MAFB (MAF bZIP transcription factor B) - Rat Genome Database

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Gene: MAFB (MAF bZIP transcription factor B) Homo sapiens
Analyze
Symbol: MAFB
Name: MAF bZIP transcription factor B
RGD ID: 732545
HGNC Page HGNC:6408
Description: Enables identical protein binding activity. Involved in negative regulation of erythrocyte differentiation and regulation of DNA-templated transcription. Part of RNA polymerase II transcription regulator complex. Is active in nucleus. Implicated in Duane retraction syndrome 3 and multicentric carpotarsal osteolysis syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DURS3; Kreisler maf-related leucine zipper homolog; KRML; maf-B; MAFB/Kreisler basic region/leucine zipper transcription factor; MCTO; MGC43127; transcription factor MafB; v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B; v-maf musculoaponeurotic fibrosarcoma oncogene family, protein b (avian)
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
GRCh382040,685,848 - 40,689,236 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2040,685,848 - 40,689,236 (-)EnsemblGRCh38hg38GRCh38
GRCh372039,314,488 - 39,317,876 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362038,747,929 - 38,751,290 (-)NCBINCBI36Build 36hg18NCBI36
Build 342038,747,928 - 38,751,290NCBI
Celera2036,024,991 - 36,028,352 (-)NCBICelera
Cytogenetic Map20q12NCBI
HuRef2036,052,429 - 36,055,822 (-)NCBIHuRef
CHM1_12039,218,912 - 39,222,304 (-)NCBICHM1_1
T2T-CHM13v2.02042,417,334 - 42,420,722 (-)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
(+)-schisandrin B  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2,4-trimethylbenzene  (ISO)
1,2-dichloroethane  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxynon-2-enal  (ISO)
5-azacytidine  (EXP)
7,12-dimethyltetraphene  (ISO)
acrylamide  (EXP)
actinomycin D  (EXP)
aflatoxin B1  (EXP)
aldehydo-D-glucosamine  (ISO)
all-trans-retinoic acid  (EXP,ISO)
alpha-Zearalanol  (ISO)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
asbestos  (EXP)
avobenzone  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-D-glucosamine  (ISO)
beta-naphthoflavone  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bromobenzene  (ISO)
buta-1,3-diene  (ISO)
butanal  (EXP)
calcitriol  (EXP)
cannabidiol  (ISO)
carbamazepine  (EXP,ISO)
carbon nanotube  (ISO)
celastrol  (EXP)
choline  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP,ISO)
Cuprizon  (ISO)
cyclosporin A  (EXP)
cyproconazole  (ISO)
DDE  (EXP)
dibenz[a,h]anthracene  (ISO)
Dibutyl phosphate  (EXP)
dichloromethane  (ISO)
diethylstilbestrol  (ISO)
dinophysistoxin 1  (EXP)
dioxygen  (ISO)
disulfiram  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
entinostat  (EXP)
epoxiconazole  (ISO)
esketamine  (EXP)
fenitrothion  (ISO)
ferric oxide  (ISO)
flavonoids  (ISO)
flusilazole  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
furan  (ISO)
gedunin  (EXP)
genistein  (EXP)
gentamycin  (ISO)
glafenine  (ISO)
inulin  (ISO)
L-methionine  (ISO)
lead diacetate  (EXP)
Licochalcone B  (EXP)
lipopolysaccharide  (ISO)
mercury dibromide  (EXP)
methotrexate  (ISO)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP)
N-nitrosodiethylamine  (ISO)
naphthalenes  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
Nutlin-3  (EXP)
orphenadrine  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
pentanal  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (EXP,ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
propanal  (EXP)
SB 431542  (EXP)
sevoflurane  (ISO)
silicon dioxide  (EXP)
silver atom  (EXP,ISO)
silver(0)  (EXP,ISO)
sodium arsenate  (EXP)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
Soman  (ISO)
succimer  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
Theaflavin 3,3'-digallate  (EXP)
thimerosal  (EXP)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
triadimefon  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triphenyl phosphate  (EXP,ISO)
Triptolide  (ISO)
triptonide  (ISO)
tunicamycin  (EXP)
urethane  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
versicolorin A  (EXP)
vorinostat  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cardiovascular system morphology  (IAGP)
Abnormal epiphysis morphology  (IAGP)
Abnormal form of the vertebral bodies  (IAGP)
Abnormal pinna morphology  (IAGP)
Abnormal pupil morphology  (IAGP)
Abnormal vertebral segmentation and fusion  (IAGP)
Abnormality of eye movement  (IAGP)
Abnormality of the wrist  (IAGP)
Absent radius  (IAGP)
Amblyopia  (IAGP)
Aniridia  (IAGP)
Ankle pain  (IAGP)
Ankle swelling  (IAGP)
Anorectal anomaly  (IAGP)
Anteverted nares  (IAGP)
Aplasia/Hypoplasia of the thumb  (IAGP)
Arthralgia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bilateral elbow dislocations  (IAGP)
Bilateral renal atrophy  (IAGP)
Blepharophimosis  (IAGP)
Blepharospasm  (IAGP)
Brachydactyly  (IAGP)
Brown anomaly  (IAGP)
Cachexia  (IAGP)
Camptodactyly  (IAGP)
Camptodactyly of finger  (IAGP)
Carpal osteolysis  (IAGP)
Central heterochromia  (IAGP)
Childhood onset  (IAGP)
Chorioretinal coloboma  (IAGP)
Cleft palate  (IAGP)
Compensatory head posture  (IAGP)
Congenital diaphragmatic hernia  (IAGP)
Corneal opacity  (IAGP)
Deeply set eye  (IAGP)
Downturned corners of mouth  (IAGP)
Duane anomaly  (IAGP)
Ectopic kidney  (IAGP)
EMG abnormality  (IAGP)
Everted lower lip vermilion  (IAGP)
Facial asymmetry  (IAGP)
Focal-onset seizure  (IAGP)
Gait disturbance  (IAGP)
Global developmental delay  (IAGP)
Gustatory lacrimation  (IAGP)
Hearing impairment  (IAGP)
Hypertension  (IAGP)
Hypopigmented skin patches  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Hypoplasia of the radius  (IAGP)
Hypoplastic iris stroma  (IAGP)
Impaired ocular abduction  (IAGP)
Impaired ocular adduction  (IAGP)
Inability to walk  (IAGP)
Infantile onset  (IAGP)
Iris coloboma  (IAGP)
Irregular hyperpigmentation  (IAGP)
Juvenile onset  (IAGP)
Limitation of joint mobility  (IAGP)
Low posterior hairline  (IAGP)
Marcus Gunn jaw winking synkinesis  (IAGP)
Metacarpal osteolysis  (IAGP)
Metatarsal osteolysis  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Micrognathia  (IAGP)
Narrow internal auditory canal  (IAGP)
Nephropathy  (IAGP)
Nystagmus  (IAGP)
Oculomotor apraxia  (IAGP)
Oculomotor nerve palsy  (IAGP)
Optic disc hypoplasia  (IAGP)
Osteolysis  (IAGP)
Osteolysis involving tarsal bones  (IAGP)
Osteopenia  (IAGP)
Palpebral fissure narrowing on adduction  (IAGP)
Patchy hypopigmentation of hair  (IAGP)
Pes cavus  (IAGP)
Plagiocephaly  (IAGP)
Polyhydramnios  (IAGP)
Preauricular skin tag  (IAGP)
Preaxial hand polydactyly  (IAGP)
Proptosis  (IAGP)
Proteinuria  (IAGP)
Ptosis  (IAGP)
Renal insufficiency  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short neck  (IAGP)
Short palpebral fissure  (IAGP)
Skeletal muscle atrophy  (IAGP)
Slender long bone  (IAGP)
Spina bifida occulta  (IAGP)
Stage 5 chronic kidney disease  (IAGP)
Stenosis of the external auditory canal  (IAGP)
Strabismus  (IAGP)
Talipes equinovarus  (IAGP)
Telecanthus  (IAGP)
Triangular face  (IAGP)
Triphalangeal thumb  (IAGP)
Ulnar deviation of the hand  (IAGP)
