TUBA8 (tubulin alpha 8) - Rat Genome Database

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Gene: TUBA8 (tubulin alpha 8) Homo sapiens
Analyze
Symbol: TUBA8
Name: tubulin alpha 8
RGD ID: 1352677
HGNC Page HGNC:12410
Description: Predicted to enable GTP binding activity. Predicted to be a structural constituent of cytoskeleton. Predicted to be involved in microtubule cytoskeleton organization and mitotic cell cycle. Located in microtubule cytoskeleton. Implicated in thrombocytopenia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: alpha-tubulin 8; CDCBM8; MACTHC2; TUBAL2; tubulin alpha 8 trucated form; tubulin alpha chain-like 2; tubulin alpha-8 chain; tubulin, alpha 8; tubulin, alpha-like 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: TUBAP3  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382218,110,809 - 18,131,732 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2218,110,100 - 18,146,683 (+)EnsemblGRCh38hg38GRCh38
GRCh372218,593,575 - 18,614,499 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362216,973,559 - 16,994,498 (+)NCBINCBI36Build 36hg18NCBI36
Build 342216,968,112 - 16,989,052NCBI
Celera222,212,521 - 2,233,563 (+)NCBICelera
Cytogenetic Map22q11.21NCBI
HuRef222,405,998 - 2,426,924 (+)NCBIHuRef
CHM1_12218,593,173 - 18,614,215 (+)NCBICHM1_1
T2T-CHM13v2.02218,782,719 - 18,803,642 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-tribromophenol  (EXP)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
all-trans-retinoic acid  (EXP,ISO)
alpha-Zearalanol  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
Benzo[k]fluoranthene  (ISO)
bisphenol A  (EXP,ISO)
butanal  (EXP)
cadmium dichloride  (ISO)
cantharidin  (ISO)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
cobalt dichloride  (EXP)
cocaine  (EXP)
Cuprizon  (ISO)
decabromodiphenyl ether  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dibenzofurans  (ISO)
diiodine  (ISO)
doxorubicin  (EXP)
ethanol  (ISO)
folic acid  (ISO)
gentamycin  (ISO)
graphite  (ISO)
indometacin  (EXP)
isoprenaline  (ISO)
L-methionine  (ISO)
lead nitrate  (ISO)
lipopolysaccharide  (EXP)
mercury atom  (ISO)
mercury(0)  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
PCB138  (ISO)
pentachlorophenol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
quercetin  (ISO)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
sodium fluoride  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
testosterone  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
triphenyl phosphate  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
acrosomal vesicle  (IEA,ISO)
cytoplasm  (IBA,IEA)
cytoskeleton  (IEA)
membrane  (IEA)
microtubule  (IBA,IEA)
microtubule cytoskeleton  (IDA,IEA)

Molecular Function

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

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
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:7651436   PMID:9885248   PMID:10591208   PMID:10772959   PMID:10840040   PMID:10908577   PMID:11146551   PMID:11953448   PMID:12477932   PMID:12486001   PMID:14702039   PMID:15103018  
PMID:15331610   PMID:15461802   PMID:15489334   PMID:15691386   PMID:15698476   PMID:16148047   PMID:16327313   PMID:16344560   PMID:16380905   PMID:17620599   PMID:17643375   PMID:18320585  
PMID:18976975   PMID:19156129   PMID:19380743   PMID:19786618   PMID:19896110   PMID:19913121   PMID:20466094   PMID:20628086   PMID:21167302   PMID:21872825   PMID:21873635   PMID:22119785  
PMID:22174317   PMID:23246001   PMID:23463506   PMID:23703321   PMID:23826228   PMID:24639526   PMID:25144556   PMID:25798074   PMID:26186194   PMID:26460568   PMID:26582913   PMID:26618866  
PMID:26638075   PMID:26949251   PMID:27010057   PMID:27371349   PMID:27591049   PMID:27609421   PMID:28063004   PMID:28117675   PMID:28514442   PMID:28718761   PMID:29053956   PMID:29715546  
PMID:29845934   PMID:30209976   PMID:30627818   PMID:30809309   PMID:31501420   PMID:31623628   PMID:32296183   PMID:32433965   PMID:32812023   PMID:33536335   PMID:33961781   PMID:34428256  
PMID:35013218   PMID:35126370   PMID:35256949   PMID:35271311   PMID:35777956   PMID:36030824   PMID:36057605   PMID:36215168   PMID:36584595   PMID:36849460  


Genomics

Comparative Map Data
TUBA8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382218,110,809 - 18,131,732 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2218,110,100 - 18,146,683 (+)EnsemblGRCh38hg38GRCh38
