ATP6V1B2 (ATPase H+ transporting V1 subunit B2) - Rat Genome Database

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Gene: ATP6V1B2 (ATPase H+ transporting V1 subunit B2) Homo sapiens
Analyze
Symbol: ATP6V1B2
Name: ATPase H+ transporting V1 subunit B2
RGD ID: 732120
HGNC Page HGNC:854
Description: Predicted to enable proton-transporting ATPase activity, rotational mechanism. Predicted to be involved in vacuolar acidification. Located in apical plasma membrane and intracellular membrane-bounded organelle. Part of vacuolar proton-transporting V-type ATPase, V1 domain. Implicated in autosomal dominant congenital deafness with onychodystrophy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ATP6B1B2; ATP6B2; atpase, h+ transporting, lysosomal (vacuolar proton pump), beta 56/58 kda, isoform 2; ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2; DOOD; endomembrane proton pump 58 kDa subunit; H+ transporting two-sector ATPase; HO57; testicular secretory protein Li 65; V-ATPase B2 subunit; V-ATPase subunit B 2; V-type proton ATPase subunit B, brain isoform; vacuolar H+-ATPase 56,000 subunit; vacuolar proton pump subunit B 2; VATB; Vma2; VPP3; ZLS2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: AL513122.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38820,197,381 - 20,221,696 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl820,197,381 - 20,230,399 (+)EnsemblGRCh38hg38GRCh38
GRCh37820,054,892 - 20,079,207 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36820,098,984 - 20,123,487 (+)NCBINCBI36Build 36hg18NCBI36
Build 34820,098,983 - 20,123,485NCBI
Celera819,017,312 - 19,041,815 (+)NCBICelera
Cytogenetic Map8p21.3NCBI
HuRef818,594,885 - 18,619,391 (+)NCBIHuRef
CHM1_1820,256,468 - 20,280,970 (+)NCBICHM1_1
T2T-CHM13v2.0820,462,474 - 20,486,792 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2,2-tetramine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dimethoxyphenol  (EXP)
2-amino-14,16-dimethyloctadecan-3-ol  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (EXP,ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
acrolein  (EXP)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
antimycin A  (EXP)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
azoxystrobin  (EXP)
benzatropine  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
bisphenol F  (EXP,ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
caffeine  (ISO)
calcidiol  (ISO)
carbon nanotube  (ISO)
chloropicrin  (EXP)
chlorpromazine  (ISO)
chlorpyrifos  (ISO)
clozapine  (EXP,ISO)
cobalt dichloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
CU-O LINKAGE  (EXP)
deguelin  (EXP)
deoxynivalenol  (EXP)
diethyl malate  (EXP)
diethylstilbestrol  (ISO)
endosulfan  (ISO)
ethanol  (ISO)
fenpyroximate  (EXP)
flutamide  (ISO)
folic acid  (ISO)
furfural  (EXP)
genistein  (ISO)
gentamycin  (ISO)
ginsenoside Rb1  (EXP)
haloperidol  (ISO)
indometacin  (ISO)
ivermectin  (EXP)
lead diacetate  (ISO)
leflunomide  (EXP)
methamphetamine  (ISO)
methapyrilene  (ISO)
Methylazoxymethanol acetate  (ISO)
microcystin-LR  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
ozone  (EXP)
paracetamol  (ISO)
phenobarbital  (ISO)
phenylpropanolamine  (ISO)
picoxystrobin  (EXP)
quartz  (ISO)
resveratrol  (EXP)
rotenone  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sodium chloride  (EXP)
T-2 toxin  (ISO)
tebufenpyrad  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
zinc dichloride  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
11 pairs of ribs  (IAGP)
Abnormal cardiovascular system morphology  (IAGP)
Abnormal external genitalia morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal finger morphology  (IAGP)
Abnormal fingernail morphology  (IAGP)
Abnormal placental membrane morphology  (IAGP)
Abnormal toe morphology  (IAGP)
Abnormal toenail morphology  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the urinary system  (IAGP)
Absent fifth fingernail  (IAGP)
Absent fingernail  (IAGP)
Absent middle phalanx of 5th finger  (IAGP)
Absent thumbnail  (IAGP)
Absent toenail  (IAGP)
Adrenal hyperplasia  (IAGP)
Ambiguous genitalia  (IAGP)
Anonychia  (IAGP)
Anterior open-bite malocclusion  (IAGP)
Anterior plagiocephaly  (IAGP)
Anteverted nares  (IAGP)
Aplasia cutis congenita  (IAGP)
Aplasia/Hypoplasia of the nails  (IAGP)
Aplasia/Hypoplasia of the phalanges of the 2nd toe  (IAGP)
Arrhinencephaly  (IAGP)
Aspiration pneumonia  (IAGP)
Atresia of the external auditory canal  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bifid nasal tip  (IAGP)
Bifid uvula  (IAGP)
Bilateral ptosis  (IAGP)
Bilateral sensorineural hearing impairment  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Bilateral triphalangeal thumbs  (IAGP)
Brachycephaly  (IAGP)
Brachydactyly  (IAGP)
Broad alveolar ridges  (IAGP)
Broad nasal tip  (IAGP)
Bulbous nose  (IAGP)
Capillary hemangioma  (IAGP)
Cataract  (IAGP)
Cleft palate  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coarse facial features  (IAGP)
Congenital hypothyroidism  (IAGP)
Congenital nystagmus  (IAGP)
Congenital onset  (IAGP)
Conical tooth  (IAGP)
Cutaneous syndactyly  (IAGP)
Dandy-Walker malformation  (IAGP)
Deep palmar crease  (IAGP)
Deep philtrum  (IAGP)
Deep plantar creases  (IAGP)
Delayed eruption of permanent teeth  (IAGP)
Dolichocephaly  (IAGP)
Double outlet right ventricle  (IAGP)
Downslanted palpebral fissures  (IAGP)
Downturned corners of mouth  (IAGP)
EEG abnormality  (IAGP)
Epicanthus  (IAGP)
Equinovarus deformity  (IAGP)
Facial hypertrichosis  (IAGP)
Feeding difficulties  (IAGP)
Focal impaired awareness seizure  (IAGP)
Frontal bossing  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hyperpigmentation  (IAGP)
Generalized hypertrichosis  (IAGP)
Generalized hypotonia  (IAGP)
Gingival fibromatosis  (IAGP)
Gingival overgrowth  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hallux valgus  (IAGP)
Hemivertebrae  (IAGP)
Hepatomegaly  (IAGP)
Hidrotic ectodermal dysplasia  (IAGP)
High forehead  (IAGP)
High palate  (IAGP)
Hirsutism  (IAGP)
Hydronephrosis  (IAGP)
Hypertelorism  (IAGP)
Hypertrichosis  (IAGP)
Hypodontia  (IAGP)
Hypoplastic fingernail  (IAGP)
Hypoplastic toenails  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Increased urine alpha-ketoglutarate concentration  (IAGP)
Infantile muscular hypotonia  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Joint hypermobility  (IAGP)
Kyphosis  (IAGP)
Large fleshy ears  (IAGP)
Long eyelashes  (IAGP)
Long philtrum  (IAGP)
Low anterior hairline  (IAGP)
Low-set ears  (IAGP)
Lumbar scoliosis  (IAGP)
Macrodontia of permanent maxillary central incisor  (IAGP)
Macroglossia  (IAGP)
Malalignment of the great toenail  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Myoclonus  (IAGP)
Myopia  (IAGP)
Nail dystrophy  (IAGP)
Narrow palate  (IAGP)
Nephrocalcinosis  (IAGP)
Neurodevelopmental delay  (IAGP)
Oligodontia  (IAGP)
Open mouth  (IAGP)
Optic atrophy  (IAGP)
Overtubulated long bones  (IAGP)
Peripheral neuropathy  (IAGP)
Pes cavus  (IAGP)
Pes planus  (IAGP)
Polyhydramnios  (IAGP)