Ulnar deviation of the hand or of fingers of the hand  (IAGP)
Webbed neck  (IAGP)
Wide nasal bridge  (IAGP)
Wrist pain  (IAGP)
Wrist swelling  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
6. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:8001130   PMID:8620536   PMID:8632993   PMID:10444328   PMID:10698492   PMID:10909854   PMID:11036080   PMID:11780052   PMID:12196529   PMID:12477932   PMID:12499396   PMID:12514174  
PMID:12542795   PMID:12542796   PMID:12798298   PMID:14702039   PMID:14965474   PMID:15107855   PMID:15121870   PMID:15135046   PMID:15489334   PMID:15598817   PMID:16219768   PMID:16344560  
PMID:16456583   PMID:16473681   PMID:18029348   PMID:18615156   PMID:18830254   PMID:18832725   PMID:19013005   PMID:19060906   PMID:19274049   PMID:19332055   PMID:19395026   PMID:20102225  
PMID:20211142   PMID:20301369   PMID:20436469   PMID:20506502   PMID:20581830   PMID:20686565   PMID:20969674   PMID:21129249   PMID:21221126   PMID:21567910   PMID:21732829   PMID:21834038  
PMID:21839147   PMID:21873635   PMID:21988832   PMID:22387013   PMID:22753311   PMID:22903061   PMID:23225151   PMID:23251661   PMID:23661758   PMID:23863625   PMID:23956186   PMID:24097068  
PMID:24327562   PMID:24472656   PMID:24972815   PMID:24981860   PMID:24989131   PMID:25721756   PMID:25917456   PMID:26055874   PMID:26115698   PMID:26180087   PMID:26204962   PMID:26554594  
PMID:27052415   PMID:27097296   PMID:27181683   PMID:27208706   PMID:27448450   PMID:27829226   PMID:28093525   PMID:28566324   PMID:28790455   PMID:28933784   PMID:29138297   PMID:29757260  
PMID:29779709   PMID:29980194   PMID:30024657   PMID:30208859   PMID:31059266   PMID:31679694   PMID:31822558   PMID:32090104   PMID:32213710   PMID:32234710   PMID:32278749   PMID:32296183  
PMID:32307629   PMID:32488111   PMID:32513696   PMID:32622525   PMID:32646788   PMID:33268316   PMID:33312178   PMID:33897412   PMID:33961781   PMID:34893889   PMID:34904217   PMID:34964110  
PMID:35220623   PMID:35249929   PMID:35430273   PMID:36153605   PMID:36764337   PMID:36897571   PMID:36930354   PMID:37917179   PMID:37996430  


Genomics

Comparative Map Data
MAFB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382040,685,848 - 40,689,236 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2040,685,848 - 40,689,236 (-)EnsemblGRCh38hg38GRCh38
GRCh372039,314,488 - 39,317,876 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362038,747,929 - 38,751,290 (-)NCBINCBI36Build 36hg18NCBI36
Build 342038,747,928 - 38,751,290NCBI
Celera2036,024,991 - 36,028,352 (-)NCBICelera
Cytogenetic Map20q12NCBI
HuRef2036,052,429 - 36,055,822 (-)NCBIHuRef
CHM1_12039,218,912 - 39,222,304 (-)NCBICHM1_1
T2T-CHM13v2.02042,417,334 - 42,420,722 (-)NCBIT2T-CHM13v2.0
Mafb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392160,205,597 - 160,208,985 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2160,205,623 - 160,208,985 (-)EnsemblGRCm39 Ensembl
GRCm382160,363,677 - 160,367,065 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2160,363,703 - 160,367,065 (-)EnsemblGRCm38mm10GRCm38
MGSCv372160,189,413 - 160,192,801 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362160,055,202 - 160,058,455 (-)NCBIMGSCv36mm8
Celera2166,294,850 - 166,298,242 (-)NCBICelera
Cytogenetic Map2H2NCBI
cM Map280.92NCBI
Mafb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83169,417,890 - 169,419,810 (-)NCBIGRCr8
mRatBN7.23148,998,111 - 149,000,031 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3148,998,122 - 149,000,031 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3152,813,737 - 152,815,657 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03161,313,129 - 161,315,049 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03159,051,829 - 159,053,749 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03156,338,993 - 156,340,913 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3156,339,004 - 156,340,913 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03162,572,668 - 162,574,588 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43151,116,831 - 151,118,751 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13151,022,739 - 151,024,660 (-)NCBI
Celera3147,675,895 - 147,677,815 (-)NCBICelera
RH 3.4 Map31369.7RGD
Cytogenetic Map3q42NCBI
Mafb
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495544516,219,675 - 16,222,913 (+)NCBIChiLan1.0ChiLan1.0
MAFB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22146,425,575 - 46,429,119 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12046,418,674 - 46,422,133 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02037,023,988 - 37,027,446 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12038,125,705 - 38,128,724 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2038,127,722 - 38,128,693 (-)Ensemblpanpan1.1panPan2
MAFB
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12428,769,904 - 28,772,519 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2428,770,944 - 28,774,948 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2428,416,065 - 28,419,157 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02429,474,707 - 29,477,799 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.12428,744,730 - 28,747,822 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02428,848,428 - 28,851,520 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02429,343,869 - 29,346,962 (-)NCBIUU_Cfam_GSD_1.0
Mafb
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640177,738,940 - 177,742,271 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365611,007,647 - 1,008,618 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365611,007,273 - 1,010,548 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MAFB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1743,404,925 - 43,411,739 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11743,408,390 - 43,411,782 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21748,698,403 - 48,701,189 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MAFB
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1223,092,547 - 23,097,721 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl223,094,713 - 23,095,684 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605071,901,067 - 71,904,494 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mafb
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249191,339,228 - 1,340,208 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249191,337,269 - 1,340,607 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MAFB
196 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005461.5(MAFB):c.184A>C (p.Thr62Pro) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000023747] Chr20:40688667 [GRCh38]
Chr20:39317307 [GRCh37]
Chr20:20q12		 pathogenic
NM_005461.5(MAFB):c.208T>G (p.Ser70Ala) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000023748] Chr20:40688643 [GRCh38]
Chr20:39317283 [GRCh37]
Chr20:20q12		 pathogenic
NM_005461.5(MAFB):c.209C>T (p.Ser70Leu) single nucleotide variant Inborn genetic diseases [RCV001266648]|Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000023749] Chr20:40688642 [GRCh38]
Chr20:39317282 [GRCh37]