GRCh372218,593,575 - 18,614,499 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362216,973,559 - 16,994,498 (+)NCBINCBI36Build 36hg18NCBI36
Build 342216,968,112 - 16,989,052NCBI
Celera222,212,521 - 2,233,563 (+)NCBICelera
Cytogenetic Map22q11.21NCBI
HuRef222,405,998 - 2,426,924 (+)NCBIHuRef
CHM1_12218,593,173 - 18,614,215 (+)NCBICHM1_1
T2T-CHM13v2.02218,782,719 - 18,803,642 (+)NCBIT2T-CHM13v2.0
Tuba8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396121,187,666 - 121,209,304 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6121,187,655 - 121,203,813 (+)EnsemblGRCm39 Ensembl
GRCm386121,210,734 - 121,226,098 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6121,210,696 - 121,226,854 (+)EnsemblGRCm38mm10GRCm38
MGSCv376121,160,788 - 121,176,115 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366121,176,389 - 121,191,716 (+)NCBIMGSCv36mm8
Celera6123,044,550 - 123,060,095 (+)NCBICelera
Cytogenetic Map6F1NCBI
cM Map657.15NCBI
Tuba8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84156,110,562 - 156,129,065 (+)NCBIGRCr8
mRatBN7.24154,440,045 - 154,456,918 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4154,440,074 - 154,456,917 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4160,705,807 - 160,723,049 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04156,489,290 - 156,506,534 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04155,112,778 - 155,130,023 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04153,774,511 - 153,791,223 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4153,774,486 - 153,791,328 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04220,863,728 - 220,880,838 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera4143,280,073 - 143,296,818 (+)NCBICelera
Cytogenetic Map4q42NCBI
Tuba8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554546,129,612 - 6,148,645 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554546,129,821 - 6,148,645 (+)NCBIChiLan1.0ChiLan1.0
TUBA8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22328,427,414 - 28,461,175 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12230,975,349 - 31,009,108 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0221,541,154 - 1,561,852 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12216,969,150 - 17,012,868 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2216,936,405 - 16,989,730 (+)Ensemblpanpan1.1panPan2
TUBA8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12745,706,576 - 45,725,679 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2745,675,472 - 45,725,681 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha27958,092 - 977,176 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02746,073,905 - 46,093,210 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2746,045,486 - 46,094,019 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12746,001,476 - 46,020,589 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02745,975,073 - 45,993,987 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.027313,717 - 332,829 (-)NCBIUU_Cfam_GSD_1.0
Tuba8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945109,855,015 - 109,884,560 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049368071,061,529 - 1,084,228 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049368071,061,542 - 1,079,438 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TUBA8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl570,153,922 - 70,179,970 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1570,154,251 - 70,174,001 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2572,507,682 - 72,527,225 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Tuba8
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247359,211,152 - 9,230,303 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247359,211,458 - 9,229,909 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TUBA8
275 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_018943.3(TUBA8):c.1154C>A (p.Ala385Glu) single nucleotide variant not provided [RCV001507491]|not specified [RCV004037869] Chr22:18130940 [GRCh38]
Chr22:18613707 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.708del (p.Ser237fs) deletion not provided [RCV001581946] Chr22:18126685 [GRCh38]
Chr22:18609452 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.1117C>T (p.Arg373Trp) single nucleotide variant Polymicrogyria with optic nerve hypoplasia [RCV000765607]|not provided [RCV001851473]|not specified [RCV000518585] Chr22:18130903 [GRCh38]