Polymicrogyria  (IAGP)
Poor speech  (IAGP)
Poor suck  (IAGP)
Prominent nasal septum  (IAGP)
Prominent occiput  (IAGP)
Respiratory distress  (IAGP)
Sagittal craniosynostosis  (IAGP)
Seizure  (IAGP)
Selective tooth agenesis  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe sensorineural hearing impairment  (IAGP)
Short 5th finger  (IAGP)
Short distal phalanx of finger  (IAGP)
Short lingual frenulum  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Short thumb  (IAGP)
Sirenomelia  (IAGP)
Small cerebellar cortex  (IAGP)
Small nail  (IAGP)
Small, conical teeth  (IAGP)
Soft skin  (IAGP)
Spina bifida occulta  (IAGP)
Splenomegaly  (IAGP)
Strabismus  (IAGP)
Supernumerary tooth  (IAGP)
Synophrys  (IAGP)
Telecanthus  (IAGP)
Thick eyebrow  (IAGP)
Thick lower lip vermilion  (IAGP)
Thick vermilion border  (IAGP)
Thickened ears  (IAGP)
Thickened nuchal skin fold  (IAGP)
Thin upper lip vermilion  (IAGP)
Thrombocytosis  (IAGP)
Toe syndactyly  (IAGP)
Toenail dysplasia  (IAGP)
Triphalangeal thumb  (IAGP)
Underdeveloped nasal alae  (IAGP)
Wide mouth  (IAGP)
Wide nasal base  (IAGP)
Wide nasal bridge  (IAGP)
Wide nose  (IAGP)
Widely spaced teeth  (IAGP)
Widow's peak  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1373501   PMID:2145275   PMID:2874839   PMID:7706273   PMID:7945239   PMID:9210392   PMID:9442887   PMID:10221984   PMID:10224039   PMID:10340843   PMID:10440860   PMID:11836511  
PMID:12477932   PMID:12643545   PMID:12670943   PMID:12788495   PMID:14580332   PMID:14597263   PMID:14702039   PMID:15489334   PMID:17081065   PMID:17662945   PMID:17897319   PMID:18029348  
PMID:19056867   PMID:19199708   PMID:19738201   PMID:20038947   PMID:20379614   PMID:20381070   PMID:20889312   PMID:21301993   PMID:21674799   PMID:21873635   PMID:22658674   PMID:22863883  
PMID:22939629   PMID:22982048   PMID:23376485   PMID:23398456   PMID:23533145   PMID:23620142   PMID:23874603   PMID:24711643   PMID:24913193   PMID:25281560   PMID:25416956   PMID:25561175  
PMID:25567906   PMID:25665578   PMID:25713363   PMID:25915598   PMID:25921289   PMID:26186194   PMID:26344197   PMID:26496610   PMID:27609421   PMID:27684187   PMID:27824360   PMID:27880917  
PMID:28514442   PMID:29310826   PMID:29507755   PMID:29568061   PMID:29791485   PMID:29993276   PMID:30720463   PMID:30821427   PMID:31091453   PMID:31257146   PMID:31527615   PMID:31536960  
PMID:31551363   PMID:31655144   PMID:31995728   PMID:32393512   PMID:32780723   PMID:32812023   PMID:32814053   PMID:32873933   PMID:33060197   PMID:33065002   PMID:33144569   PMID:33226137  
PMID:33545068   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34159380   PMID:34349018   PMID:34373451   PMID:34597346   PMID:34709727   PMID:34732716   PMID:35063084   PMID:35235311  
PMID:35256949   PMID:35271311   PMID:35384245   PMID:35509820   PMID:35831314   PMID:35914814   PMID:35918402   PMID:35944360   PMID:36215168   PMID:36300783   PMID:36470425   PMID:36476874  
PMID:36517590   PMID:37071682   PMID:37120454   PMID:37223481   PMID:37827155   PMID:38113892   PMID:38270169   PMID:38334954   PMID:38496616  


Genomics

Comparative Map Data
ATP6V1B2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38820,197,381 - 20,221,696 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl820,197,381 - 20,230,399 (+)EnsemblGRCh38hg38GRCh38
GRCh37820,054,892 - 20,079,207 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36820,098,984 - 20,123,487 (+)NCBINCBI36Build 36hg18NCBI36
Build 34820,098,983 - 20,123,485NCBI
Celera819,017,312 - 19,041,815 (+)NCBICelera
Cytogenetic Map8p21.3NCBI
HuRef818,594,885 - 18,619,391 (+)NCBIHuRef
CHM1_1820,256,468 - 20,280,970 (+)NCBICHM1_1
T2T-CHM13v2.0820,462,474 - 20,486,792 (+)NCBIT2T-CHM13v2.0
Atp6v1b2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39869,541,388 - 69,566,370 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl869,541,298 - 69,566,363 (+)EnsemblGRCm39 Ensembl
GRCm38869,088,736 - 69,113,718 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl869,088,646 - 69,113,711 (+)EnsemblGRCm38mm10GRCm38
MGSCv37871,612,635 - 71,637,617 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36872,017,774 - 72,042,696 (+)NCBIMGSCv36mm8
Celera871,638,588 - 71,664,008 (+)NCBICelera
Cytogenetic Map8B3.3NCBI
cM Map833.88NCBI
Atp6v1b2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81625,384,254 - 25,408,388 (-)NCBIGRCr8
mRatBN7.21620,617,515 - 20,641,651 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1620,617,518 - 20,641,745 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1623,985,269 - 24,010,794 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01627,416,771 - 27,440,870 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01623,350,578 - 23,376,103 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01622,326,537 - 22,350,143 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1622,326,529 - 22,350,155 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01622,221,011 - 22,244,664 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41622,320,425 - 22,344,445 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11622,320,425 - 22,344,443 (-)NCBI
Celera1620,593,372 - 20,617,306 (-)NCBICelera
Cytogenetic Map16p14NCBI
Atp6v1b2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540343,860,728 - 43,886,732 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540343,860,811 - 43,886,398 (+)NCBIChiLan1.0ChiLan1.0
ATP6V1B2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2738,678,698 - 38,703,121 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1814,404,285 - 14,428,721 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0819,422,423 - 19,446,799 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1816,369,937 - 16,394,284 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl816,369,937 - 16,394,284 (+)Ensemblpanpan1.1panPan2
ATP6V1B2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12536,833,246 - 36,858,846 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2536,834,196 - 36,858,819 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2537,427,758 - 37,453,358 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02537,060,323 - 37,085,593 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2537,058,861 - 37,085,557 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12536,996,082 - 37,021,279 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02536,844,258 - 36,869,790 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02537,013,339 - 37,038,613 (-)NCBIUU_Cfam_GSD_1.0