Chr20:20q12		 pathogenic|likely pathogenic
NM_005461.5(MAFB):c.211C>T (p.Pro71Ser) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000023750] Chr20:40688640 [GRCh38]
Chr20:39317280 [GRCh37]
Chr20:20q12		 pathogenic
NM_005461.5(MAFB):c.212C>T (p.Pro71Leu) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000023751] Chr20:40688639 [GRCh38]
Chr20:39317279 [GRCh37]
Chr20:20q12		 pathogenic
NM_005461.5(MAFB):c.161C>T (p.Ser54Leu) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000023752]|not provided [RCV000724296] Chr20:40688690 [GRCh38]
Chr20:39317330 [GRCh37]
Chr20:20q12		 pathogenic
NM_005461.5(MAFB):c.629G>T (p.Arg210Leu) single nucleotide variant not provided [RCV000722273] Chr20:40688222 [GRCh38]
Chr20:39316862 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.125C>T (p.Pro42Leu) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV002493309]|not provided [RCV000728664] Chr20:40688726 [GRCh38]
Chr20:39317366 [GRCh37]
Chr20:20q12		 uncertain significance
GRCh38/hg38 20q11.22-13.11(chr20:34249453-43359749)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053002]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053002]|See cases [RCV000053002] Chr20:34249453..43359749 [GRCh38]
Chr20:32837259..41988389 [GRCh37]
Chr20:32300920..41421803 [NCBI36]
Chr20:20q11.22-13.11		 pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1 copy number loss See cases [RCV000140816] Chr20:35237946..47631818 [GRCh38]
Chr20:33825749..46260562 [GRCh37]
Chr20:33289165..45693969 [NCBI36]
Chr20:20q11.22-13.12		 pathogenic
MAFB, 600-KB DEL deletion Duane syndrome type 3 [RCV000235069] Chr20:20q12 pathogenic
NM_005461.5(MAFB):c.644del (p.Gln215fs) deletion Duane retraction syndrome 3 with or without deafness [RCV002051693]|Duane syndrome type 1 [RCV000240779] Chr20:40688207 [GRCh38]
Chr20:39316847 [GRCh37]
Chr20:20q12		 pathogenic
NM_005461.5(MAFB):c.803del (p.Asn268fs) deletion Duane retraction syndrome 3 with or without deafness [RCV000235061]|Duane syndrome type 1 [RCV000240679] Chr20:40688048 [GRCh38]
Chr20:39316688 [GRCh37]
Chr20:20q12		 pathogenic
NM_005461.5(MAFB):c.440del (p.Gly147fs) deletion Duane retraction syndrome 3 with or without deafness [RCV002051692]|Duane syndrome type 1 [RCV000240729] Chr20:40688411 [GRCh38]
Chr20:39317051 [GRCh37]
Chr20:20q12		 pathogenic
NC_000020.11:g.(?_40687489)_(40688460_?)del deletion Duane retraction syndrome 3 with or without deafness [RCV002051694]|Duane syndrome type 1 [RCV000240735] Chr20:40687489..40688460 [GRCh38]
Chr20:39316129..39317100 [GRCh37]
Chr20:20q12		 pathogenic
NM_005461.5(MAFB):c.-138G>T single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000289175] Chr20:40688988 [GRCh38]
Chr20:39317628 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.*2008T>A single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000292875]|not provided [RCV004718531] Chr20:40685871 [GRCh38]
Chr20:39314511 [GRCh37]
Chr20:20q12		 benign
NM_005461.5(MAFB):c.*929dup duplication Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000320136] Chr20:40686949..40686950 [GRCh38]
Chr20:39315589..39315590 [GRCh37]
Chr20:20q12		 benign
NM_005461.5(MAFB):c.745C>A (p.Arg249=) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000355314]|not provided [RCV000960989] Chr20:40688106 [GRCh38]
Chr20:39316746 [GRCh37]
Chr20:20q12		 benign|likely benign
NM_005461.5(MAFB):c.*64C>T single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000259239] Chr20:40687815 [GRCh38]
Chr20:39316455 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.*976G>A single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000281411] Chr20:40686903 [GRCh38]
Chr20:39315543 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.*1679C>T single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000281836] Chr20:40686200 [GRCh38]
Chr20:39314840 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.*1314A>G single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000274366] Chr20:40686565 [GRCh38]
Chr20:39315205 [GRCh37]
Chr20:20q12		 benign|likely benign
NM_005461.5(MAFB):c.*30C>A single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000316781]|not provided [RCV004703822] Chr20:40687849 [GRCh38]
Chr20:39316489 [GRCh37]
Chr20:20q12		 likely benign|uncertain significance
NM_005461.5(MAFB):c.*68G>A single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000370422]|not provided [RCV004718532] Chr20:40687811 [GRCh38]
Chr20:39316451 [GRCh37]
Chr20:20q12		 benign|likely benign
NM_005461.5(MAFB):c.*1019A>G single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000373690] Chr20:40686860 [GRCh38]
Chr20:39315500 [GRCh37]
Chr20:20q12		 benign|likely benign
NM_005461.5(MAFB):c.-310G>A single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000398975] Chr20:40689160 [GRCh38]
Chr20:39317800 [GRCh37]
Chr20:20q12		 benign|likely benign
NM_005461.5(MAFB):c.*1787T>C single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000280001] Chr20:40686092 [GRCh38]
Chr20:39314732 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.399C>T (p.His133=) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000320690] Chr20:40688452 [GRCh38]
Chr20:39317092 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.*1519C>G single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000307525] Chr20:40686360 [GRCh38]
Chr20:39315000 [GRCh37]
Chr20:20q12		 likely benign|uncertain significance
NM_005461.5(MAFB):c.*1737A>G single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000401307] Chr20:40686142 [GRCh38]
Chr20:39314782 [GRCh37]
Chr20:20q12		 benign|likely benign
NM_005461.5(MAFB):c.-75C>G single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000324089] Chr20:40688925 [GRCh38]
Chr20:39317565 [GRCh37]
Chr20:20q12		 benign|likely benign
NM_005461.5(MAFB):c.253C>A (p.Leu85Met) single nucleotide variant Inborn genetic diseases [RCV004984837]|Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000377699]|not provided [RCV001865233] Chr20:40688598 [GRCh38]
Chr20:39317238 [GRCh37]
Chr20:20q12		 benign|likely benign|uncertain significance
NM_005461.5(MAFB):c.525C>G (p.Ser175Arg) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000262870] Chr20:40688326 [GRCh38]
Chr20:39316966 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.*1255C>T single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000331819] Chr20:40686624 [GRCh38]
Chr20:39315264 [GRCh37]
Chr20:20q12		 likely benign|uncertain significance
NM_005461.5(MAFB):c.-204_-203del deletion Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000384623] Chr20:40689053..40689054 [GRCh38]
Chr20:39317693..39317694 [GRCh37]
Chr20:20q12		 likely benign
NM_005461.5(MAFB):c.*1849C>T single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000333805]|not provided [RCV004717379] Chr20:40686030 [GRCh38]
Chr20:39314670 [GRCh37]
Chr20:20q12		 benign
NM_005461.5(MAFB):c.*1803C>T single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000388390] Chr20:40686076 [GRCh38]
Chr20:39314716 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.-206T>G single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000293944]|not provided [RCV004703823] Chr20:40689056 [GRCh38]
