel disease QTL GWAS535945 (human)7e-10inflammatory bowel disease69026344090263441Human
407232058GWAS881034_Hred blood cell density measurement QTL GWAS881034 (human)2e-24red blood cell density measurement69029650890296509Human
407235012GWAS883988_Hbone density QTL GWAS883988 (human)1e-300bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)69010260990102610Human
406954435GWAS603411_HC-C motif chemokine 22 measurement QTL GWAS603411 (human)1e-13chemokine amount (VT:0008721)69025115690251157Human
407249600GWAS898576_Hasthma QTL GWAS898576 (human)2e-46asthma69029650890296509Human
407065545GWAS714521_Hmonocyte percentage of leukocytes QTL GWAS714521 (human)5e-31monocyte percentage of leukocytesblood monocyte count to total leukocyte count ratio (CMO:0000374)69022566490225665Human
407111119GWAS760095_Hrespiratory system disease QTL GWAS760095 (human)3e-26respiratory system disease69022079490220795Human
407102664GWAS751640_Hleukocyte count QTL GWAS751640 (human)9e-24leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)69022566490225665Human
407141839GWAS790815_Hasthma QTL GWAS790815 (human)9e-13asthma69027696790276968Human
406933708GWAS582684_Hbasophil count QTL GWAS582684 (human)2e-11basophil quantity (VT:0002607)blood basophil count (CMO:0000034)69009863390098634Human
407037135GWAS686111_Hfatty acid measurement QTL GWAS686111 (human)2e-10fatty acid measurement69025761890257619Human
407113419GWAS762395_Hmean corpuscular hemoglobin QTL GWAS762395 (human)2e-21mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)69027779390277794Human
407297737GWAS946713_Hhypothyroidism QTL GWAS946713 (human)2e-43hypothyroidism69027940690279407Human
407011795GWAS660771_HVitiligo QTL GWAS660771 (human)1e-14Vitiligo69026704990267050Human
407023063GWAS672039_Hserum IgG glycosylation measurement QTL GWAS672039 (human)7e-09serum IgG glycosylation measurement68994806489948065Human
406922196GWAS571172_Hrisk-taking behaviour QTL GWAS571172 (human)8e-10risk-taking behaviour69012155090121551Human
407108310GWAS757286_Herythrocyte count QTL GWAS757286 (human)3e-16erythrocyte countred blood cell count (CMO:0000025)69024878390248784Human
407129297GWAS778273_Hmultiple sclerosis QTL GWAS778273 (human)4e-08multiple sclerosis69028705090287051Human
407054292GWAS703268_Heosinophil count QTL GWAS703268 (human)6e-92eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)69024627690246277Human
406992853GWAS641829_Hsmoking initiation QTL GWAS641829 (human)4e-12smoking initiation69026805190268052Human
407378898GWAS1027874_Hrheumatoid arthritis QTL GWAS1027874 (human)6e-09rheumatoid arthritis69026704990267050Human
407028959GWAS677935_Hsystemic lupus erythematosus QTL GWAS677935 (human)5e-13systemic lupus erythematosus69017067490170675Human
407323866GWAS972842_Hblood protein measurement QTL GWAS972842 (human)9e-12autoimmune diseaseblood protein measurement (CMO:0000028)69026704990267050Human
407182040GWAS831016_Hhyperthyroidism QTL GWAS831016 (human)3e-08hyperthyroidism69027660190276602Human
407015389GWAS664365_Hmean corpuscular hemoglobin QTL GWAS664365 (human)3e-26mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)69027779390277794Human
407203301GWAS852277_Hblood protein measurement QTL GWAS852277 (human)3e-10blood protein measurementblood protein measurement (CMO:0000028)69025923090259231Human
406904547GWAS553523_HR-6-hydroxywarfarin measurement QTL GWAS553523 (human)0.000002R-6-hydroxywarfarin measurement69029277590292776Human
406941413GWAS590389_Heosinophil count QTL GWAS590389 (human)5e-74eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)69024669090246691Human
406900453GWAS549429_Hankylosing spondylitis, psoriasis, ulcerative colitis, Crohn's disease, sclerosing cholangitis QTL GWAS549429 (human)2e-10ankylosing spondylitis, psoriasis, ulcerative colitis, Crohn's disease, sclerosing cholangitis69026704990267050Human