Atp6v1b2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494314,261,909 - 14,285,067 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365554,285,269 - 4,310,858 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365554,285,269 - 4,307,715 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ATP6V1B2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl144,289,339 - 4,318,584 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1144,289,257 - 4,318,587 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2144,718,964 - 4,748,253 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ATP6V1B2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1818,264,210 - 18,289,951 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl818,264,329 - 18,293,444 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605223,963,087 - 23,988,457 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Atp6v1b2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475815,910,132 - 15,935,160 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475815,910,189 - 15,933,975 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ATP6V1B2
111 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001693.4(ATP6V1B2):c.722C>T (p.Ala241Val) single nucleotide variant not provided [RCV000520184] Chr8:20212118 [GRCh38]
Chr8:20069629 [GRCh37]
Chr8:8p21.3		 likely pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000050294] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000050297] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.3-21.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3 copy number gain See cases [RCV000051145] Chr8:12383584..36370018 [GRCh38]
Chr8:12241093..36227536 [GRCh37]
Chr8:12285464..36347088 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3 copy number gain See cases [RCV000051110] Chr8:12728904..41928741 [GRCh38]
Chr8:12586413..41786259 [GRCh37]
Chr8:12630784..41905416 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p21.3(chr8:20015542-20735743)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052166]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052166]|See cases [RCV000052166] Chr8:20015542..20735743 [GRCh38]
Chr8:19873053..20593254 [GRCh37]
Chr8:19917333..20637534 [NCBI36]
Chr8:8p21.3		 uncertain significance
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3 copy number gain See cases [RCV000053633] Chr8:12750796..29445409 [GRCh38]
Chr8:12608305..29302926 [GRCh37]
Chr8:12652676..29358845 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p23.1-21.3(chr8:12787272-20952389)x3 copy number gain See cases [RCV000053634] Chr8:12787272..20952389 [GRCh38]
Chr8:12644781..20809900 [GRCh37]
Chr8:12689152..20854180 [NCBI36]
Chr8:8p23.1-21.3		 pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21		 pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 copy number gain See cases [RCV000053629] Chr8:12609975..37892000 [GRCh38]
Chr8:12467484..37749518 [GRCh37]
Chr8:12511855..37868676 [NCBI36]
Chr8:8p23.1-11.23		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 copy number gain See cases [RCV000053599] Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormal fetal cardiovascular morphology [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
GRCh38/hg38 8p23.1-21.3(chr8:12732530-20436882)x3 copy number gain See cases [RCV000135294] Chr8:12732530..20436882 [GRCh38]
Chr8:12590039..20294393 [GRCh37]
Chr8:12634410..20338673 [NCBI36]
Chr8:8p23.1-21.3		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 copy number gain See cases [RCV000136516] Chr8:12728904..40169194 [GRCh38]
Chr8:12586413..40026713 [GRCh37]
Chr8:12630784..40145870 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3 copy number gain See cases [RCV000135967] Chr8:241530..23198398 [GRCh38]
Chr8:191530..23055911 [GRCh37]
Chr8:181530..23111856 [NCBI36]
Chr8:8p23.3-21.3		 pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3 copy number gain See cases [RCV000136026] Chr8:241605..24656971 [GRCh38]
Chr8:191605..24514484 [GRCh37]
Chr8:181605..24570374 [NCBI36]
Chr8:8p23.3-21.2		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3 copy number gain See cases [RCV000136825] Chr8:12725750..30180521 [GRCh38]
Chr8:12583259..30038037 [GRCh37]
Chr8:12627630..30157579 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3 copy number gain See cases [RCV000138058] Chr8:12698495..35476082 [GRCh38]
Chr8:12556004..35333600 [GRCh37]
Chr8:12600375..35453142 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3 copy number gain See cases [RCV000138244] Chr8:12382844..28625564 [GRCh38]
Chr8:12240353..28483081 [GRCh37]
Chr8:12284724..28539000 [NCBI36]
Chr8:8p23.1-21.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22		 pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 copy number gain See cases [RCV000139770] Chr8:12729023..39235934 [GRCh38]
Chr8:12586532..39093453 [GRCh37]
Chr8:12630903..39212610 [NCBI36]
Chr8:8p23.1-11.22		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 copy number gain See cases [RCV000139549] Chr8:11851113..37216333 [GRCh38]
Chr8:11708622..37073851 [GRCh37]
Chr8:11746031..37193009 [NCBI36]
Chr8:8p23.1-11.23		 pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1 copy number loss See cases [RCV000142516] Chr8:12383584..29033946 [GRCh38]
Chr8:12241093..28891463 [GRCh37]
Chr8:12285464..28947382 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1 copy number loss See cases [RCV000142747] Chr8:18972996..33619264 [GRCh38]
Chr8:18830506..33476782 [GRCh37]
Chr8:18874786..33596324 [NCBI36]
Chr8:8p22-12		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 copy number gain See cases [RCV000143508] Chr8:12633490..40685533 [GRCh38]
Chr8:12490999..40543052 [GRCh37]
Chr8:12535370..40662209 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000148252] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.2-21.1		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000148249] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
NM_001693.4(ATP6V1B2):c.1516C>T (p.Arg506Ter) single nucleotide variant Autosomal dominant deafness - onychodystrophy syndrome [RCV000185602]|Neurodevelopmental delay [RCV002273974]|not provided [RCV003128591] Chr8:20220382 [GRCh38]
Chr8:20077893 [GRCh37]
Chr8:8p21.3		 pathogenic
NM_001693.4(ATP6V1B2):c.1454G>C (p.Arg485Pro) single nucleotide variant Zimmermann-Laband syndrome 1 [RCV000190318]|Zimmermann-Laband syndrome 2 [RCV000185603] Chr8:20220320 [GRCh38]
Chr8:20077831 [GRCh37]
Chr8:8p21.3		 pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 copy number gain See cases [RCV000511325] Chr8:12528482..39593802 [GRCh37]
Chr8:8p23.1-11.22		 pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3 copy number gain See cases [RCV000239945] Chr8:12580132..26774307 [GRCh37]
Chr8:8p23.1-21.2		 pathogenic
Single allele complex 8p inverted duplication/deletion syndrome [RCV002280753] Chr8:158048..43019304 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
NM_001693.4(ATP6V1B2):c.1316_1318del (p.Val439del) deletion not provided [RCV000414094] Chr8:20218201..20218203 [GRCh38]
Chr8:20075712..20075714 [GRCh37]
Chr8:8p21.3		 likely pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 copy number gain See cases [RCV000449225] Chr8:158048..30262760 [GRCh37]
Chr8:8p23.3-12		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p22-21.2(chr8:13091530-24483615) copy number loss See cases [RCV000447428] Chr8:13091530..24483615 [GRCh37]
Chr8:8p22-21.2		 pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