Chr20:39317696 [GRCh37]
Chr20:20q12		 likely benign
NM_005461.5(MAFB):c.*1520C>G single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000393846] Chr20:40686359 [GRCh38]
Chr20:39314999 [GRCh37]
Chr20:20q12		 likely benign
NM_005461.5(MAFB):c.*152G>C single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000313393] Chr20:40687727 [GRCh38]
Chr20:39316367 [GRCh37]
Chr20:20q12		 benign|likely benign
NM_005461.5(MAFB):c.*1592del deletion Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000393820] Chr20:40686287 [GRCh38]
Chr20:39314927 [GRCh37]
Chr20:20q12		 benign
NM_005461.5(MAFB):c.*1212_*1213insGAGGA insertion Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000277776] Chr20:40686666..40686667 [GRCh38]
Chr20:39315306..39315307 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.*503TGTC[1] microsatellite Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000399779] Chr20:40687369..40687372 [GRCh38]
Chr20:39316009..39316012 [GRCh37]
Chr20:20q12		 likely benign
NM_005461.5(MAFB):c.362T>C (p.Leu121Pro) single nucleotide variant not provided [RCV000263923] Chr20:40688489 [GRCh38]
Chr20:39317129 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.*1210G>A single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000316762] Chr20:40686669 [GRCh38]
Chr20:39315309 [GRCh37]
Chr20:20q12		 likely benign|uncertain significance
NM_005461.5(MAFB):c.189G>A (p.Pro63=) single nucleotide variant MAFB-related disorder [RCV003910315]|Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000266628]|not provided [RCV002057735] Chr20:40688662 [GRCh38]
Chr20:39317302 [GRCh37]
Chr20:20q12		 likely benign|uncertain significance
NM_005461.5(MAFB):c.*155C>T single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000407061]|not provided [RCV004717380] Chr20:40687724 [GRCh38]
Chr20:39316364 [GRCh37]
Chr20:20q12		 benign|likely benign
NM_005461.5(MAFB):c.*377G>C single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000345530] Chr20:40687502 [GRCh38]
Chr20:39316142 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.-171C>A single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000346334] Chr20:40689021 [GRCh38]
Chr20:39317661 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.-77C>G single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000381249]|not provided [RCV004694602] Chr20:40688927 [GRCh38]
Chr20:39317567 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.*1591T>C single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000304098] Chr20:40686288 [GRCh38]
Chr20:39314928 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.*1433A>G single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000364500] Chr20:40686446 [GRCh38]
Chr20:39315086 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.*1751C>T single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000335089] Chr20:40686128 [GRCh38]
Chr20:39314768 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.*209A>C single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000367021] Chr20:40687670 [GRCh38]
Chr20:39316310 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.*881G>T single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000284498] Chr20:40686998 [GRCh38]
Chr20:39315638 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.-229C>T single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000351158] Chr20:40689079 [GRCh38]
Chr20:39317719 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.*1226C>T single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000370194] Chr20:40686653 [GRCh38]
Chr20:39315293 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.*309A>T single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000407050] Chr20:40687570 [GRCh38]
Chr20:39316210 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.-338A>G single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000297555] Chr20:40689188 [GRCh38]
Chr20:39317828 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.*1592dup duplication Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000339171] Chr20:40686286..40686287 [GRCh38]
Chr20:39314926..39314927 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.*410G>A single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000288179] Chr20:40687469 [GRCh38]
Chr20:39316109 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.*229A>G single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000310629] Chr20:40687650 [GRCh38]
Chr20:39316290 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.*795G>T single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000341955] Chr20:40687084 [GRCh38]
Chr20:39315724 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.*929del deletion Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000376716] Chr20:40686950 [GRCh38]
Chr20:39315590 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.*1551G>A single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000361043] Chr20:40686328 [GRCh38]
Chr20:39314968 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.*1019A>C single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001139064] Chr20:40686860 [GRCh38]
Chr20:39315500 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.135del (p.Cys46fs) deletion not provided [RCV000599139] Chr20:40688716 [GRCh38]
Chr20:39317356 [GRCh37]
Chr20:20q12		 pathogenic
NM_005461.5(MAFB):c.-82T>G single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001139174] Chr20:40688932 [GRCh38]
Chr20:39317572 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.206C>T (p.Ser69Leu) single nucleotide variant not provided [RCV000497479] Chr20:40688645 [GRCh38]
Chr20:39317285 [GRCh37]
Chr20:20q12		 pathogenic|likely pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_005461.5(MAFB):c.863C>T (p.Ala288Val) single nucleotide variant Inborn genetic diseases [RCV003282413]|Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005029965]|not provided [RCV003777064] Chr20:40687988 [GRCh38]
Chr20:39316628 [GRCh37]
Chr20:20q12		 uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_005461.5(MAFB):c.184A>G (p.Thr62Ala) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000995802] Chr20:40688667 [GRCh38]
Chr20:39317307 [GRCh37]
Chr20:20q12		 pathogenic
NM_005461.5(MAFB):c.72C>T (p.Phe24=) single nucleotide variant MAFB-related disorder [RCV003895586]|not provided [RCV000919230] Chr20:40688779 [GRCh38]
Chr20:39317419 [GRCh37]
Chr20:20q12		 likely benign
NM_005461.5(MAFB):c.173C>G (p.Thr58Arg) single nucleotide variant Carpal osteolysis [RCV000845260]|Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV002290978] Chr20:40688678 [GRCh38]
Chr20:39317318 [GRCh37]
Chr20:20q12		 likely pathogenic
NM_005461.5(MAFB):c.648C>T (p.Leu216=) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001136923]|not provided [RCV002558299] Chr20:40688203 [GRCh38]
Chr20:39316843 [GRCh37]
Chr20:20q12		 likely benign|uncertain significance
NM_005461.5(MAFB):c.-76C>A single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001139173] Chr20:40688926 [GRCh38]
Chr20:39317566 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.185C>T (p.Thr62Ile) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000990302] Chr20:40688666 [GRCh38]