407152865GWAS801841_Hallergic rhinitis QTL GWAS801841 (human)2e-18allergic rhinitis69029650890296509Human
407036388GWAS685364_Hmyeloid white cell count QTL GWAS685364 (human)3e-28eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)69023676090236761Human
406894566GWAS543542_Hankylosing spondylitis, psoriasis, ulcerative colitis, Crohn's disease, sclerosing cholangitis QTL GWAS543542 (human)5e-10ankylosing spondylitis, psoriasis, ulcerative colitis, Crohn's disease, sclerosing cholangitis69026344090263441Human
407080164GWAS729140_Hinterleukin-6 measurement QTL GWAS729140 (human)0.000005interleukin-6 measurementblood interleukin-6 level (CMO:0001926)69004563390045634Human
407246049GWAS895025_Heosinophil count QTL GWAS895025 (human)1e-43eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)69024669090246691Human
407367648GWAS1016624_Hblood protein measurement QTL GWAS1016624 (human)4e-23blood protein measurementblood protein measurement (CMO:0000028)69026344090263441Human
407119597GWAS768573_Herythrocyte count QTL GWAS768573 (human)2e-15erythrocyte countred blood cell count (CMO:0000025)69027160090271601Human
407302636GWAS951612_Hchildhood onset asthma QTL GWAS951612 (human)3e-38childhood onset asthma69026689090266891Human
407163369GWAS812345_HFEV/FVC ratio QTL GWAS812345 (human)2e-11FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)69029650890296509Human
407323881GWAS972857_Hblood protein measurement QTL GWAS972857 (human)2e-55blood protein measurementblood protein measurement (CMO:0000028)69026704990267050Human
407265270GWAS914246_HGlucocorticoid use measurement QTL GWAS914246 (human)1e-13Glucocorticoid use measurement69029650890296509Human
406963184GWAS612160_HCOVID-19 QTL GWAS612160 (human)7e-10COVID-1969012010090120101Human
407052529GWAS701505_Heosinophil count QTL GWAS701505 (human)1e-88eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)69024669090246691Human
407183350GWAS832326_Hlymphocyte measurement QTL GWAS832326 (human)6e-12lymphocyte measurement69029602490296025Human
407124721GWAS773697_Htype 1 diabetes mellitus QTL GWAS773697 (human)3e-08type 1 diabetes mellitus69024851290248513Human
407186672GWAS835648_Hhypothyroidism QTL GWAS835648 (human)2e-24basal cell carcinoma69029602490296025Human
407177971GWAS826947_Hbasophil count QTL GWAS826947 (human)2e-10basophil quantity (VT:0002607)blood basophil count (CMO:0000034)69029650890296509Human
407009018GWAS657994_Htype 1 diabetes mellitus QTL GWAS657994 (human)6e-14type 1 diabetes mellitus69026704990267050Human
407362559GWAS1011535_Hlymphocyte measurement QTL GWAS1011535 (human)3e-14lymphocyte measurement69026704990267050Human
407362047GWAS1011023_HThyroid preparation use measurement QTL GWAS1011023 (human)9e-41Thyroid preparation use measurement69027940690279407Human
407034362GWAS683338_Hmyeloid white cell count QTL GWAS683338 (human)1e-26myeloid white cell countwhite blood cell count (CMO:0000027)69028663090286631Human
406986744GWAS635720_Hlatent autoimmune diabetes in adults QTL GWAS635720 (human)0.0000001latent autoimmune diabetes in adults69024851290248513Human
407270396GWAS919372_Hasthma QTL GWAS919372 (human)2e-25asthma69027160090271601Human
406886907GWAS535883_HCrohn's disease QTL GWAS535883 (human)1e-10Crohn's disease69026344090263441Human
407342842GWAS991818_Hschizophrenia QTL GWAS991818 (human)0.000003schizophrenia69019308990193090Human
407204993GWAS853969_Hblood protein measurement QTL GWAS853969 (human)8e-16blood protein measurementblood protein measurement (CMO:0000028)69014253990142540Human
407258243GWAS907219_Hasthma QTL GWAS907219 (human)5e-27asthma69022079490220795Human
407006596GWAS655572_Hasthma QTL GWAS655572 (human)1e-38asthma69023875790238758Human