NM_001693.4(ATP6V1B2):c.1120G>C (p.Glu374Gln) single nucleotide variant Zimmermann-Laband syndrome 2 [RCV000496102] Chr8:20216454 [GRCh38]
Chr8:20073965 [GRCh37]
Chr8:8p21.3		 likely pathogenic
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1 copy number loss not provided [RCV000509389] Chr8:16992973..32612724 [GRCh37]
Chr8:8p22-12		 not provided
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p21.3(chr8:19898987-20816188)x3 copy number gain See cases [RCV000510316] Chr8:19898987..20816188 [GRCh37]
Chr8:8p21.3		 uncertain significance
GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3 copy number gain See cases [RCV000510571] Chr8:12528482..33684786 [GRCh37]
Chr8:8p23.1-12		 pathogenic
NM_001693.4(ATP6V1B2):c.925G>A (p.Glu309Lys) single nucleotide variant not provided [RCV000493259] Chr8:20212903 [GRCh38]
Chr8:20070414 [GRCh37]
Chr8:8p21.3		 likely pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3 copy number gain See cases [RCV000510899] Chr8:11945855..34875355 [GRCh37]
Chr8:8p23.1-12		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_001693.4(ATP6V1B2):c.1249G>T (p.Asp417Tyr) single nucleotide variant Inborn genetic diseases [RCV003290122] Chr8:20217307 [GRCh38]
Chr8:20074818 [GRCh37]
Chr8:8p21.3		 uncertain significance
Single allele duplication not provided [RCV000768452] Chr8:12546855..35816855 [GRCh37]
Chr8:8p23.1-12		 likely pathogenic
NM_001693.4(ATP6V1B2):c.1274G>T (p.Cys425Phe) single nucleotide variant Inborn genetic diseases [RCV003251268] Chr8:20218160 [GRCh38]
Chr8:20075671 [GRCh37]
Chr8:8p21.3		 uncertain significance
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329) copy number gain Autism [RCV000626542] Chr8:12580104..25947329 [GRCh37]
Chr8:8p23.1-21.2		 pathogenic
GRCh37/hg19 8p21.3(chr8:19686384-20484203)x3 copy number gain not provided [RCV000683000] Chr8:19686384..20484203 [GRCh37]
Chr8:8p21.3		 uncertain significance
GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3 copy number gain not provided [RCV000683041] Chr8:8770948..27079636 [GRCh37]
Chr8:8p23.1-21.2		 pathogenic
GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3 copy number gain not provided [RCV000683042] Chr8:1825200..24533193 [GRCh37]
Chr8:8p23.3-21.2		 pathogenic
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3 copy number gain not provided [RCV000683043] Chr8:12552775..35935825 [GRCh37]
Chr8:8p23.1-12		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_001693.4(ATP6V1B2):c.124C>T (p.Gln42Ter) single nucleotide variant Zimmermann-Laband syndrome 2 [RCV003314528] Chr8:20197530 [GRCh38]
Chr8:20055041 [GRCh37]
Chr8:8p21.3		 likely pathogenic
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3 copy number gain not provided [RCV000762735] Chr8:12556004..34374150 [GRCh37]
Chr8:8p23.1-12		 likely pathogenic
NM_001693.4(ATP6V1B2):c.803+79G>C single nucleotide variant not provided [RCV001667368] Chr8:20212278 [GRCh38]
Chr8:20069789 [GRCh37]
Chr8:8p21.3		 benign
NM_001693.4(ATP6V1B2):c.292-61A>C single nucleotide variant not provided [RCV001707961] Chr8:20210285 [GRCh38]
Chr8:20067796 [GRCh37]
Chr8:8p21.3		 benign
NM_001693.4(ATP6V1B2):c.464-69A>G single nucleotide variant not provided [RCV001648238] Chr8:20211108 [GRCh38]
Chr8:20068619 [GRCh37]
Chr8:8p21.3		 benign
NM_001693.4(ATP6V1B2):c.40G>T (p.Ala14Ser) single nucleotide variant not provided [RCV000965069] Chr8:20197446 [GRCh38]
Chr8:20054957 [GRCh37]
Chr8:8p21.3		 benign
NM_001693.4(ATP6V1B2):c.1194A>G (p.Leu398=) single nucleotide variant ATP6V1B2-related disorder [RCV003912861]|not provided [RCV000900762] Chr8:20217252 [GRCh38]
Chr8:20074763 [GRCh37]
Chr8:8p21.3		 benign|likely benign
NM_001693.4(ATP6V1B2):c.1161+9C>T single nucleotide variant not provided [RCV000967842] Chr8:20216504 [GRCh38]
Chr8:20074015 [GRCh37]
Chr8:8p21.3		 likely benign
NM_001693.4(ATP6V1B2):c.732C>T (p.Phe244=) single nucleotide variant not provided [RCV000968620] Chr8:20212128 [GRCh38]
Chr8:20069639 [GRCh37]
Chr8:8p21.3		 benign
NM_001693.4(ATP6V1B2):c.318T>C (p.Asp106=) single nucleotide variant not provided [RCV000901267] Chr8:20210372 [GRCh38]
Chr8:20067883 [GRCh37]
Chr8:8p21.3		 likely benign
NM_001693.4(ATP6V1B2):c.192+7C>G single nucleotide variant not provided [RCV000971323] Chr8:20204546 [GRCh38]
Chr8:20062057 [GRCh37]
Chr8:8p21.3		 benign|likely benign
NM_001693.4(ATP6V1B2):c.11G>A (p.Arg4Gln) single nucleotide variant not provided [RCV000950166] Chr8:20197417 [GRCh38]
Chr8:20054928 [GRCh37]
Chr8:8p21.3		 benign|likely benign
NM_001693.4(ATP6V1B2):c.1465A>T (p.Lys489Ter) single nucleotide variant Zimmermann-Laband syndrome with epileptic encephalopathy [RCV000984015] Chr8:20220331 [GRCh38]
Chr8:20077842 [GRCh37]
Chr8:8p21.3		 pathogenic
NM_001693.4(ATP6V1B2):c.1250A>G (p.Asp417Gly) single nucleotide variant not provided [RCV002280444] Chr8:20217308 [GRCh38]
Chr8:20074819 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.1131C>A (p.Ile377=) single nucleotide variant not provided [RCV000965443] Chr8:20216465 [GRCh38]
Chr8:20073976 [GRCh37]
Chr8:8p21.3		 benign|likely benign
NM_001693.4(ATP6V1B2):c.1041G>A (p.Ser347=) single nucleotide variant not provided [RCV000902104] Chr8:20214931 [GRCh38]
Chr8:20072442 [GRCh37]
Chr8:8p21.3		 benign|likely benign
NM_001693.4(ATP6V1B2):c.464-5A>G single nucleotide variant not provided [RCV000963359] Chr8:20211172 [GRCh38]
Chr8:20068683 [GRCh37]
Chr8:8p21.3		 benign
NM_001693.4(ATP6V1B2):c.300A>T (p.Glu100Asp) single nucleotide variant not provided [RCV002280420] Chr8:20210354 [GRCh38]
Chr8:20067865 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.1127A>G (p.Gln376Arg) single nucleotide variant not provided [RCV000799443] Chr8:20216461 [GRCh38]
Chr8:20073972 [GRCh37]
Chr8:8p21.3		 uncertain significance
GRCh37/hg19 8p21.3(chr8:19604406-20174467)x1 copy number loss not provided [RCV000846804] Chr8:19604406..20174467 [GRCh37]
Chr8:8p21.3		 uncertain significance
GRCh37/hg19 8p22-21.3(chr8:18266233-20864195)x1 copy number loss not provided [RCV000847806] Chr8:18266233..20864195 [GRCh37]
Chr8:8p22-21.3		 uncertain significance
GRCh37/hg19 8p21.3(chr8:19731374-20266121)x3 copy number gain not provided [RCV000850024] Chr8:19731374..20266121 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.1121A>G (p.Glu374Gly) single nucleotide variant ATP6V1B2 related neurodevelopmental disorders [RCV001813609]|Zimmermann-Laband syndrome 2 [RCV003314019] Chr8:20216455 [GRCh38]
Chr8:20073966 [GRCh37]
Chr8:8p21.3		 pathogenic
NM_001693.4(ATP6V1B2):c.307T>G (p.Ser103Ala) single nucleotide variant not provided [RCV001171568] Chr8:20210361 [GRCh38]
Chr8:20067872 [GRCh37]
Chr8:8p21.3		 uncertain significance
GRCh37/hg19 8p21.3(chr8:20044441-20267908)x3 copy number gain not provided [RCV001006088] Chr8:20044441..20267908 [GRCh37]
Chr8:8p21.3		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_001693.4(ATP6V1B2):c.1003T>C (p.Tyr335His) single nucleotide variant not provided [RCV003230035] Chr8:20214893 [GRCh38]
Chr8:20072404 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.1145_1148dup (p.His384fs) duplication not provided [RCV004812771] Chr8:20216478..20216479 [GRCh38]