Chr20:39317306 [GRCh37]
Chr20:20q12		 pathogenic
NM_005461.5(MAFB):c.526G>A (p.Ala176Thr) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV002481760]|not provided [RCV001248840] Chr20:40688325 [GRCh38]
Chr20:39316965 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.*175G>A single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001143499] Chr20:40687704 [GRCh38]
Chr20:39316344 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.-269G>C single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001143599] Chr20:40689119 [GRCh38]
Chr20:39317759 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.-297G>T single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001143600] Chr20:40689147 [GRCh38]
Chr20:39317787 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.714C>T (p.Arg238=) single nucleotide variant MAFB-related disorder [RCV003916206]|not provided [RCV000966088] Chr20:40688137 [GRCh38]
Chr20:39316777 [GRCh37]
Chr20:20q12		 benign|likely benign
NM_005461.5(MAFB):c.153A>G (p.Pro51=) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001139172] Chr20:40688698 [GRCh38]
Chr20:39317338 [GRCh37]
Chr20:20q12		 uncertain significance
NC_000020.11:g.40689482G>C single nucleotide variant not provided [RCV001530544] Chr20:40689482 [GRCh38]
Chr20:39318122 [GRCh37]
Chr20:20q12		 benign
NM_005461.5(MAFB):c.*415G>A single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001141676] Chr20:40687464 [GRCh38]
Chr20:39316104 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.-222G>T single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001141796] Chr20:40689072 [GRCh38]
Chr20:39317712 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.-225C>G single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001141797] Chr20:40689075 [GRCh38]
Chr20:39317715 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.*1690G>A single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001143395] Chr20:40686189 [GRCh38]
Chr20:39314829 [GRCh37]
Chr20:20q12		 benign
NM_005461.5(MAFB):c.393C>A (p.His131Gln) single nucleotide variant MAFB-related disorder [RCV003433021]|Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001136925]|Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV002491409]|not provided [RCV001856748] Chr20:40688458 [GRCh38]
Chr20:39317098 [GRCh37]
Chr20:20q12		 benign|uncertain significance
NM_005461.5(MAFB):c.368G>C (p.Ser123Thr) single nucleotide variant Inborn genetic diseases [RCV003163295]|Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001136926]|not provided [RCV001856749] Chr20:40688483 [GRCh38]
Chr20:39317123 [GRCh37]
Chr20:20q12		 likely benign|uncertain significance
NM_005461.5(MAFB):c.329C>A (p.Ala110Glu) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001136927] Chr20:40688522 [GRCh38]
Chr20:39317162 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.*565C>T single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001141675] Chr20:40687314 [GRCh38]
Chr20:39315954 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.*1171A>C single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001139063] Chr20:40686708 [GRCh38]
Chr20:39315348 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.224C>A (p.Pro75Gln) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001139171] Chr20:40688627 [GRCh38]
Chr20:39317267 [GRCh37]
Chr20:20q12		 uncertain significance
Single allele deletion Focal-onset seizure [RCV001004039] Chr20:34980430..46806549 [GRCh37]
Chr20:20q11.23-13.13		 likely pathogenic
NM_005461.5(MAFB):c.*1519C>A single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001136820] Chr20:40686360 [GRCh38]
Chr20:39315000 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.420C>T (p.His140=) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001136924] Chr20:40688431 [GRCh38]
Chr20:39317071 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.197C>T (p.Ser66Phe) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001004935] Chr20:40688654 [GRCh38]
Chr20:39317294 [GRCh37]
Chr20:20q12		 likely pathogenic
NM_005461.5(MAFB):c.*791C>G single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001141674] Chr20:40687088 [GRCh38]
Chr20:39315728 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.*367G>A single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001141677] Chr20:40687512 [GRCh38]
Chr20:39316152 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.-130C>T single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001141794] Chr20:40688980 [GRCh38]
Chr20:39317620 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.-211A>C single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001141795] Chr20:40689061 [GRCh38]
Chr20:39317701 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.179T>A (p.Leu60His) single nucleotide variant not provided [RCV004798328] Chr20:40688672 [GRCh38]
Chr20:39317312 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.577C>T (p.His193Tyr) single nucleotide variant Inborn genetic diseases [RCV004046759]|Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV002486701]|not provided [RCV002023213] Chr20:40688274 [GRCh38]
Chr20:39316914 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.457G>C (p.Asp153His) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV002497943]|not provided [RCV001993934] Chr20:40688394 [GRCh38]
Chr20:39317034 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.955C>T (p.Pro319Ser) single nucleotide variant not provided [RCV001924626] Chr20:40687896 [GRCh38]
Chr20:39316536 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.617G>A (p.Ser206Asn) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV002479836]|not provided [RCV002032271] Chr20:40688234 [GRCh38]
Chr20:39316874 [GRCh37]
Chr20:20q12		 uncertain significance
NC_000020.10:g.(?_39316519)_(39317490_?)del deletion not provided [RCV001905876] Chr20:39316519..39317490 [GRCh37]
Chr20:20q12		 pathogenic
NM_005461.5(MAFB):c.89A>C (p.Asp30Ala) single nucleotide variant not provided [RCV001995607] Chr20:40688762 [GRCh38]
Chr20:39317402 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.890A>T (p.Lys297Met) single nucleotide variant not provided [RCV002046405] Chr20:40687961 [GRCh38]
Chr20:39316601 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.942C>T (p.Asp314=) single nucleotide variant not provided [RCV002152166] Chr20:40687909 [GRCh38]
Chr20:39316549 [GRCh37]
Chr20:20q12		 likely benign
NM_005461.5(MAFB):c.639C>T (p.Asp213=) single nucleotide variant not provided [RCV002146641] Chr20:40688212 [GRCh38]
Chr20:39316852 [GRCh37]
Chr20:20q12		 likely benign
NM_005461.5(MAFB):c.471G>T (p.Pro157=) single nucleotide variant not provided [RCV002210274] Chr20:40688380 [GRCh38]
Chr20:39317020 [GRCh37]
Chr20:20q12		 likely benign
NM_005461.5(MAFB):c.423G>C (p.Pro141=) single nucleotide variant MAFB-related disorder [RCV003896057]|not provided [RCV002203662] Chr20:40688428 [GRCh38]
Chr20:39317068 [GRCh37]
Chr20:20q12		 likely benign