407321984GWAS970960_Hblood protein measurement QTL GWAS970960 (human)5e-67blood protein measurementblood protein measurement (CMO:0000028)69026704990267050Human
406986121GWAS635097_Hnon-melanoma skin carcinoma QTL GWAS635097 (human)0.000001rheumatoid arthritis, anti-citrullinated protein antibody seropositivity, rheumatoid factor seropositivity measurement69026704990267050Human
407125652GWAS774628_Hasthma, Eczematoid dermatitis, allergic rhinitis QTL GWAS774628 (human)8e-23asthma, Eczematoid dermatitis, allergic rhinitis69024878390248784Human
406927761GWAS576737_Hmosquito bite reaction size measurement QTL GWAS576737 (human)0.000008mosquito bite reaction size measurement69026704990267050Human
407386520GWAS1035496_Hceliac disease QTL GWAS1035496 (human)0.0000004celiac disease69026704990267050Human
407192468GWAS841444_Hresponse to cisplatin QTL GWAS841444 (human)0.0000007response to cisplatin69002518990025190Human
407192471GWAS841447_Hresponse to cisplatin QTL GWAS841447 (human)4e-08response to cisplatin69002518990025190Human
407313553GWAS962529_Heosinophil count QTL GWAS962529 (human)5e-52eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)69024878390248784Human
407181981GWAS830957_HHashimoto's thyroiditis QTL GWAS830957 (human)2e-09Hashimoto's thyroiditis69027940690279407Human
407211676GWAS860652_HEczematoid dermatitis QTL GWAS860652 (human)1e-18Eczematoid dermatitis69024878390248784Human
407039903GWAS688879_Hceliac disease QTL GWAS688879 (human)2e-08celiac disease69017031690170317Human
407306650GWAS955626_Hasthma QTL GWAS955626 (human)2e-08asthma69024090990240910Human
407386519GWAS1035495_Htype 2 diabetes mellitus QTL GWAS1035495 (human)1e-11type 2 diabetes mellitus69026704990267050Human
406915233GWAS564209_Hsystemic lupus erythematosus QTL GWAS564209 (human)8e-09systemic lupus erythematosus69000944590009446Human
407035299GWAS684275_Hmean reticulocyte volume QTL GWAS684275 (human)8e-41reticulocyte morphology trait (VT:0002424)mean corpuscular volume (CMO:0000038)69023837490238375Human
406915234GWAS564210_Hsystemic lupus erythematosus QTL GWAS564210 (human)5e-11systemic lupus erythematosus69029277590292776Human
406941095GWAS590071_Hautoimmune thyroid disease QTL GWAS590071 (human)6e-42autoimmune thyroid disease69028033190280332Human
406907304GWAS556280_Hankylosing spondylitis QTL GWAS556280 (human)3e-08ankylosing spondylitis68995605489956055Human
406959529GWAS608505_Hmonocyte percentage of leukocytes QTL GWAS608505 (human)6e-12monocyte percentage of leukocytesblood monocyte count to total leukocyte count ratio (CMO:0000374)69019308990193090Human
407036330GWAS685306_Hadult onset asthma QTL GWAS685306 (human)2e-15adult onset asthma69027663490276635Human
1298426BFD3_HBody fluid distribution QTL 3 (human)2.790.01Body fluid distributionimpedance ratio684873647110873647Human
407101871GWAS750847_Heosinophil count QTL GWAS750847 (human)4e-79eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)69024669090246691Human
407228585GWAS877561_Hallergic disease QTL GWAS877561 (human)2e-17allergic disease69027779390277794Human
407101870GWAS750846_Heosinophil count QTL GWAS750846 (human)2e-10eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)69012954590129546Human
407277995GWAS926971_Hasthma QTL GWAS926971 (human)9e-24asthma69027684090276841Human
407026604GWAS675580_Hserum IgG glycosylation measurement QTL GWAS675580 (human)0.000005serum IgG glycosylation measurement68994806489948065Human
407101869GWAS750845_Heosinophil count QTL GWAS750845 (human)5e-08eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)69002855890028559Human
407000492GWAS649468_Hadult onset asthma QTL GWAS649468 (human)3e-14adult onset asthma69027547990275480Human
406913201GWAS562177_Hceliac disease QTL GWAS562177 (human)0.0000003celiac disease69009992090099921Human