Chr8:20073989..20073990 [GRCh37]		 uncertain significance
NM_001693.4(ATP6V1B2):c.1161+86C>G single nucleotide variant not provided [RCV001689287] Chr8:20216581 [GRCh38]
Chr8:20074092 [GRCh37]
Chr8:8p21.3		 benign
NM_001693.4(ATP6V1B2):c.603+15C>T single nucleotide variant not provided [RCV001617342] Chr8:20211331 [GRCh38]
Chr8:20068842 [GRCh37]
Chr8:8p21.3		 benign
NM_001693.4(ATP6V1B2):c.1162-239T>C single nucleotide variant not provided [RCV001670575] Chr8:20216981 [GRCh38]
Chr8:20074492 [GRCh37]
Chr8:8p21.3		 benign
NM_001693.4(ATP6V1B2):c.705+10_705+11insGTTA insertion not provided [RCV001686256] Chr8:20211762..20211763 [GRCh38]
Chr8:20069273..20069274 [GRCh37]
Chr8:8p21.3		 benign
NM_001693.4(ATP6V1B2):c.330G>A (p.Thr110=) single nucleotide variant not provided [RCV000910369] Chr8:20210384 [GRCh38]
Chr8:20067895 [GRCh37]
Chr8:8p21.3		 likely benign
NM_001693.4(ATP6V1B2):c.1251T>C (p.Asp417=) single nucleotide variant not provided [RCV000910370] Chr8:20217309 [GRCh38]
Chr8:20074820 [GRCh37]
Chr8:8p21.3		 likely benign
NM_001693.4(ATP6V1B2):c.1437T>G (p.Ile479Met) single nucleotide variant Zimmermann-Laband syndrome 2 [RCV001197072] Chr8:20220303 [GRCh38]
Chr8:20077814 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.928-137A>G single nucleotide variant not provided [RCV001540107] Chr8:20214681 [GRCh38]
Chr8:20072192 [GRCh37]
Chr8:8p21.3		 benign
NM_001693.4(ATP6V1B2):c.1516C>G (p.Arg506Gly) single nucleotide variant not provided [RCV002467000] Chr8:20220382 [GRCh38]
Chr8:20077893 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.292-151G>A single nucleotide variant not provided [RCV001675441] Chr8:20210195 [GRCh38]
Chr8:20067706 [GRCh37]
Chr8:8p21.3		 benign
NM_001693.4(ATP6V1B2):c.463+118C>T single nucleotide variant not provided [RCV001595953] Chr8:20210764 [GRCh38]
Chr8:20068275 [GRCh37]
Chr8:8p21.3		 benign
NM_001693.4(ATP6V1B2):c.193-105A>G single nucleotide variant not provided [RCV001661126] Chr8:20209328 [GRCh38]
Chr8:20066839 [GRCh37]
Chr8:8p21.3		 benign
NM_001693.4(ATP6V1B2):c.564A>C (p.Lys188Asn) single nucleotide variant not provided [RCV001172184] Chr8:20211277 [GRCh38]
Chr8:20068788 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.927+50A>G single nucleotide variant not provided [RCV001693940] Chr8:20212955 [GRCh38]
Chr8:20070466 [GRCh37]
Chr8:8p21.3		 benign
NM_001693.4(ATP6V1B2):c.193-67A>C single nucleotide variant not provided [RCV001667493] Chr8:20209366 [GRCh38]
Chr8:20066877 [GRCh37]
Chr8:8p21.3		 benign
NM_001693.4(ATP6V1B2):c.463+6T>G single nucleotide variant Autosomal dominant deafness - onychodystrophy syndrome [RCV001554145]|Zimmermann-Laband syndrome 2 [RCV001554146]|not provided [RCV001673201] Chr8:20210652 [GRCh38]
Chr8:20068163 [GRCh37]
Chr8:8p21.3		 benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_001693.4(ATP6V1B2):c.979A>G (p.Met327Val) single nucleotide variant not provided [RCV001539681] Chr8:20214869 [GRCh38]
Chr8:20072380 [GRCh37]
Chr8:8p21.3		 uncertain significance
GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3 copy number gain not provided [RCV001260030] Chr8:12528482..29886483 [GRCh37]
Chr8:8p23.1-12		 likely pathogenic
NM_001693.4(ATP6V1B2):c.1315G>A (p.Val439Ile) single nucleotide variant Autosomal dominant deafness - onychodystrophy syndrome [RCV001330828] Chr8:20218201 [GRCh38]
Chr8:20075712 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.1018C>T (p.Arg340Ter) single nucleotide variant Autosomal dominant deafness - onychodystrophy syndrome [RCV004795868] Chr8:20214908 [GRCh38]
Chr8:20072419 [GRCh37]
Chr8:8p21.3		 pathogenic|uncertain significance
NM_001693.4(ATP6V1B2):c.1162-71T>G single nucleotide variant not provided [RCV001673789] Chr8:20217149 [GRCh38]
Chr8:20074660 [GRCh37]
Chr8:8p21.3		 benign
NM_001693.4(ATP6V1B2):c.291+93T>G single nucleotide variant not provided [RCV001650207] Chr8:20209624 [GRCh38]
Chr8:20067135 [GRCh37]
Chr8:8p21.3		 benign
NM_001693.4(ATP6V1B2):c.1190C>T (p.Ser397Leu) single nucleotide variant not provided [RCV004784387] Chr8:20217248 [GRCh38]
Chr8:20074759 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.1087C>T (p.His363Tyr) single nucleotide variant not provided [RCV001757238] Chr8:20216421 [GRCh38]
Chr8:20073932 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.472A>C (p.Ile158Leu) single nucleotide variant not provided [RCV001771492] Chr8:20211185 [GRCh38]
Chr8:20068696 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.49C>G (p.Leu17Val) single nucleotide variant not provided [RCV001760879] Chr8:20197455 [GRCh38]
Chr8:20054966 [GRCh37]
Chr8:8p21.3		 uncertain significance
NC_000008.10:g.(?_16850399)_(20112692_?)dup duplication Hereditary spastic paraplegia 53 [RCV003120735] Chr8:16850399..20112692 [GRCh37]
Chr8:8p22-21.3		 uncertain significance
NC_000008.10:g.(?_19263291)_(20112692_?)dup duplication not provided [RCV001885785] Chr8:19263291..20112692 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.883G>A (p.Val295Ile) single nucleotide variant not provided [RCV002224957] Chr8:20212861 [GRCh38]
Chr8:20070372 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.811C>T (p.Arg271Ter) single nucleotide variant not provided [RCV003129349] Chr8:20212789 [GRCh38]
Chr8:20070300 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.623G>A (p.Arg208His) single nucleotide variant Inborn genetic diseases [RCV003255364] Chr8:20211671 [GRCh38]
Chr8:20069182 [GRCh37]
Chr8:8p21.3		 uncertain significance
GRCh37/hg19 8p21.3-21.2(chr8:19779604-26531980)x4 copy number gain not provided [RCV002279745] Chr8:19779604..26531980 [GRCh37]
Chr8:8p21.3-21.2		 pathogenic
Single allele complex See cases [RCV002292428] Chr8:6999114..11935023 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
NM_001693.4(ATP6V1B2):c.202T>C (p.Tyr68His) single nucleotide variant not provided [RCV002274656] Chr8:20209442 [GRCh38]
Chr8:20066953 [GRCh37]
Chr8:8p21.3		 uncertain significance
GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1 copy number loss See cases [RCV002286343] Chr8:158048..30187456 [GRCh37]
Chr8:8p23.3-12		 pathogenic
NM_001693.4(ATP6V1B2):c.1454G>T (p.Arg485Leu) single nucleotide variant not provided [RCV002293186] Chr8:20220320 [GRCh38]
Chr8:20077831 [GRCh37]
Chr8:8p21.3		 likely pathogenic
GRCh37/hg19 8p21.3(chr8:19734916-20137818)x3 copy number gain not provided [RCV002474986] Chr8:19734916..20137818 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.292-1G>A single nucleotide variant not provided [RCV002474054] Chr8:20210345 [GRCh38]
Chr8:20067856 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.1435A>G (p.Ile479Val) single nucleotide variant Inborn genetic diseases [RCV002902779] Chr8:20220301 [GRCh38]
Chr8:20077812 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.1140C>G (p.Asp380Glu) single nucleotide variant Inborn genetic diseases [RCV002773833]|not provided [RCV003143575] Chr8:20216474 [GRCh38]
Chr8:20073985 [GRCh37]
Chr8:8p21.3		 likely benign|uncertain significance