Chr22:18613670 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.4-21_4-8del deletion Polymicrogyria with optic nerve hypoplasia [RCV000005048] Chr22:18121455..18121468 [GRCh38]
Chr22:18604222..18604235 [GRCh37]
Chr22:22q11.21		 pathogenic|uncertain significance
NM_018943.3(TUBA8):c.132C>G (p.Asn44Lys) single nucleotide variant not provided [RCV001857935]|not specified [RCV000517190] Chr22:18121607 [GRCh38]
Chr22:18604374 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x3 copy number gain See cases [RCV000050858] Chr22:16916608..20324240 [GRCh38]
Chr22:17397498..20311763 [GRCh37]
Chr22:15777498..18691763 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x1 copy number loss See cases [RCV000050859] Chr22:16916608..20324240 [GRCh38]
Chr22:17397498..20311763 [GRCh37]
Chr22:15777498..18691763 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-21151128)x3 copy number gain See cases [RCV000050614] Chr22:16916608..21151128 [GRCh38]
Chr22:17397498..21505417 [GRCh37]
Chr22:15777498..19835417 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16538125-20363937)x1 copy number loss See cases [RCV000051270] Chr22:16538125..20363937 [GRCh38]
Chr22:17019015..20718227 [GRCh37]
Chr22:15399015..19048227 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-18718532)x3 copy number gain See cases [RCV000051127] Chr22:16916608..18718532 [GRCh38]
Chr22:17397498..18706045 [GRCh37]
Chr22:15777498..17086045 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16578056-18134332)x3 copy number gain See cases [RCV000051917] Chr22:16578056..18134332 [GRCh38]
Chr22:17058946..18617099 [GRCh37]
Chr22:15438946..16997099 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:11121452-18167952)x3 copy number gain See cases [RCV000053100] Chr22:11121452..18167952 [GRCh38]
Chr22:16230024..18650719 [GRCh37]
Chr22:14610024..17030719 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20343532)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053103]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053103]|See cases [RCV000053103] Chr22:16916608..20343532 [GRCh38]
Chr22:17397498..20402677 [GRCh37]
Chr22:15777498..18782677 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3 copy number gain See cases [RCV000053104] Chr22:16916608..24358936 [GRCh38]
Chr22:17397498..24754904 [GRCh37]
Chr22:15777498..23084904 [NCBI36]
Chr22:22q11.1-11.23		 pathogenic
GRCh38/hg38 22q11.21(chr22:18050488-18955291)x3 copy number gain See cases [RCV000053105] Chr22:18050488..18955291 [GRCh38]
Chr22:18533254..18942804 [GRCh37]
Chr22:16913254..17322804 [NCBI36]
Chr22:22q11.21		 pathogenic
NM_018943.3(TUBA8):c.748G>A (p.Val250Met) single nucleotide variant TUBA8-related disorder [RCV003905204]|not provided [RCV000905957]|not specified [RCV000192620] Chr22:18126726 [GRCh38]
Chr22:18609493 [GRCh37]
Chr22:22q11.21		 benign|likely benign|uncertain significance
NM_018943.3(TUBA8):c.897C>T (p.Asn299=) single nucleotide variant not provided [RCV002055629]|not specified [RCV000147830] Chr22:18126875 [GRCh38]
Chr22:18609642 [GRCh37]
Chr22:22q11.21		 benign|likely benign|conflicting interpretations of pathogenicity
NM_018943.3(TUBA8):c.1057-7C>T single nucleotide variant TUBA8-related disorder [RCV003965048]|not provided [RCV000714140]|not specified [RCV000147824] Chr22:18130836 [GRCh38]
Chr22:18613603 [GRCh37]
Chr22:22q11.21		 benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
NM_018943.3(TUBA8):c.1080G>A (p.Pro360=) single nucleotide variant TUBA8-related disorder [RCV003927445]|not provided [RCV000892802]|not specified [RCV000147825] Chr22:18130866 [GRCh38]
Chr22:18613633 [GRCh37]
Chr22:22q11.21		 benign|likely benign
NM_018943.3(TUBA8):c.250C>T (p.Arg84Cys) single nucleotide variant not provided [RCV000224883]|not specified [RCV000147826] Chr22:18124179 [GRCh38]
Chr22:18606946 [GRCh37]
Chr22:22q11.21		 benign|likely benign|conflicting interpretations of pathogenicity
NM_018943.3(TUBA8):c.324C>T (p.Tyr108=) single nucleotide variant not provided [RCV000885699]|not specified [RCV000147827] Chr22:18124253 [GRCh38]
Chr22:18607020 [GRCh37]
Chr22:22q11.21		 benign|likely benign
NM_018943.3(TUBA8):c.383C>T (p.Ala128Val) single nucleotide variant not provided [RCV000714141]|not specified [RCV000147828] Chr22:18126361 [GRCh38]
Chr22:18609128 [GRCh37]
Chr22:22q11.21		 benign|likely benign
NM_018943.3(TUBA8):c.816C>T (p.Tyr272=) single nucleotide variant not provided [RCV000958170]|not specified [RCV000147829] Chr22:18126794 [GRCh38]