407013811GWAS662787_Hrheumatoid arthritis QTL GWAS662787 (human)0.0000008rheumatoid arthritis, anti-citrullinated protein antibody seropositivity, rheumatoid factor seropositivity measurement69026704990267050Human
407036080GWAS685056_Hphosphoglycerides measurement QTL GWAS685056 (human)7e-10phosphoglycerides measurement 69025761890257619Human
407200438GWAS849414_Hasthma QTL GWAS849414 (human)1e-25asthma69029161390291614Human
406908597GWAS557573_Hsystemic lupus erythematosus QTL GWAS557573 (human)4e-12systemic lupus erythematosus69029277590292776Human
407215027GWAS864003_HNasal Cavity Polyp QTL GWAS864003 (human)1e-17Nasal Cavity Polyp69024627690246277Human
407386800GWAS1035776_Hbasal cell carcinoma QTL GWAS1035776 (human)3e-65basal cell carcinoma69026704990267050Human
407368895GWAS1017871_Hbasal cell carcinoma QTL GWAS1017871 (human)3e-17basal cell carcinoma69026704990267050Human
407109560GWAS758536_Hneutrophil count QTL GWAS758536 (human)2e-11neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)69023676090236761Human
406897851GWAS546827_Hthyroid peroxidase antibody measurement QTL GWAS546827 (human)0.000001thyroid peroxidase antibody measurement69024851290248513Human
407174840GWAS823816_Hatopic eczema QTL GWAS823816 (human)2e-44atopic eczema69022079490220795Human
407025599GWAS674575_Hceliac disease QTL GWAS674575 (human)4e-10celiac disease69021689390216894Human
407123899GWAS772875_Hsaturated fatty acids measurement QTL GWAS772875 (human)5e-10saturated fatty acids measurement 69025761890257619Human

Markers in Region
D6S462  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37690,928,591 - 90,928,875UniSTSGRCh37
GRCh37690,928,586 - 90,928,727UniSTSGRCh37
Build 36690,985,312 - 90,985,596RGDNCBI36
Celera691,349,110 - 91,349,394RGD
Celera691,349,105 - 91,349,246UniSTS
Cytogenetic Map6q15UniSTS
HuRef688,147,758 - 88,148,042UniSTS
HuRef688,147,753 - 88,147,894UniSTS
Marshfield Genetic Map699.01UniSTS
Marshfield Genetic Map699.01RGD
Genethon Genetic Map699.0UniSTS
TNG Radiation Hybrid Map644205.0UniSTS
Whitehead-YAC Contig Map6 UniSTS
GeneMap99-G3 RH Map64228.0UniSTS
G17078  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37690,690,750 - 90,690,855UniSTSGRCh37
Build 36690,747,471 - 90,747,576RGDNCBI36
Celera691,111,277 - 91,111,382RGD
Cytogenetic Map6q15UniSTS
HuRef687,909,904 - 87,910,009UniSTS
A008R03  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37690,637,962 - 90,638,155UniSTSGRCh37
Build 36690,694,683 - 90,694,876RGDNCBI36
Celera691,058,506 - 91,058,699RGD
Cytogenetic Map6q15UniSTS
HuRef687,857,295 - 87,857,488UniSTS
GeneMap99-GB4 RH Map6395.78UniSTS
RH37451  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37690,808,894 - 90,809,079UniSTSGRCh37
Build 36690,865,615 - 90,865,800RGDNCBI36
Celera691,229,419 - 91,229,604RGD
Cytogenetic Map6q15UniSTS
HuRef688,028,077 - 88,028,262UniSTS
GeneMap99-GB4 RH Map6397.45UniSTS
SGC34793  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37690,711,096 - 90,711,238UniSTSGRCh37
Build 36690,767,817 - 90,767,959RGDNCBI36
Celera691,131,620 - 91,131,762RGD
Cytogenetic Map6q15UniSTS
HuRef687,930,254 - 87,930,396UniSTS
GeneMap99-GB4 RH Map6386.33UniSTS
Whitehead-RH Map6596.7UniSTS
RH103117  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37690,636,278 - 90,636,475UniSTSGRCh37
Build 36690,692,999 - 90,693,196RGDNCBI36
Celera691,056,822 - 91,057,019RGD
Cytogenetic Map6q15UniSTS
HuRef687,855,611 - 87,855,808UniSTS
GeneMap99-GB4 RH Map6395.89UniSTS
RH104070  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37690,960,083 - 90,960,210UniSTSGRCh37
Build 36691,016,804 - 91,016,931RGDNCBI36
Celera691,380,600 - 91,380,727RGD
Cytogenetic Map6q15UniSTS
HuRef688,179,245 - 88,179,372UniSTS
GeneMap99-GB4 RH Map6410.13UniSTS