NM_005461.5(MAFB):c.294G>C (p.Glu98Asp) single nucleotide variant Inborn genetic diseases [RCV003015298]|MAFB-related disorder [RCV003951051]|Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV002499959]|not provided [RCV002103788] Chr20:40688557 [GRCh38]
Chr20:39317197 [GRCh37]
Chr20:20q12		 likely benign|uncertain significance
NM_005461.5(MAFB):c.342G>T (p.Ser114=) single nucleotide variant not provided [RCV002178513] Chr20:40688509 [GRCh38]
Chr20:39317149 [GRCh37]
Chr20:20q12		 likely benign
NM_005461.5(MAFB):c.542A>T (p.Gln181Leu) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV002500388]|not provided [RCV002183765] Chr20:40688309 [GRCh38]
Chr20:39316949 [GRCh37]
Chr20:20q12		 benign|likely benign
NM_005461.5(MAFB):c.176C>T (p.Pro59Leu) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005038839]|not provided [RCV004794882] Chr20:40688675 [GRCh38]
Chr20:39317315 [GRCh37]
Chr20:20q12		 pathogenic|likely pathogenic
NM_005461.5(MAFB):c.394C>T (p.His132Tyr) single nucleotide variant not provided [RCV003012351] Chr20:40688457 [GRCh38]
Chr20:39317097 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.448G>A (p.Val150Met) single nucleotide variant Inborn genetic diseases [RCV002777243]|not provided [RCV003777738] Chr20:40688403 [GRCh38]
Chr20:39317043 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.173C>T (p.Thr58Ile) single nucleotide variant not provided [RCV002750109] Chr20:40688678 [GRCh38]
Chr20:39317318 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.748G>T (p.Gly250Cys) single nucleotide variant not provided [RCV002841988] Chr20:40688103 [GRCh38]
Chr20:39316743 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.607G>A (p.Gly203Ser) single nucleotide variant not provided [RCV002863775] Chr20:40688244 [GRCh38]
Chr20:39316884 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.910T>G (p.Ser304Ala) single nucleotide variant MAFB-related disorder [RCV003953878]|not provided [RCV003078858] Chr20:40687941 [GRCh38]
Chr20:39316581 [GRCh37]
Chr20:20q12		 likely benign
NM_005461.5(MAFB):c.289C>T (p.Pro97Ser) single nucleotide variant not provided [RCV002639222] Chr20:40688562 [GRCh38]
Chr20:39317202 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.170C>A (p.Ser57Tyr) single nucleotide variant not provided [RCV002999692] Chr20:40688681 [GRCh38]
Chr20:39317321 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.138C>T (p.Cys46=) single nucleotide variant not provided [RCV002591700] Chr20:40688713 [GRCh38]
Chr20:39317353 [GRCh37]
Chr20:20q12		 likely benign
NM_005461.5(MAFB):c.55G>C (p.Glu19Gln) single nucleotide variant Inborn genetic diseases [RCV004642090]|not provided [RCV002975721] Chr20:40688796 [GRCh38]
Chr20:39317436 [GRCh37]
Chr20:20q12		 benign|likely benign|uncertain significance
NM_005461.5(MAFB):c.227C>A (p.Thr76Asn) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005034354]|not provided [RCV002639610] Chr20:40688624 [GRCh38]
Chr20:39317264 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.187C>T (p.Pro63Ser) single nucleotide variant not provided [RCV002867230] Chr20:40688664 [GRCh38]
Chr20:39317304 [GRCh37]
Chr20:20q12		 pathogenic
NM_005461.5(MAFB):c.905C>T (p.Ala302Val) single nucleotide variant not provided [RCV003002189] Chr20:40687946 [GRCh38]
Chr20:39316586 [GRCh37]
Chr20:20q12		 likely benign
NM_005461.5(MAFB):c.886G>A (p.Val296Ile) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005028101]|not provided [RCV003002191] Chr20:40687965 [GRCh38]
Chr20:39316605 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.694A>G (p.Thr232Ala) single nucleotide variant Inborn genetic diseases [RCV002888968] Chr20:40688157 [GRCh38]
Chr20:39316797 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.865C>T (p.Arg289Cys) single nucleotide variant not provided [RCV002593876] Chr20:40687986 [GRCh38]
Chr20:39316626 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.117G>A (p.Ala39=) single nucleotide variant not provided [RCV002667117] Chr20:40688734 [GRCh38]
Chr20:39317374 [GRCh37]
Chr20:20q12		 likely benign
NM_005461.5(MAFB):c.389C>T (p.Ala130Val) single nucleotide variant Inborn genetic diseases [RCV004632036]|not provided [RCV002631752] Chr20:40688462 [GRCh38]
Chr20:39317102 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.121C>A (p.Arg41Ser) single nucleotide variant not provided [RCV002807003] Chr20:40688730 [GRCh38]
Chr20:39317370 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.321G>A (p.Ala107=) single nucleotide variant not provided [RCV002717091] Chr20:40688530 [GRCh38]
Chr20:39317170 [GRCh37]
Chr20:20q12		 likely benign
NM_005461.5(MAFB):c.578A>C (p.His193Pro) single nucleotide variant Inborn genetic diseases [RCV002747432] Chr20:40688273 [GRCh38]
Chr20:39316913 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.437C>T (p.Pro146Leu) single nucleotide variant Inborn genetic diseases [RCV002673633] Chr20:40688414 [GRCh38]
Chr20:39317054 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.6C>T (p.Ala2=) single nucleotide variant MAFB-related disorder [RCV003896255]|not provided [RCV002608255] Chr20:40688845 [GRCh38]
Chr20:39317485 [GRCh37]
Chr20:20q12		 likely benign
NM_005461.5(MAFB):c.834G>C (p.Glu278Asp) single nucleotide variant not provided [RCV002635732] Chr20:40688017 [GRCh38]
Chr20:39316657 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.174A>G (p.Thr58=) single nucleotide variant not provided [RCV002653593] Chr20:40688677 [GRCh38]
Chr20:39317317 [GRCh37]
Chr20:20q12		 likely benign
NM_005461.5(MAFB):c.203C>T (p.Pro68Leu) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV003227584] Chr20:40688648 [GRCh38]
Chr20:39317288 [GRCh37]
Chr20:20q12		 likely pathogenic
NM_005461.5(MAFB):c.581_618delinsGGGGAGAA (p.Ala194_Ser206delinsGlyGlyGlu) indel not provided [RCV003219066] Chr20:40688233..40688270 [GRCh38]
Chr20:39316873..39316910 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.494A>G (p.His165Arg) single nucleotide variant Inborn genetic diseases [RCV003283311] Chr20:40688357 [GRCh38]
Chr20:39316997 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.11A>G (p.Glu4Gly) single nucleotide variant Orofacial cleft 1 [RCV003321463] Chr20:40688840 [GRCh38]
Chr20:39317480 [GRCh37]
Chr20:20q12		 likely pathogenic
NM_005461.5(MAFB):c.188C>T (p.Pro63Leu) single nucleotide variant MAFB-related disorder [RCV003418744]|not provided [RCV003553914] Chr20:40688663 [GRCh38]
Chr20:39317303 [GRCh37]
Chr20:20q12		 pathogenic
NM_005461.5(MAFB):c.237G>A (p.Lys79=) single nucleotide variant not provided [RCV003570121] Chr20:40688614 [GRCh38]
Chr20:39317254 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.705G>A (p.Glu235=) single nucleotide variant not provided [RCV003872832] Chr20:40688146 [GRCh38]
Chr20:39316786 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.570C>G (p.Pro190=) single nucleotide variant not provided [RCV003440401] Chr20:40688281 [GRCh38]
Chr20:39316921 [GRCh37]
Chr20:20q12		 likely benign
NM_005461.5(MAFB):c.745C>G (p.Arg249Gly) single nucleotide variant MAFB-related disorder [RCV003402125] Chr20:40688106 [GRCh38]
Chr20:39316746 [GRCh37]
Chr20:20q12		 likely pathogenic
GRCh37/hg19 20q12(chr20:39294079-39611802)x1 copy number loss not provided [RCV003483363] Chr20:39294079..39611802 [GRCh37]