Chr22:18609561 [GRCh37]
Chr22:22q11.21		 benign|likely benign
NM_018943.3(TUBA8):c.958C>T (p.Arg320Trp) single nucleotide variant Polymicrogyria with optic nerve hypoplasia [RCV000147831]|not provided [RCV000419442] Chr22:18126936 [GRCh38]
Chr22:18609703 [GRCh37]
Chr22:22q11.21		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x3 copy number gain See cases [RCV000133785] Chr22:16916608..20354644 [GRCh38]
Chr22:17397498..20708934 [GRCh37]
Chr22:15777498..19038934 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x1 copy number loss See cases [RCV000133786] Chr22:16916608..20354644 [GRCh38]
Chr22:17397498..20708934 [GRCh37]
Chr22:15777498..19038934 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20343532)x3 copy number gain See cases [RCV000133682] Chr22:16916608..20343532 [GRCh38]
Chr22:17397498..20659606 [GRCh37]
Chr22:15777498..18989606 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916743-19597367)x3 copy number gain See cases [RCV000134065] Chr22:16916743..19597367 [GRCh38]
Chr22:17397633..19584890 [GRCh37]
Chr22:15777633..17964890 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18087546-19196905)x3 copy number gain See cases [RCV000136884] Chr22:18087546..19196905 [GRCh38]
Chr22:18570312..19184416 [GRCh37]
Chr22:16950312..17564416 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916743-18718546)x3 copy number gain See cases [RCV000138648] Chr22:16916743..18718546 [GRCh38]
Chr22:17397633..18706059 [GRCh37]
Chr22:15777633..17086059 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916743-18178991)x3 copy number gain See cases [RCV000138423] Chr22:16916743..18178991 [GRCh38]
Chr22:17397633..18661758 [GRCh37]
Chr22:15777633..17041758 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916743-18145439)x3 copy number gain See cases [RCV000139612] Chr22:16916743..18145439 [GRCh38]
Chr22:17397633..18628206 [GRCh37]
Chr22:15777633..17008206 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18127193-18168847)x3 copy number gain See cases [RCV000140769] Chr22:18127193..18168847 [GRCh38]
Chr22:18609960..18651614 [GRCh37]
Chr22:16989960..17031614 [NCBI36]
Chr22:22q11.21		 benign
GRCh38/hg38 22q11.1-11.21(chr22:16916608-18997006)x4 copy number gain See cases [RCV000142442] Chr22:16916608..18997006 [GRCh38]
Chr22:17397498..18984519 [GRCh37]
Chr22:15777498..17364519 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-18179006)x4 copy number gain See cases [RCV000142570] Chr22:16916608..18179006 [GRCh38]
Chr22:17397498..18661773 [GRCh37]
Chr22:15777498..17041773 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22p11.2-q11.1(chr22:16367190-18178957)x4 copy number gain See cases [RCV000140776] Chr22:16367190..18178957 [GRCh38]
Chr22:16054691..18661724 [GRCh37]
Chr22:14434691..17041724 [NCBI36]
Chr22:22p11.2-q11.1		 pathogenic
NM_018943.3(TUBA8):c.40G>T (p.Val14Phe) single nucleotide variant not provided [RCV000175912] Chr22:18121515 [GRCh38]
Chr22:18604282 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.1250A>C (p.Glu417Ala) single nucleotide variant not provided [RCV000178972] Chr22:18131036 [GRCh38]
Chr22:18613803 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.1-11.21(chr22:17012935-21431054)x4 copy number gain See cases [RCV000258792] Chr22:17012935..21431054 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
NM_018943.3(TUBA8):c.1093G>A (p.Gly365Arg) single nucleotide variant not provided [RCV000224339] Chr22:18130879 [GRCh38]
Chr22:18613646 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16054691-18650708)x4 copy number gain See cases [RCV000240512] Chr22:16054691..18650708 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3 copy number gain See cases [RCV000240348] Chr22:16054691..27296513 [GRCh37]
Chr22:22q11.1-12.1		 pathogenic
GRCh37/hg19 22q11.1-11.22(chr22:17264511-23238029)x3 copy number gain See cases [RCV000240483] Chr22:17264511..23238029 [GRCh37]
Chr22:22q11.1-11.22		 pathogenic
GRCh37/hg19 22q11.21(chr22:18411443-18650708)x3 copy number gain See cases [RCV000240484] Chr22:18411443..18650708 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.1-11.21(chr22:16800000-21500000)x4 copy number gain not provided [RCV001270641] Chr22:16800000..21500000 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
NM_018943.3(TUBA8):c.967G>A (p.Val323Met) single nucleotide variant Macrothrombocytopenia, isolated, 2, autosomal dominant [RCV002475957]|Polymicrogyria with optic nerve hypoplasia [RCV000765606]|not provided [RCV000488379]|not specified [RCV000503144] Chr22:18126945 [GRCh38]