RH119295  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37690,795,062 - 90,795,343UniSTSGRCh37
Build 36690,851,783 - 90,852,064RGDNCBI36
Celera691,215,582 - 91,215,863RGD
Cytogenetic Map6q15UniSTS
HuRef688,014,225 - 88,014,506UniSTS
RH123573  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37690,947,404 - 90,947,710UniSTSGRCh37
Build 36691,004,125 - 91,004,431RGDNCBI36
Celera691,367,921 - 91,368,227RGD
Cytogenetic Map6q15UniSTS
HuRef688,166,566 - 88,166,872UniSTS
TNG Radiation Hybrid Map644230.0UniSTS
RH123580  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37691,003,360 - 91,003,645UniSTSGRCh37
Build 36691,060,081 - 91,060,366RGDNCBI36
Celera691,423,877 - 91,424,162RGD
Cytogenetic Map6q15UniSTS
HuRef688,222,521 - 88,222,806UniSTS
TNG Radiation Hybrid Map644252.0UniSTS
D6S366  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37690,812,441 - 90,812,593UniSTSGRCh37
Build 36690,869,162 - 90,869,314RGDNCBI36
Celera691,232,968 - 91,233,114RGD
Cytogenetic Map6q15UniSTS
HuRef688,031,624 - 88,031,770UniSTS
D6S1351  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37690,758,156 - 90,758,264UniSTSGRCh37
Build 36690,814,877 - 90,814,985RGDNCBI36
Celera691,178,676 - 91,178,784RGD
Cytogenetic Map6q15UniSTS
HuRef687,977,320 - 87,977,428UniSTS
SHGC-146246  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37690,643,981 - 90,644,096UniSTSGRCh37
Build 36690,700,702 - 90,700,817RGDNCBI36
Celera691,064,520 - 91,064,635RGD
Cytogenetic Map6q15UniSTS
HuRef687,863,310 - 87,863,425UniSTS
G17026  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37690,748,783 - 90,748,923UniSTSGRCh37
Build 36690,805,504 - 90,805,644RGDNCBI36
Celera691,169,303 - 91,169,443RGD
Cytogenetic Map6q15UniSTS
HuRef687,967,937 - 87,968,077UniSTS
SHGC-34604  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37690,907,381 - 90,907,505UniSTSGRCh37
Build 36690,964,102 - 90,964,226RGDNCBI36
Celera691,327,901 - 91,328,025RGD
Cytogenetic Map6q15UniSTS
HuRef688,126,549 - 88,126,673UniSTS
Stanford-G3 RH Map63922.0UniSTS
GeneMap99-GB4 RH Map6412.67UniSTS
Whitehead-RH Map6599.2UniSTS
NCBI RH Map61282.0UniSTS
GeneMap99-G3 RH Map64228.0UniSTS
D6S1506  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37690,804,156 - 90,804,305UniSTSGRCh37
Build 36690,860,877 - 90,861,026RGDNCBI36
Celera691,224,679 - 91,224,828RGD
Cytogenetic Map6q15UniSTS
HuRef688,023,340 - 88,023,489UniSTS
Whitehead-RH Map6568.5UniSTS
Whitehead-YAC Contig Map6 UniSTS
A009Y20  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37690,907,243 - 90,907,426UniSTSGRCh37
Build 36690,963,964 - 90,964,147RGDNCBI36
Celera691,327,763 - 91,327,946RGD
Cytogenetic Map6q15UniSTS
HuRef688,126,411 - 88,126,594UniSTS
GeneMap99-GB4 RH Map6397.55UniSTS
RH16500  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37690,907,282 - 90,907,421UniSTSGRCh37
Build 36690,964,003 - 90,964,142RGDNCBI36
Celera691,327,802 - 91,327,941RGD
Cytogenetic Map6q15UniSTS
HuRef688,126,450 - 88,126,589UniSTS
GeneMap99-GB4 RH Map6397.45UniSTS
RH65350  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37690,846,729 - 90,846,860UniSTSGRCh37
Build 36690,903,450 - 90,903,581RGDNCBI36
Celera691,267,251 - 91,267,382RGD
Cytogenetic Map6q15UniSTS
HuRef688,065,899 - 88,066,030UniSTS
GeneMap99-GB4 RH Map6397.55UniSTS
BACH2_4426  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37690,636,238 - 90,637,089UniSTSGRCh37
Build 36690,692,959 - 90,693,810RGDNCBI36
Celera691,056,782 - 91,057,633RGD
HuRef687,855,571 - 87,856,422UniSTS
G32982  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37690,907,243 - 90,907,426UniSTSGRCh37
Celera691,327,763 - 91,327,946UniSTS
Cytogenetic Map6q15UniSTS
HuRef688,126,411 - 88,126,594UniSTS
D6S462  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6q15UniSTS
TNG Radiation Hybrid Map644205.0UniSTS
GeneMap99-G3 RH Map64228.0UniSTS