NM_001693.4(ATP6V1B2):c.329C>T (p.Thr110Met) single nucleotide variant Inborn genetic diseases [RCV002728301] Chr8:20210383 [GRCh38]
Chr8:20067894 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.451C>A (p.Leu151Ile) single nucleotide variant Inborn genetic diseases [RCV002972971] Chr8:20210634 [GRCh38]
Chr8:20068145 [GRCh37]
Chr8:8p21.3		 likely benign
NM_001693.4(ATP6V1B2):c.43C>T (p.Pro15Ser) single nucleotide variant Inborn genetic diseases [RCV002763977]|not provided [RCV003143574] Chr8:20197449 [GRCh38]
Chr8:20054960 [GRCh37]
Chr8:8p21.3		 likely benign|uncertain significance
NM_001693.4(ATP6V1B2):c.217C>T (p.His73Tyr) single nucleotide variant Inborn genetic diseases [RCV002916480] Chr8:20209457 [GRCh38]
Chr8:20066968 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.1456A>G (p.Ile486Val) single nucleotide variant Inborn genetic diseases [RCV002744614] Chr8:20220322 [GRCh38]
Chr8:20077833 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.1040C>T (p.Ser347Leu) single nucleotide variant Inborn genetic diseases [RCV002920872] Chr8:20214930 [GRCh38]
Chr8:20072441 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.37G>A (p.Ala13Thr) single nucleotide variant Inborn genetic diseases [RCV002679069]|not provided [RCV003435953] Chr8:20197443 [GRCh38]
Chr8:20054954 [GRCh37]
Chr8:8p21.3		 likely benign|uncertain significance
NC_000008.10:g.(?_17915043)_(20112692_?)dup duplication not provided [RCV003154902] Chr8:17915043..20112692 [GRCh37]
Chr8:8p22-21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.16A>G (p.Met6Val) single nucleotide variant Inborn genetic diseases [RCV003190622] Chr8:20197422 [GRCh38]
Chr8:20054933 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.762G>A (p.Met254Ile) single nucleotide variant not provided [RCV003223280] Chr8:20212158 [GRCh38]
Chr8:20069669 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.656TAG[1] (p.Val220del) microsatellite not provided [RCV003143659] Chr8:20211703..20211705 [GRCh38]
Chr8:20069214..20069216 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.1417G>A (p.Val473Ile) single nucleotide variant Inborn genetic diseases [RCV003184419] Chr8:20220283 [GRCh38]
Chr8:20077794 [GRCh37]
Chr8:8p21.3		 likely benign
NM_001693.4(ATP6V1B2):c.7C>A (p.Leu3Met) single nucleotide variant Inborn genetic diseases [RCV003175464]|not provided [RCV003992750] Chr8:20197413 [GRCh38]
Chr8:20054924 [GRCh37]
Chr8:8p21.3		 likely benign
NM_001693.4(ATP6V1B2):c.1415C>G (p.Thr472Ser) single nucleotide variant Inborn genetic diseases [RCV003201215] Chr8:20220281 [GRCh38]
Chr8:20077792 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.702G>A (p.Met234Ile) single nucleotide variant Inborn genetic diseases [RCV003264855] Chr8:20211750 [GRCh38]
Chr8:20069261 [GRCh37]
Chr8:8p21.3		 uncertain significance
GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1 copy number loss Microcephaly [RCV003327707] Chr8:12721809..30183737 [GRCh38]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1 copy number loss Neurodevelopmental disorder [RCV003327729] Chr8:449893..23854904 [GRCh38]
Chr8:8p23.3-21.2		 pathogenic
NM_001693.4(ATP6V1B2):c.14C>T (p.Ala5Val) single nucleotide variant Inborn genetic diseases [RCV003340444] Chr8:20197420 [GRCh38]
Chr8:20054931 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.43C>G (p.Pro15Ala) single nucleotide variant Inborn genetic diseases [RCV003361161] Chr8:20197449 [GRCh38]
Chr8:20054960 [GRCh37]
Chr8:8p21.3		 likely benign
NM_001693.4(ATP6V1B2):c.1066A>G (p.Met356Val) single nucleotide variant not provided [RCV003332708] Chr8:20214956 [GRCh38]
Chr8:20072467 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.676A>C (p.Asn226His) single nucleotide variant not provided [RCV003332765] Chr8:20211724 [GRCh38]
Chr8:20069235 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.472A>G (p.Ile158Val) single nucleotide variant Autosomal dominant deafness - onychodystrophy syndrome [RCV003458974] Chr8:20211185 [GRCh38]
Chr8:20068696 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.238A>G (p.Thr80Ala) single nucleotide variant Inborn genetic diseases [RCV003371614] Chr8:20209478 [GRCh38]
Chr8:20066989 [GRCh37]
Chr8:8p21.3		 uncertain significance
Single allele duplication not provided [RCV003448693] Chr8:12530550..43483193 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3 copy number gain not provided [RCV003484722] Chr8:11945856..37902453 [GRCh37]
Chr8:8p23.1-11.23		 pathogenic
GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3 copy number gain not provided [RCV003484713] Chr8:2201405..41723095 [GRCh37]
Chr8:8p23.2-11.21		 pathogenic
NM_001693.4(ATP6V1B2):c.35G>A (p.Gly12Glu) single nucleotide variant ATP6V1B2-related disorder [RCV003421061] Chr8:20197441 [GRCh38]
Chr8:20054952 [GRCh37]
Chr8:8p21.3		 uncertain significance
GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3 copy number gain not provided [RCV003484724] Chr8:12560782..38748763 [GRCh37]
Chr8:8p23.1-11.22		 pathogenic
GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3 copy number gain not provided [RCV003484725] Chr8:14240573..43824035 [GRCh37]
Chr8:8p22-11.1		 pathogenic
GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1 copy number loss not provided [RCV003483018] Chr8:12490999..28150620 [GRCh37]
Chr8:8p23.1-21.1		 pathogenic
NM_001693.4(ATP6V1B2):c.1241A>T (p.Asp414Val) single nucleotide variant Zimmermann-Laband syndrome 2 [RCV003484531] Chr8:20217299 [GRCh38]
Chr8:20074810 [GRCh37]
Chr8:8p21.3		 uncertain significance
GRCh37/hg19 8p21.3(chr8:19323985-20513166)x1 copy number loss not provided [RCV003483021] Chr8:19323985..20513166 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.18_26del (p.Met6_Gly8del) deletion not provided [RCV003436783] Chr8:20197421..20197429 [GRCh38]
Chr8:20054932..20054940 [GRCh37]
Chr8:8p21.3		 benign
NM_001693.4(ATP6V1B2):c.961C>T (p.Arg321Ter) single nucleotide variant not specified [RCV003404786] Chr8:20214851 [GRCh38]
Chr8:20072362 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.1416T>G (p.Thr472=) single nucleotide variant not provided [RCV003436785] Chr8:20220282 [GRCh38]
Chr8:20077793 [GRCh37]
Chr8:8p21.3		 likely benign
NM_001693.4(ATP6V1B2):c.1353C>G (p.Tyr451Ter) single nucleotide variant not provided [RCV004777411] Chr8:20218239 [GRCh38]
Chr8:20075750 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.1388T>C (p.Ile463Thr) single nucleotide variant not provided [RCV003436784] Chr8:20218274 [GRCh38]
Chr8:20075785 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.350del (p.Asp117fs) deletion not provided [RCV003442250] Chr8:20210404 [GRCh38]
Chr8:20067915 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.995C>T (p.Ala332Val) single nucleotide variant ATP6V1B2-related disorder [RCV003397583] Chr8:20214885 [GRCh38]
Chr8:20072396 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.1015G>A (p.Gly339Arg) single nucleotide variant ATP6V1B2-related disorder [RCV003406147] Chr8:20214905 [GRCh38]
Chr8:20072416 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.*3del deletion not provided [RCV003436786] Chr8:20220405 [GRCh38]