Chr22:18609712 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.1334A>T (p.Glu445Val) single nucleotide variant TUBA8-related disorder [RCV003962681]|not provided [RCV000597661] Chr22:18131120 [GRCh38]
Chr22:18613887 [GRCh37]
Chr22:22q11.21		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_018943.3(TUBA8):c.728G>A (p.Arg243His) single nucleotide variant Polymicrogyria with optic nerve hypoplasia [RCV000723349]|not provided [RCV001507490] Chr22:18126706 [GRCh38]
Chr22:18609473 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.466C>T (p.Arg156Cys) single nucleotide variant not provided [RCV000729993] Chr22:18126444 [GRCh38]
Chr22:18609211 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20311858)x3 copy number gain See cases [RCV000446787] Chr22:16888899..20311858 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-18644773)x4 copy number gain See cases [RCV000446925] Chr22:16888899..18644773 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:17450514-18636846)x3 copy number gain Cat eye syndrome [RCV000446162] Chr22:17450514..18636846 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic|uncertain significance
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20000830)x1 copy number loss See cases [RCV000446695] Chr22:16888899..20000830 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18189295-18649167)x3 copy number gain See cases [RCV000447442] Chr22:18189295..18649167 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.227-6T>C single nucleotide variant not provided [RCV003766359]|not specified [RCV000424974] Chr22:18124150 [GRCh38]
Chr22:18606917 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.-7G>C single nucleotide variant TUBA8-related disorder [RCV003942380]|not specified [RCV000428647] Chr22:18110859 [GRCh38]
Chr22:18593625 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.902A>G (p.Gln301Arg) single nucleotide variant not provided [RCV000438996] Chr22:18126880 [GRCh38]
Chr22:18609647 [GRCh37]
Chr22:22q11.21		 conflicting interpretations of pathogenicity|uncertain significance
NM_018943.3(TUBA8):c.468C>T (p.Arg156=) single nucleotide variant not provided [RCV001720189] Chr22:18126446 [GRCh38]
Chr22:18609213 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.546G>A (p.Val182=) single nucleotide variant not specified [RCV000443554] Chr22:18126524 [GRCh38]
Chr22:18609291 [GRCh37]
Chr22:22q11.21		 likely benign
GRCh37/hg19 22q11.21(chr22:18561622-18897741)x3 copy number gain See cases [RCV000448214] Chr22:18561622..18897741 [GRCh37]
Chr22:22q11.21		 likely benign
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20716903)x1 copy number loss See cases [RCV000448331] Chr22:16888899..20716903 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-11.23(chr22:16888899-23723805)x3 copy number gain See cases [RCV000448224] Chr22:16888899..23723805 [GRCh37]
Chr22:22q11.1-11.23		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-18916828)x3 copy number gain See cases [RCV000448365] Chr22:16888899..18916828 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
NM_018943.3(TUBA8):c.249C>T (p.Tyr83=) single nucleotide variant not provided [RCV002056885]|not specified [RCV000501061] Chr22:18124178 [GRCh38]
Chr22:18606945 [GRCh37]
Chr22:22q11.21		 likely benign|uncertain significance
GRCh37/hg19 22q11.1-11.21(chr22:16888900-20026751)x1 copy number loss See cases [RCV000510232] Chr22:16888900..20026751 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20311858)x3 copy number gain See cases [RCV000510690] Chr22:16888899..20311858 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
NM_018943.3(TUBA8):c.251G>A (p.Arg84His) single nucleotide variant TUBA8-related disorder [RCV003902749]|not provided [RCV000953771] Chr22:18124180 [GRCh38]
Chr22:18606947 [GRCh37]
Chr22:22q11.21		 benign|likely benign|uncertain significance
GRCh37/hg19 22q11.1-11.21(chr22:16888899-18648856)x4 copy number gain See cases [RCV000511343] Chr22:16888899..18648856 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888900-18640300) copy number gain See cases [RCV000511748] Chr22:16888900..18640300 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-18916828) copy number gain See cases [RCV000511922] Chr22:16888899..18916828 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-18649190)x4 copy number gain See cases [RCV000511374] Chr22:16888899..18649190 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16114244-18917748)x4 copy number gain See cases [RCV000515599] Chr22:16114244..18917748 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