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
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2378 2788 2245 4942 1716 2331 4 616 1851 458 2265 7128 6353 44 3711 831 1723 1605 171 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001170794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005248758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005248759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA885077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB208889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF357835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI524722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ271878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL117342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL158136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL159164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL512739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC070239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN261405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB077323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB240991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HE578163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HE578164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HE578165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HE578166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HE578167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HE578168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HE578169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HE578170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HE578171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HE578172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HE578173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HE578174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HE578175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HE578176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI573894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000257749   ⟹   ENSP00000257749
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl689,926,528 - 90,296,843 (-)Ensembl
Ensembl Acc Id: ENST00000343122   ⟹   ENSP00000345642
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl689,931,485 - 90,296,742 (-)Ensembl
Ensembl Acc Id: ENST00000406998   ⟹   ENSP00000384145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl689,931,424 - 90,296,742 (-)Ensembl
Ensembl Acc Id: ENST00000453877   ⟹   ENSP00000397668
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl689,932,408 - 90,296,742 (-)Ensembl
Ensembl Acc Id: ENST00000470301
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl690,088,958 - 90,296,742 (-)Ensembl
Ensembl Acc Id: ENST00000472023
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl690,089,066 - 90,296,742 (-)Ensembl
Ensembl Acc Id: ENST00000481150
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl690,008,090 - 90,008,827 (-)Ensembl
Ensembl Acc Id: ENST00000493201
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl690,089,054 - 90,218,245 (-)Ensembl
Ensembl Acc Id: ENST00000494747
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl690,104,365 - 90,296,742 (-)Ensembl
Ensembl Acc Id: ENST00000537989   ⟹   ENSP00000437473
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl689,926,529 - 90,296,908 (-)Ensembl
Ensembl Acc Id: ENST00000695952   ⟹   ENSP00000512284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl689,932,408 - 90,206,689 (-)Ensembl
Ensembl Acc Id: ENST00000695953
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl689,950,156 - 90,296,747 (-)Ensembl
Ensembl Acc Id: ENST00000695954