Chr20:20q12		 likely pathogenic
NM_005461.5(MAFB):c.452C>T (p.Ala151Val) single nucleotide variant not specified [RCV003479828] Chr20:40688399 [GRCh38]
Chr20:39317039 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.565G>A (p.Gly189Arg) single nucleotide variant MAFB-related disorder [RCV003392882]|not provided [RCV003738456]|not specified [RCV003402688] Chr20:40688286 [GRCh38]
Chr20:39316926 [GRCh37]
Chr20:20q12		 benign|uncertain significance
NM_005461.5(MAFB):c.613G>A (p.Gly205Ser) single nucleotide variant not provided [RCV003848891] Chr20:40688238 [GRCh38]
Chr20:39316878 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.866G>A (p.Arg289His) single nucleotide variant not provided [RCV003579239] Chr20:40687985 [GRCh38]
Chr20:39316625 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.383G>T (p.Arg128Leu) single nucleotide variant not provided [RCV003544679] Chr20:40688468 [GRCh38]
Chr20:39317108 [GRCh37]
Chr20:20q12		 benign
NM_005461.5(MAFB):c.19A>G (p.Met7Val) single nucleotide variant not provided [RCV003829619] Chr20:40688832 [GRCh38]
Chr20:39317472 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.194G>T (p.Ser65Ile) single nucleotide variant not provided [RCV003560140] Chr20:40688657 [GRCh38]
Chr20:39317297 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.511C>T (p.Pro171Ser) single nucleotide variant not provided [RCV003854882] Chr20:40688340 [GRCh38]
Chr20:39316980 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.888C>G (p.Val296=) single nucleotide variant MAFB-related disorder [RCV003909071]|not provided [RCV003679340] Chr20:40687963 [GRCh38]
Chr20:39316603 [GRCh37]
Chr20:20q12		 likely benign|uncertain significance
NM_005461.5(MAFB):c.708G>A (p.Val236=) single nucleotide variant not provided [RCV003864284] Chr20:40688143 [GRCh38]
Chr20:39316783 [GRCh37]
Chr20:20q12		 likely benign
NM_005461.5(MAFB):c.821T>C (p.Ile274Thr) single nucleotide variant Brown syndrome [RCV003983800] Chr20:40688030 [GRCh38]
Chr20:39316670 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.585G>A (p.Thr195=) single nucleotide variant not provided [RCV003675193] Chr20:40688266 [GRCh38]
Chr20:39316906 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.603G>C (p.Ala201=) single nucleotide variant not provided [RCV003870170] Chr20:40688248 [GRCh38]
Chr20:39316888 [GRCh37]
Chr20:20q12		 likely benign
NM_005461.5(MAFB):c.400C>T (p.His134Tyr) single nucleotide variant not provided [RCV003567843] Chr20:40688451 [GRCh38]
Chr20:39317091 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.405T>A (p.His135Gln) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005030321]|not provided [RCV003847040] Chr20:40688446 [GRCh38]
Chr20:39317086 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.493C>T (p.His165Tyr) single nucleotide variant not provided [RCV003841149] Chr20:40688358 [GRCh38]
Chr20:39316998 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.436C>G (p.Pro146Ala) single nucleotide variant not provided [RCV003862519] Chr20:40688415 [GRCh38]
Chr20:39317055 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.340T>C (p.Ser114Pro) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005037016]|not provided [RCV003732420] Chr20:40688511 [GRCh38]
Chr20:39317151 [GRCh37]
Chr20:20q12		 likely benign|uncertain significance
NM_005461.5(MAFB):c.920G>C (p.Arg307Thr) single nucleotide variant not provided [RCV003677101] Chr20:40687931 [GRCh38]
Chr20:39316571 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.528C>T (p.Ala176=) single nucleotide variant not provided [RCV003820439] Chr20:40688323 [GRCh38]
Chr20:39316963 [GRCh37]
Chr20:20q12		 likely benign
NM_005461.5(MAFB):c.11A>C (p.Glu4Ala) single nucleotide variant MAFB-related disorder [RCV003896481] Chr20:40688840 [GRCh38]
Chr20:39317480 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.406C>T (p.His136Tyr) single nucleotide variant MAFB-related disorder [RCV003911587] Chr20:40688445 [GRCh38]
Chr20:39317085 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.246C>G (p.Leu82=) single nucleotide variant MAFB-related disorder [RCV003959377] Chr20:40688605 [GRCh38]
Chr20:39317245 [GRCh37]
Chr20:20q12		 likely benign
NM_005461.5(MAFB):c.-1G>T single nucleotide variant MAFB-related disorder [RCV003914715] Chr20:40688851 [GRCh38]
Chr20:39317491 [GRCh37]
Chr20:20q12		 benign
NM_005461.5(MAFB):c.337G>C (p.Gly113Arg) single nucleotide variant MAFB-related disorder [RCV003899457] Chr20:40688514 [GRCh38]
Chr20:39317154 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.270C>T (p.Ser90=) single nucleotide variant MAFB-related disorder [RCV003934402] Chr20:40688581 [GRCh38]
Chr20:39317221 [GRCh37]
Chr20:20q12		 likely benign
NM_005461.5(MAFB):c.114C>A (p.Arg38=) single nucleotide variant MAFB-related disorder [RCV003944027] Chr20:40688737 [GRCh38]
Chr20:39317377 [GRCh37]
Chr20:20q12		 likely benign
NM_005461.5(MAFB):c.*9C>T single nucleotide variant MAFB-related disorder [RCV003971449] Chr20:40687870 [GRCh38]
Chr20:39316510 [GRCh37]
Chr20:20q12		 likely benign
NM_005461.5(MAFB):c.781C>T (p.Gln261Ter) single nucleotide variant not provided [RCV004547148] Chr20:40688070 [GRCh38]
Chr20:39316710 [GRCh37]
Chr20:20q12		 likely pathogenic
NM_005461.5(MAFB):c.176C>G (p.Pro59Arg) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV004566434] Chr20:40688675 [GRCh38]
Chr20:39317315 [GRCh37]
Chr20:20q12		 likely pathogenic
NM_005461.5(MAFB):c.53T>C (p.Met18Thr) single nucleotide variant not specified [RCV004702761] Chr20:40688798 [GRCh38]
Chr20:39317438 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.341C>T (p.Ser114Leu) single nucleotide variant Inborn genetic diseases [RCV004990425] Chr20:40688510 [GRCh38]
Chr20:39317150 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.319G>A (p.Ala107Thr) single nucleotide variant Inborn genetic diseases [RCV004990423] Chr20:40688532 [GRCh38]
Chr20:39317172 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.223C>G (p.Pro75Ala) single nucleotide variant Inborn genetic diseases [RCV004990424] Chr20:40688628 [GRCh38]
Chr20:39317268 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.115G>A (p.Ala39Thr) single nucleotide variant Inborn genetic diseases [RCV004990422] Chr20:40688736 [GRCh38]
Chr20:39317376 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.671T>A (p.Leu224Gln) single nucleotide variant Inborn genetic diseases [RCV004990421] Chr20:40688180 [GRCh38]
Chr20:39316820 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.961T>C (p.Phe321Leu) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005032530] Chr20:40687890 [GRCh38]
Chr20:39316530 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.19A>C (p.Met7Leu) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005032536] Chr20:40688832 [GRCh38]
Chr20:39317472 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.847G>C (p.Glu283Gln) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005026940] Chr20:40688004 [GRCh38]
Chr20:39316644 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.136T>G (p.Cys46Gly) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005026946] Chr20:40688715 [GRCh38]