NM_018943.3(TUBA8):c.191G>A (p.Arg64Gln) single nucleotide variant not specified [RCV004319257] Chr22:18121666 [GRCh38]
Chr22:18604433 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.375+20_375+22del deletion not provided [RCV001704816] Chr22:18124324..18124326 [GRCh38]
Chr22:18607091..18607093 [GRCh37]
Chr22:22q11.21		 benign
NM_018943.3(TUBA8):c.1185C>T (p.Phe395=) single nucleotide variant not provided [RCV002531730]|not specified [RCV000614713] Chr22:18130971 [GRCh38]
Chr22:18613738 [GRCh37]
Chr22:22q11.21		 likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20312661)x3 copy number gain not provided [RCV000684521] Chr22:16888899..20312661 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
NM_018943.3(TUBA8):c.661C>T (p.Arg221Cys) single nucleotide variant Polymicrogyria with optic nerve hypoplasia [RCV000681485]|not provided [RCV002544705] Chr22:18126639 [GRCh38]
Chr22:18609406 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18496437-18649190)x3 copy number gain not provided [RCV000684458] Chr22:18496437..18649190 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.1-11.21(chr22:16888899-18649190)x3 copy number gain not provided [RCV000684501] Chr22:16888899..18649190 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:17055733-20312661)x3 copy number gain not provided [RCV000845704] Chr22:17055733..20312661 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
NM_018943.3(TUBA8):c.227-165G>T single nucleotide variant not provided [RCV001567483] Chr22:18123991 [GRCh38]
Chr22:18606758 [GRCh37]
Chr22:22q11.21		 likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16114244-20737903)x3 copy number gain not provided [RCV000741690] Chr22:16114244..20737903 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_018943.3(TUBA8):c.4-112C>T single nucleotide variant not provided [RCV001571856] Chr22:18121367 [GRCh38]
Chr22:18604134 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.226+81C>T single nucleotide variant not provided [RCV001679273] Chr22:18121782 [GRCh38]
Chr22:18604549 [GRCh37]
Chr22:22q11.21		 benign
NC_000022.11:g.18110385C>T single nucleotide variant not provided [RCV001534794] Chr22:18110385 [GRCh38]
Chr22:18593151 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.376-34T>C single nucleotide variant not provided [RCV001572600] Chr22:18126320 [GRCh38]
Chr22:18609087 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.*108C>T single nucleotide variant not provided [RCV001547971] Chr22:18131244 [GRCh38]
Chr22:18614011 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.818C>T (p.Ala273Val) single nucleotide variant not provided [RCV000997859] Chr22:18126796 [GRCh38]
Chr22:18609563 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.1056+62G>A single nucleotide variant not provided [RCV001575854] Chr22:18127096 [GRCh38]
Chr22:18609863 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.3+256G>A single nucleotide variant not provided [RCV001575929] Chr22:18111124 [GRCh38]
Chr22:18593890 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.735C>T (p.Asp245=) single nucleotide variant not provided [RCV000923621] Chr22:18126713 [GRCh38]
Chr22:18609480 [GRCh37]
Chr22:22q11.21		 likely benign
GRCh37/hg19 22q11.1-11.21(chr22:17289827-20311922) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767815] Chr22:17289827..20311922 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:17072086-20130474) copy number gain not provided [RCV000767814] Chr22:17072086..20130474 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
NM_018943.3(TUBA8):c.1173C>T (p.Leu391=) single nucleotide variant not provided [RCV000983358] Chr22:18130959 [GRCh38]
Chr22:18613726 [GRCh37]
Chr22:22q11.21		 benign|likely benign
GRCh37/hg19 22q11.21(chr22:18609712-21408430) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767590] Chr22:18609712..21408430 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18611223-21408430) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767591] Chr22:18611223..21408430 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_018943.3(TUBA8):c.804G>T (p.Pro268=) single nucleotide variant not provided [RCV000827340] Chr22:18126782 [GRCh38]
Chr22:18609549 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.554A>G (p.Tyr185Cys) single nucleotide variant not provided [RCV000993528] Chr22:18126532 [GRCh38]