Chr8:20077916 [GRCh37]
Chr8:8p21.3		 likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3 copy number gain not specified [RCV003986756] Chr8:158048..41600696 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
NM_001693.4(ATP6V1B2):c.124C>A (p.Gln42Lys) single nucleotide variant Inborn genetic diseases [RCV004418757] Chr8:20197530 [GRCh38]
Chr8:20055041 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.19C>T (p.Arg7Trp) single nucleotide variant Inborn genetic diseases [RCV004418759] Chr8:20197425 [GRCh38]
Chr8:20054936 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.229C>T (p.Pro77Ser) single nucleotide variant Inborn genetic diseases [RCV004418760] Chr8:20209469 [GRCh38]
Chr8:20066980 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.442G>A (p.Glu148Lys) single nucleotide variant Inborn genetic diseases [RCV004418762] Chr8:20210625 [GRCh38]
Chr8:20068136 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.34G>A (p.Gly12Arg) single nucleotide variant Inborn genetic diseases [RCV004418761] Chr8:20197440 [GRCh38]
Chr8:20054951 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.14C>A (p.Ala5Glu) single nucleotide variant Inborn genetic diseases [RCV004418758] Chr8:20197420 [GRCh38]
Chr8:20054931 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.653A>G (p.Asp218Gly) single nucleotide variant Inborn genetic diseases [RCV004418763] Chr8:20211701 [GRCh38]
Chr8:20069212 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.657A>G (p.Val219=) single nucleotide variant not provided [RCV003886692] Chr8:20211705 [GRCh38]
Chr8:20069216 [GRCh37]
Chr8:8p21.3		 likely benign
NM_001693.4(ATP6V1B2):c.-1G>C single nucleotide variant ATP6V1B2-related disorder [RCV003959141] Chr8:20197406 [GRCh38]
Chr8:20054917 [GRCh37]
Chr8:8p21.3		 likely benign
NM_001693.4(ATP6V1B2):c.1001T>C (p.Ile334Thr) single nucleotide variant Autosomal dominant deafness - onychodystrophy syndrome [RCV004527531] Chr8:20214891 [GRCh38]
Chr8:20072402 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.705+7A>T single nucleotide variant ATP6V1B2-related disorder [RCV003947118] Chr8:20211760 [GRCh38]
Chr8:20069271 [GRCh37]
Chr8:8p21.3		 likely benign
NM_001693.4(ATP6V1B2):c.366G>A (p.Pro122=) single nucleotide variant ATP6V1B2-related disorder [RCV003899533] Chr8:20210420 [GRCh38]
Chr8:20067931 [GRCh37]
Chr8:8p21.3		 likely benign
NM_001693.4(ATP6V1B2):c.658G>A (p.Val220Ile) single nucleotide variant Inborn genetic diseases [RCV004418764] Chr8:20211706 [GRCh38]
Chr8:20069217 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.1266+4T>G single nucleotide variant not provided [RCV004585669] Chr8:20217328 [GRCh38]
Chr8:20074839 [GRCh37]
Chr8:8p21.3		 uncertain significance
NC_000008.10:g.(?_17915043)_(20112692_?)del deletion not provided [RCV004583317] Chr8:17915043..20112692 [GRCh37]
Chr8:8p22-21.3		 pathogenic
NM_001693.4(ATP6V1B2):c.23G>T (p.Gly8Val) single nucleotide variant Inborn genetic diseases [RCV004680362] Chr8:20197429 [GRCh38]
Chr8:20054940 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.487C>G (p.Arg163Gly) single nucleotide variant Zimmermann-Laband syndrome 2 [RCV004594896] Chr8:20211200 [GRCh38]
Chr8:20068711 [GRCh37]
Chr8:8p21.3		 likely pathogenic
NM_001693.4(ATP6V1B2):c.599A>G (p.Asn200Ser) single nucleotide variant Inborn genetic diseases [RCV004680357] Chr8:20211312 [GRCh38]
Chr8:20068823 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.977A>T (p.Tyr326Phe) single nucleotide variant not provided [RCV004696697] Chr8:20214867 [GRCh38]
Chr8:20072378 [GRCh37]
Chr8:8p21.3		 uncertain significance
NC_000008.10:g.(?_19362692)_(20112692_?)del deletion not provided [RCV004583318] Chr8:19362692..20112692 [GRCh37]
Chr8:8p21.3		 pathogenic
NM_001693.4(ATP6V1B2):c.1443G>A (p.Trp481Ter) single nucleotide variant Zimmermann-Laband syndrome 2 [RCV004789756] Chr8:20220309 [GRCh38]
Chr8:20077820 [GRCh37]
Chr8:8p21.3		 pathogenic
NM_001693.4(ATP6V1B2):c.291G>C (p.Gln97His) single nucleotide variant not provided [RCV004775153] Chr8:20209531 [GRCh38]
Chr8:20067042 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.1192C>G (p.Leu398Val) single nucleotide variant Zimmermann-Laband syndrome 2 [RCV004764393] Chr8:20217250 [GRCh38]
Chr8:20074761 [GRCh37]
Chr8:8p21.3		 pathogenic
NM_001693.4(ATP6V1B2):c.799C>G (p.Pro267Ala) single nucleotide variant not provided [RCV004811473] Chr8:20212195 [GRCh38]
Chr8:20069706 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.1260C>A (p.Asn420Lys) single nucleotide variant not provided [RCV004769504] Chr8:20217318 [GRCh38]
Chr8:20074829 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.1517G>A (p.Arg506Gln) single nucleotide variant not provided [RCV004729246] Chr8:20220383 [GRCh38]
Chr8:20077894 [GRCh37]
Chr8:8p21.3		 pathogenic
NM_001693.4(ATP6V1B2):c.1325A>C (p.Glu442Ala) single nucleotide variant not provided [RCV004769951] Chr8:20218211 [GRCh38]
Chr8:20075722 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001693.4(ATP6V1B2):c.302G>A (p.Gly101Glu) single nucleotide variant not provided [RCV004778731] Chr8:20210356 [GRCh38]
Chr8:20067867 [GRCh37]
Chr8:8p21.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1276
Count of miRNA genes:799
Interacting mature miRNAs:913
Transcripts:ENST00000276390, ENST00000519667, ENST00000520830, ENST00000521442, ENST00000523478, ENST00000523482
Prediction methods: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
1298482BP2_HBlood pressure QTL 2 (human)1.8Blood pressurediastolic8695325632953256Human
407019764GWAS668740_Hunipolar depression QTL GWAS668740 (human)0.0000007unipolar depression82020853820208539Human
596963922GWAS1083441_Hmajor depressive disorder QTL GWAS1083441 (human)0.0000007major depressive disorder82020853820208539Human
406970695GWAS619671_Herythrocyte cadmium measurement QTL GWAS619671 (human)0.000007erythrocyte cadmium measurement82020932820209329Human
407023365GWAS672341_Hmental or behavioural disorder QTL GWAS672341 (human)0.000004mental or behavioural disorder82020853820208539Human
1558703SCL6_HSerum cholesterol level QTL 1 (human)1.2Lipid levelHDL cholesterol81246863538468635Human

Markers in Region
D8S1949  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37820,078,517 - 20,078,624UniSTSGRCh37
Build 36820,122,797 - 20,122,904RGDNCBI36
Celera819,041,125 - 19,041,232RGD
Cytogenetic Map8p21.3UniSTS
HuRef818,618,701 - 18,618,808UniSTS
Whitehead-YAC Contig Map8 UniSTS
RH118507  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37820,078,605 - 20,078,877UniSTSGRCh37
Build 36820,122,885 - 20,123,157RGDNCBI36
Celera819,041,213 - 19,041,485RGD
Cytogenetic Map8p21.3UniSTS
HuRef818,618,789 - 18,619,061UniSTS
TNG Radiation Hybrid Map810933.0UniSTS
RH69321  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37820,078,903 - 20,078,989UniSTSGRCh37
Build 36820,123,183 - 20,123,269RGDNCBI36
Celera819,041,511 - 19,041,597RGD
Cytogenetic Map8p21.3UniSTS
HuRef818,619,087 - 18,619,173UniSTS
GeneMap99-GB4 RH Map883.76UniSTS
NCBI RH Map8257.2UniSTS