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl689,975,550 - 90,062,963 (-)Ensembl
Ensembl Acc Id: ENST00000695955
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl690,172,683 - 90,219,750 (-)Ensembl
RefSeq Acc Id: NM_001170794   ⟹   NP_001164265
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38689,926,528 - 90,296,843 (-)NCBI
GRCh37690,636,247 - 91,006,627 (-)NCBI
HuRef687,855,580 - 88,225,476 (-)ENTREZGENE
CHM1_1690,733,911 - 91,104,124 (-)NCBI
T2T-CHM13v2.0691,138,217 - 91,508,429 (-)NCBI
Sequence:
RefSeq Acc Id: NM_021813   ⟹   NP_068585
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38689,926,528 - 90,296,843 (-)NCBI
GRCh37690,636,247 - 91,006,627 (-)ENTREZGENE
GRCh37690,636,247 - 91,006,627 (-)NCBI
Build 36690,692,969 - 91,063,182 (-)NCBI Archive
HuRef687,855,580 - 88,225,476 (-)ENTREZGENE
CHM1_1690,733,911 - 91,104,124 (-)NCBI
T2T-CHM13v2.0691,138,217 - 91,508,429 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001164265 (Get FASTA)   NCBI Sequence Viewer  
  NP_068585 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAK48898 (Get FASTA)   NCBI Sequence Viewer  
  BAD92126 (Get FASTA)   NCBI Sequence Viewer  
  CAC28130 (Get FASTA)   NCBI Sequence Viewer  
  CBX47436 (Get FASTA)   NCBI Sequence Viewer  
  CCD17752 (Get FASTA)   NCBI Sequence Viewer  
  CCD17753 (Get FASTA)   NCBI Sequence Viewer  
  CCD17754 (Get FASTA)   NCBI Sequence Viewer  
  CCD17755 (Get FASTA)   NCBI Sequence Viewer  
  CCD17756 (Get FASTA)   NCBI Sequence Viewer  
  CCD17757 (Get FASTA)   NCBI Sequence Viewer  
  CCD17758 (Get FASTA)   NCBI Sequence Viewer  
  CCD17759 (Get FASTA)   NCBI Sequence Viewer  
  CCD17760 (Get FASTA)   NCBI Sequence Viewer  
  CCD17761 (Get FASTA)   NCBI Sequence Viewer  
  CCD17762 (Get FASTA)   NCBI Sequence Viewer  
  CCD17763 (Get FASTA)   NCBI Sequence Viewer  
  CCD17764 (Get FASTA)   NCBI Sequence Viewer  
  CCD17765 (Get FASTA)   NCBI Sequence Viewer  
  EAW48530 (Get FASTA)   NCBI Sequence Viewer  
  EAW48531 (Get FASTA)   NCBI Sequence Viewer  
  EAW48532 (Get FASTA)   NCBI Sequence Viewer  
  EAW48533 (Get FASTA)   NCBI Sequence Viewer  
  EAW48534 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000257749
  ENSP00000257749.4
  ENSP00000345642.3
  ENSP00000384145
  ENSP00000384145.2
  ENSP00000384145.3
  ENSP00000397668.1
  ENSP00000397668.2
  ENSP00000512284.1
GenBank Protein Q9BYV9 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001164265   ⟸   NM_001170794
- UniProtKB: Q5T793 (UniProtKB/Swiss-Prot),   Q59H70 (UniProtKB/Swiss-Prot),   E1P518 (UniProtKB/Swiss-Prot),   Q9NTS5 (UniProtKB/Swiss-Prot),   Q9BYV9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_068585   ⟸   NM_021813
- UniProtKB: Q5T793 (UniProtKB/Swiss-Prot),   Q59H70 (UniProtKB/Swiss-Prot),   E1P518 (UniProtKB/Swiss-Prot),   Q9NTS5 (UniProtKB/Swiss-Prot),   Q9BYV9 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000397668   ⟸   ENST00000453877
Ensembl Acc Id: ENSP00000257749   ⟸   ENST00000257749
Ensembl Acc Id: ENSP00000437473   ⟸   ENST00000537989
Ensembl Acc Id: ENSP00000384145   ⟸   ENST00000406998
Ensembl Acc Id: ENSP00000345642   ⟸   ENST00000343122
Ensembl Acc Id: ENSP00000512284   ⟸   ENST00000695952
Protein Domains
BTB   bZIP

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BYV9-F1-model_v2 AlphaFold Q9BYV9 1-841 view protein structure

Promoters
RGD ID:7208713
Promoter ID:EPDNEW_H10102
Type:initiation region
Name:BACH2_2
Description:BTB domain and CNC homolog 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10103  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38690,080,927 - 90,080,987EPDNEW
RGD ID:7208715
Promoter ID:EPDNEW_H10103
Type:initiation region
Name:BACH2_1
Description:BTB domain and CNC homolog 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10102  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38690,296,843 - 90,296,903EPDNEW