Chr22:18609299 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.1056+53G>A single nucleotide variant not provided [RCV000829400] Chr22:18127087 [GRCh38]
Chr22:18609854 [GRCh37]
Chr22:22q11.21		 benign
NM_018943.3(TUBA8):c.376-75G>A single nucleotide variant not provided [RCV000833930] Chr22:18126279 [GRCh38]
Chr22:18609046 [GRCh37]
Chr22:22q11.21		 benign
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20125005)x1 copy number loss not provided [RCV001007156] Chr22:16888899..20125005 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20730144)x1 copy number loss not provided [RCV001007159] Chr22:16888899..20730144 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-18629207)x3 copy number gain not provided [RCV001007157] Chr22:16888899..18629207 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
Single allele duplication Neurodevelopmental disorder [RCV000787407] Chr22:17041669..20247250 [GRCh37]
Chr22:22q11.1-11.21		 likely pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20312661)x3 copy number gain not provided [RCV000846815] Chr22:16888899..20312661 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NC_000022.10:g.(?_17565982)_(18613903_?)del deletion not provided [RCV003107448] Chr22:17565982..18613903 [GRCh37]
Chr22:22q11.1-11.21		 uncertain significance
NM_018943.3(TUBA8):c.375+235A>T single nucleotide variant not provided [RCV001608300] Chr22:18124539 [GRCh38]
Chr22:18607306 [GRCh37]
Chr22:22q11.21		 benign
NM_018943.3(TUBA8):c.*144G>T single nucleotide variant not provided [RCV001561066] Chr22:18131280 [GRCh38]
Chr22:18614047 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.1057-141_1057-128del deletion not provided [RCV001666547] Chr22:18130702..18130715 [GRCh38]
Chr22:18613469..18613482 [GRCh37]
Chr22:22q11.21		 benign
NM_018943.3(TUBA8):c.376-56G>T single nucleotide variant not provided [RCV001692616] Chr22:18126298 [GRCh38]
Chr22:18609065 [GRCh37]
Chr22:22q11.21		 benign
NC_000022.11:g.18110474C>T single nucleotide variant not provided [RCV001564288] Chr22:18110474 [GRCh38]
Chr22:18593240 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.227-249T>C single nucleotide variant not provided [RCV001565621] Chr22:18123907 [GRCh38]
Chr22:18606674 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.427G>T (p.Gly143Trp) single nucleotide variant not provided [RCV001587612] Chr22:18126405 [GRCh38]
Chr22:18609172 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.803C>T (p.Pro268Leu) single nucleotide variant not provided [RCV001590628] Chr22:18126781 [GRCh38]
Chr22:18609548 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.3+48G>A single nucleotide variant not provided [RCV001562891] Chr22:18110916 [GRCh38]
Chr22:18593682 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.894dup (p.Asn299fs) duplication not provided [RCV003825141] Chr22:18126869..18126870 [GRCh38]
Chr22:18609636..18609637 [GRCh37]
Chr22:22q11.21		 uncertain significance
NC_000022.11:g.18110361C>T single nucleotide variant not provided [RCV001563122] Chr22:18110361 [GRCh38]
Chr22:18593127 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.3+313A>C single nucleotide variant not provided [RCV001558495] Chr22:18111181 [GRCh38]
Chr22:18593947 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.1057-228T>C single nucleotide variant not provided [RCV001570631] Chr22:18130615 [GRCh38]
Chr22:18613382 [GRCh37]
Chr22:22q11.21		 likely benign
GRCh37/hg19 22q11.1-11.21(chr22:17570796-19695101)x1 copy number loss not provided [RCV002473774] Chr22:17570796..19695101 [GRCh37]
Chr22:22q11.1-11.21		 uncertain significance
GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3 copy number gain Cat eye syndrome [RCV001263219] Chr22:16888899..26483608 [GRCh37]
Chr22:22q11.1-12.1		 pathogenic
NM_018943.3(TUBA8):c.376-302G>T single nucleotide variant not provided [RCV001659395] Chr22:18126052 [GRCh38]
Chr22:18608819 [GRCh37]
Chr22:22q11.21		 benign
NC_000022.11:g.18110514G>A single nucleotide variant not provided [RCV001654410] Chr22:18110514 [GRCh38]
Chr22:18593280 [GRCh37]
Chr22:22q11.21		 benign
NM_018943.3(TUBA8):c.1065_1069del (p.Asn356fs) deletion Microcephaly [RCV001252703]|not provided [RCV003117683] Chr22:18130850..18130854 [GRCh38]
Chr22:18613617..18613621 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.1-11.21(chr22:16888899-18644773)x4 copy number gain not provided [RCV001007161] Chr22:16888899..18644773 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