Chr20:39317355 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.865C>A (p.Arg289Ser) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005026939] Chr20:40687986 [GRCh38]
Chr20:39316626 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.112C>G (p.Arg38Gly) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005026947] Chr20:40688739 [GRCh38]
Chr20:39317379 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.252T>G (p.Asp84Glu) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005026945] Chr20:40688599 [GRCh38]
Chr20:39317239 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.392A>C (p.His131Pro) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005032532] Chr20:40688459 [GRCh38]
Chr20:39317099 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.106C>G (p.Leu36Val) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005032534] Chr20:40688745 [GRCh38]
Chr20:39317385 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.62T>C (p.Val21Ala) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005032535] Chr20:40688789 [GRCh38]
Chr20:39317429 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.127G>A (p.Gly43Ser) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005032533] Chr20:40688724 [GRCh38]
Chr20:39317364 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.445G>A (p.Gly149Ser) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005026944] Chr20:40688406 [GRCh38]
Chr20:39317046 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.970T>C (p.Ter324Arg) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005026938] Chr20:40687881 [GRCh38]
Chr20:39316521 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.769T>A (p.Tyr257Asn) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005026941] Chr20:40688082 [GRCh38]
Chr20:39316722 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.529G>T (p.Ala177Ser) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005026943] Chr20:40688322 [GRCh38]
Chr20:39316962 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.22G>C (p.Gly8Arg) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005026948] Chr20:40688829 [GRCh38]
Chr20:39317469 [GRCh37]
Chr20:20q12		 uncertain significance
NM_005461.5(MAFB):c.539C>A (p.Ala180Glu) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005026942] Chr20:40688312 [GRCh38]
Chr20:39316952 [GRCh37]
Chr20:20q12		 uncertain significance
miRNA Target Status (No longer updated)

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR130Ahsa-miR-130a-3pMirtarbaseexternal_infoLuciferase reporter assay//Reporter assayFunctional MTI16549775
MIR130Ahsa-miR-130a-5pMirecordsexternal_infoNANA16549775

Predicted Target Of
Summary Value
Count of predictions:1207
Count of miRNA genes:615
Interacting mature miRNAs:686
Transcripts:ENST00000373313, ENST00000396967
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1300007BP29_HBlood pressure QTL 29 (human)Blood pressurehypertension susceptibility203653600562536005Human

Markers in Region
RH103094  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372039,314,653 - 39,314,831UniSTSGRCh37
Build 362038,748,067 - 38,748,245RGDNCBI36
Celera2036,025,129 - 36,025,307RGD
Cytogenetic Map20q11.2-q13.1UniSTS
HuRef2036,052,594 - 36,052,772UniSTS
GeneMap99-GB4 RH Map20225.86UniSTS
G06850  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372039,314,614 - 39,314,767UniSTSGRCh37
Build 362038,748,028 - 38,748,181RGDNCBI36
Celera2036,025,090 - 36,025,243RGD
Cytogenetic Map20q11.2-q13.1UniSTS
HuRef2036,052,555 - 36,052,708UniSTS
PMC180917P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372039,316,585 - 39,316,950UniSTSGRCh37
Build 362038,749,999 - 38,750,364RGDNCBI36
Celera2036,027,061 - 36,027,426RGD
HuRef2036,054,527 - 36,054,892UniSTS
MAFB  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372039,315,916 - 39,316,175UniSTSGRCh37
Celera2036,026,392 - 36,026,651UniSTS
HuRef2036,053,857 - 36,054,116UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2410 2788 2237 4967 1721 2320 6 619 1586 459 2266 6918 6119 51 3731 1 837 1722 1594 175 1

Sequence


Ensembl Acc Id: ENST00000373313   ⟹   ENSP00000362410
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2040,685,848 - 40,689,236 (-)Ensembl
RefSeq Acc Id: NM_005461   ⟹   NP_005452
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382040,685,848 - 40,689,236 (-)NCBI
GRCh372039,314,488 - 39,317,880 (-)NCBI
Build 362038,747,929 - 38,751,290 (-)NCBI Archive
HuRef2036,052,429 - 36,055,822 (-)NCBI
CHM1_12039,218,912 - 39,222,304 (-)NCBI
T2T-CHM13v2.02042,417,334 - 42,420,722 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_005452 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD30106 (Get FASTA)   NCBI Sequence Viewer  
  AAH28098 (Get FASTA)   NCBI Sequence Viewer  
  AAH36689 (Get FASTA)   NCBI Sequence Viewer  
  BAG51303 (Get FASTA)   NCBI Sequence Viewer  
  EAW76000 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000362410
  ENSP00000362410.2
GenBank Protein Q9Y5Q3 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_005452   ⟸   NM_005461
- UniProtKB: B3KNE1 (UniProtKB/Swiss-Prot),   Q9H1F1 (UniProtKB/Swiss-Prot),   Q9Y5Q3 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000362410   ⟸   ENST00000373313
Protein Domains
bZIP

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y5Q3-F1-model_v2 AlphaFold Q9Y5Q3 1-323 view protein structure

Promoters
RGD ID:6798750
Promoter ID:HG_KWN:39429
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000396967
Position:
Human AssemblyChrPosition (strand)Source
Build 362038,750,999 - 38,751,499 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6408 AgrOrtholog
COSMIC MAFB COSMIC
Ensembl Genes ENSG00000204103 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000373313 ENTREZGENE
  ENST00000373313.3 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.5.170 UniProtKB/Swiss-Prot
GTEx ENSG00000204103 GTEx
HGNC ID HGNC:6408 ENTREZGENE
Human Proteome Map MAFB Human Proteome Map
InterPro bZIP UniProtKB/Swiss-Prot
  bZIP_Maf UniProtKB/Swiss-Prot
  bZIP_sf UniProtKB/Swiss-Prot
  Maf_TF_N UniProtKB/Swiss-Prot
  TF_DNA-bd_sf UniProtKB/Swiss-Prot
  Transciption_factor_Maf_fam UniProtKB/Swiss-Prot
KEGG Report hsa:9935 UniProtKB/Swiss-Prot
NCBI Gene 9935 ENTREZGENE
OMIM 608968 OMIM
PANTHER PTHR10129 UniProtKB/Swiss-Prot
  PTHR10129:SF10 UniProtKB/Swiss-Prot
Pfam bZIP_Maf UniProtKB/Swiss-Prot
  Maf_N UniProtKB/Swiss-Prot
PharmGKB PA30535 PharmGKB
PROSITE BZIP UniProtKB/Swiss-Prot
SMART BRLZ UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47454 UniProtKB/Swiss-Prot
  SSF57959 UniProtKB/Swiss-Prot
UniProt B3KNE1 ENTREZGENE
  L8ECC4_HUMAN UniProtKB/TrEMBL
  MAFB_HUMAN UniProtKB/Swiss-Prot
  Q9H1F1 ENTREZGENE
  Q9Y5Q3 ENTREZGENE
UniProt Secondary B3KNE1 UniProtKB/Swiss-Prot
  Q9H1F1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-17 MAFB  MAF bZIP transcription factor B  MAFB  v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B  Symbol and/or name change 5135510 APPROVED
2013-07-16 MAFB  v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B  MAFB  v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian)  Symbol and/or name change 5135510 APPROVED