ATP6V1B2_8221  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37820,078,082 - 20,078,946UniSTSGRCh37
Build 36820,122,362 - 20,123,226RGDNCBI36
Celera819,040,690 - 19,041,554RGD
HuRef818,618,266 - 18,619,130UniSTS
WI-19010  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8p21.3UniSTS
GeneMap99-GB4 RH Map861.82UniSTS
Whitehead-RH Map889.1UniSTS


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 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_047013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB208806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC025853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI574180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L35249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M60346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X62949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z37165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000276390   ⟹   ENSP00000276390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl820,197,381 - 20,221,696 (+)Ensembl
Ensembl Acc Id: ENST00000519667   ⟹   ENSP00000430682
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl820,197,439 - 20,211,415 (+)Ensembl
Ensembl Acc Id: ENST00000520830   ⟹   ENSP00000428069
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl820,197,424 - 20,211,254 (+)Ensembl
Ensembl Acc Id: ENST00000521442   ⟹   ENSP00000430866
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl820,197,381 - 20,226,819 (+)Ensembl
Ensembl Acc Id: ENST00000523478   ⟹   ENSP00000430154
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl820,197,404 - 20,211,290 (+)Ensembl
Ensembl Acc Id: ENST00000523482
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl820,197,403 - 20,221,689 (+)Ensembl
Ensembl Acc Id: ENST00000718263   ⟹   ENSP00000520703
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl820,197,381 - 20,221,696 (+)Ensembl
Ensembl Acc Id: ENST00000718264   ⟹   ENSP00000520704
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl820,197,381 - 20,221,696 (+)Ensembl
Ensembl Acc Id: ENST00000718265   ⟹   ENSP00000520705
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl820,197,381 - 20,226,852 (+)Ensembl
Ensembl Acc Id: ENST00000718266   ⟹   ENSP00000520706
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl820,197,381 - 20,230,399 (+)Ensembl
Ensembl Acc Id: ENST00000718267   ⟹   ENSP00000520707
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl820,197,382 - 20,227,857 (+)Ensembl
Ensembl Acc Id: ENST00000718268   ⟹   ENSP00000520708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl820,197,395 - 20,227,055 (+)Ensembl
RefSeq Acc Id: NM_001693   ⟹   NP_001684
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38820,197,381 - 20,221,696 (+)NCBI
GRCh37820,054,704 - 20,079,207 (+)ENTREZGENE
Build 36820,098,984 - 20,123,487 (+)NCBI Archive
HuRef818,594,885 - 18,619,391 (+)ENTREZGENE
CHM1_1820,256,468 - 20,280,970 (+)NCBI
T2T-CHM13v2.0820,462,474 - 20,486,792 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001684   ⟸   NM_001693
- UniProtKB: Q15859 (UniProtKB/Swiss-Prot),   Q14544 (UniProtKB/Swiss-Prot),   D3DSQ5 (UniProtKB/Swiss-Prot),   B2R5Z3 (UniProtKB/Swiss-Prot),   Q96IR0 (UniProtKB/Swiss-Prot),   P21281 (UniProtKB/Swiss-Prot),   A0A140VK65 (UniProtKB/TrEMBL),   Q71UA2 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000430682   ⟸   ENST00000519667
Ensembl Acc Id: ENSP00000428069   ⟸   ENST00000520830
Ensembl Acc Id: ENSP00000430866   ⟸   ENST00000521442
Ensembl Acc Id: ENSP00000430154   ⟸   ENST00000523478
Ensembl Acc Id: ENSP00000276390   ⟸   ENST00000276390
Ensembl Acc Id: ENSP00000520704   ⟸   ENST00000718264
Ensembl Acc Id: ENSP00000520707   ⟸   ENST00000718267
Ensembl Acc Id: ENSP00000520703   ⟸   ENST00000718263
Ensembl Acc Id: ENSP00000520706   ⟸   ENST00000718266
Ensembl Acc Id: ENSP00000520705   ⟸   ENST00000718265
Ensembl Acc Id: ENSP00000520708   ⟸   ENST00000718268
Protein Domains
ATP synthase A/B type C-terminal   ATPase F1/V1/A1 complex alpha/beta subunit   ATPase F1/V1/A1 complex alpha/beta subunit N-

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P21281-F1-model_v2 AlphaFold P21281 1-511 view protein structure

Promoters
RGD ID:6806503
Promoter ID:HG_KWN:60846
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000253732
Position:
Human AssemblyChrPosition (strand)Source
Build 36820,098,969 - 20,099,469 (+)MPROMDB
RGD ID:7212751
Promoter ID:EPDNEW_H12121
Type:initiation region
Name:ATP6V1B2_1
Description:ATPase H+ transporting V1 subunit B2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38820,197,381 - 20,197,441EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:854 AgrOrtholog
COSMIC ATP6V1B2 COSMIC
Ensembl Genes ENSG00000147416 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000276390 ENTREZGENE
  ENST00000276390.7 UniProtKB/Swiss-Prot
  ENST00000519667.1 UniProtKB/TrEMBL
  ENST00000520830.1 UniProtKB/TrEMBL
  ENST00000521442.1 UniProtKB/TrEMBL
  ENST00000523478.5 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.12240 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000147416 GTEx
HGNC ID HGNC:854 ENTREZGENE
Human Proteome Map ATP6V1B2 Human Proteome Map
InterPro ATP-synt_VA_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_a/bsu_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_F1/V1/A1_a/bsu_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_F1/V1/A1_a/bsu_nucl-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_V1-cplx_bsu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  V-ATPase_su_B/beta UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:526 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 526 ENTREZGENE
OMIM 606939 OMIM
PANTHER PTHR43389 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  V-TYPE PROTON ATPASE SUBUNIT B, BRAIN ISOFORM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  V-TYPE PROTON ATPASE SUBUNIT B, KIDNEY ISOFORM UniProtKB/TrEMBL
Pfam ATP-synt_ab UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATP-synt_ab_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATP-synt_VA_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25155 PharmGKB
PIRSF V-ATPsynth_beta/V-ATPase_B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ATPASE_ALPHA_BETA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A140VK65 ENTREZGENE, UniProtKB/TrEMBL
  B2R5Z3 ENTREZGENE
  D3DSQ5 ENTREZGENE
  E5RGH6_HUMAN UniProtKB/TrEMBL
  H0YAT8_HUMAN UniProtKB/TrEMBL
  H0YC04_HUMAN UniProtKB/TrEMBL
  H0YC45_HUMAN UniProtKB/TrEMBL
  P21281 ENTREZGENE
  Q14544 ENTREZGENE
  Q15859 ENTREZGENE
  Q71UA2 ENTREZGENE, UniProtKB/TrEMBL
  Q96IR0 ENTREZGENE
  VATB2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B2R5Z3 UniProtKB/Swiss-Prot
  D3DSQ5 UniProtKB/Swiss-Prot
  Q14544 UniProtKB/Swiss-Prot
  Q15859 UniProtKB/Swiss-Prot
  Q96IR0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-16 ATP6V1B2  ATPase H+ transporting V1 subunit B2    ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2  Symbol and/or name change 5135510 APPROVED