RGD ID:6803778
Promoter ID:HG_KWN:54366
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:OTTHUMT00000041528
Position:
Human AssemblyChrPosition (strand)Source
Build 36690,774,881 - 90,775,381 (-)MPROMDB
RGD ID:6804016
Promoter ID:HG_KWN:54367
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour
Transcripts:ENST00000406998
Position:
Human AssemblyChrPosition (strand)Source
Build 36690,847,291 - 90,847,791 (-)MPROMDB
RGD ID:6803777
Promoter ID:HG_KWN:54368
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562
Transcripts:OTTHUMT00000041525
Position:
Human AssemblyChrPosition (strand)Source
Build 36690,984,909 - 90,985,409 (-)MPROMDB
RGD ID:6804017
Promoter ID:HG_KWN:54369
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562
Transcripts:ENST00000343122,   NM_001170794,   NM_021813,   OTTHUMT00000041520,   OTTHUMT00000041521,   OTTHUMT00000041523,   OTTHUMT00000041526,   OTTHUMT00000041527,   UC003PNV.1,   UC010KCH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36691,063,016 - 91,063,516 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14078 AgrOrtholog
COSMIC BACH2 COSMIC
Ensembl Genes ENSG00000112182 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000257749 ENTREZGENE
  ENST00000257749.9 UniProtKB/Swiss-Prot
  ENST00000343122.7 UniProtKB/Swiss-Prot
  ENST00000406998 ENTREZGENE
  ENST00000406998.6 UniProtKB/TrEMBL
  ENST00000406998.7 UniProtKB/Swiss-Prot
  ENST00000453877.5 UniProtKB/TrEMBL
  ENST00000453877.6 UniProtKB/Swiss-Prot
  ENST00000695952.1 UniProtKB/Swiss-Prot
Gene3D-CATH Transcription factor, Skn-1-like, DNA-binding domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000112182 GTEx
HGNC ID HGNC:14078 ENTREZGENE
Human Proteome Map BACH2 Human Proteome Map
InterPro BTB/POZ_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  bZIP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  bZIP_BACH UniProtKB/Swiss-Prot
  bZIP_Maf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  bZIP_sf UniProtKB/Swiss-Prot
  SKP1/BTB/POZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TF_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnFinger_BTB_dom_contain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:60468 UniProtKB/Swiss-Prot
NCBI Gene 60468 ENTREZGENE
OMIM 605394 OMIM
PANTHER AGAP004733-PA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRANSCRIPTION REGULATOR PROTEIN BACH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  bZIP_Maf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25235 PharmGKB
PROSITE BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BZIP UniProtKB/Swiss-Prot
  BZIP_BASIC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART BRLZ UniProtKB/Swiss-Prot
  BTB UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47454 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54695 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57959 UniProtKB/Swiss-Prot
UniProt BACH2_HUMAN UniProtKB/Swiss-Prot
  E1P518 ENTREZGENE
  Q59H70 ENTREZGENE
  Q5T793 ENTREZGENE
  Q7Z6Q0_HUMAN UniProtKB/TrEMBL
  Q9BYV9 ENTREZGENE
  Q9NTS5 ENTREZGENE
  S0BDY5_HUMAN UniProtKB/TrEMBL
  S0BDY6_HUMAN UniProtKB/TrEMBL
  S0BDZ6_HUMAN UniProtKB/TrEMBL
  S0BDZ7_HUMAN UniProtKB/TrEMBL
  S0BE05_HUMAN UniProtKB/TrEMBL
  S0BE06_HUMAN UniProtKB/TrEMBL
  S0BE24_HUMAN UniProtKB/TrEMBL
  S0BE25_HUMAN UniProtKB/TrEMBL
  S6CM55_HUMAN UniProtKB/TrEMBL
  S6CMK8_HUMAN UniProtKB/TrEMBL
  S6CNF7_HUMAN UniProtKB/TrEMBL
UniProt Secondary E1P518 UniProtKB/Swiss-Prot
  Q59H70 UniProtKB/Swiss-Prot
  Q5T793 UniProtKB/Swiss-Prot
  Q9NTS5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-02 BACH2  BTB domain and CNC homolog 2    BTB and CNC homology 1, basic leucine zipper transcription factor 2  Symbol and/or name change 5135510 APPROVED