NM_018943.3(TUBA8):c.1057-238_1057-237del deletion not provided [RCV001679984] Chr22:18130591..18130592 [GRCh38]
Chr22:18613358..18613359 [GRCh37]
Chr22:22q11.21		 benign
GRCh37/hg19 22q11.1-11.22(chr22:16888899-22290476)x3 copy number gain not provided [RCV001007162] Chr22:16888899..22290476 [GRCh37]
Chr22:22q11.1-11.22		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-18916828)x4 copy number gain not provided [RCV001007158] Chr22:16888899..18916828 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
Single allele deletion DiGeorge syndrome [RCV001003853] Chr22:18475385..23764120 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3 copy number gain not provided [RCV001007163] Chr22:16888899..27657507 [GRCh37]
Chr22:22q11.1-12.1		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-21915509) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV002280738] Chr22:16888899..21915509 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
NM_018943.3(TUBA8):c.5G>A (p.Arg2Gln) single nucleotide variant Polymicrogyria with optic nerve hypoplasia [RCV001336460]|not provided [RCV001871886] Chr22:18121480 [GRCh38]
Chr22:18604247 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.727C>T (p.Arg243Cys) single nucleotide variant Macrothrombocytopenia, isolated, 2, autosomal dominant [RCV002246314]|Polymicrogyria with optic nerve hypoplasia [RCV001336461]|not provided [RCV001871887] Chr22:18126705 [GRCh38]
Chr22:18609472 [GRCh37]
Chr22:22q11.21		 pathogenic|uncertain significance
NM_018943.3(TUBA8):c.1057-237del deletion not provided [RCV001725367] Chr22:18130591 [GRCh38]
Chr22:18613358 [GRCh37]
Chr22:22q11.21		 benign
NM_018943.3(TUBA8):c.3+185A>G single nucleotide variant not provided [RCV001582231] Chr22:18111053 [GRCh38]
Chr22:18593819 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.226+82G>A single nucleotide variant not provided [RCV001589983] Chr22:18121783 [GRCh38]
Chr22:18604550 [GRCh37]
Chr22:22q11.21		 likely benign
NC_000022.10:g.(?_17565982)_(20052185_?)del deletion Immunodeficiency 51 [RCV003122555]|Vasculitis due to ADA2 deficiency [RCV003107327] Chr22:17565982..20052185 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
NM_018943.3(TUBA8):c.4C>T (p.Arg2Trp) single nucleotide variant not provided [RCV001754872] Chr22:18121479 [GRCh38]
Chr22:18604246 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.59G>A (p.Cys20Tyr) single nucleotide variant Macrothrombocytopenia, isolated, 2, autosomal dominant [RCV002248333] Chr22:18121534 [GRCh38]
Chr22:18604301 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_018943.3(TUBA8):c.868G>A (p.Glu290Lys) single nucleotide variant Macrothrombocytopenia, isolated, 2, autosomal dominant [RCV002248335]|TUBA8-related disorder [RCV004757534]|not provided [RCV003774726] Chr22:18126846 [GRCh38]
Chr22:18609613 [GRCh37]
Chr22:22q11.21		 pathogenic|uncertain significance
GRCh37/hg19 22q11.1-11.21(chr22:16850000-18885000)x3 copy number gain See cases [RCV001780075] Chr22:16850000..18885000 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
NM_018943.3(TUBA8):c.1178A>G (p.His393Arg) single nucleotide variant not provided [RCV001874638] Chr22:18130964 [GRCh38]
Chr22:18613731 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.963C>T (p.Gly321=) single nucleotide variant not provided [RCV001864640] Chr22:18126941 [GRCh38]
Chr22:18609708 [GRCh37]
Chr22:22q11.21		 likely benign|uncertain significance
NM_018943.3(TUBA8):c.640C>T (p.Arg214Cys) single nucleotide variant not provided [RCV001928159] Chr22:18126618 [GRCh38]
Chr22:18609385 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.1034_1038del (p.Asp345fs) deletion not provided [RCV002008452] Chr22:18127011..18127015 [GRCh38]
Chr22:18609778..18609782 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18505502-19024659)x3 copy number gain not provided [RCV001829176] Chr22:18505502..19024659 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.3+2T>G single nucleotide variant not provided [RCV002042251] Chr22:18110870 [GRCh38]
Chr22:18593636 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.958C>A (p.Arg320=) single nucleotide variant not provided [RCV001970393] Chr22:18126936 [GRCh38]
Chr22:18609703 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.467G>A (p.Arg156His) single nucleotide variant not provided [RCV001890552] Chr22:18126445 [GRCh38]
Chr22:18609212 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.641G>A (p.Arg214His) single nucleotide variant not provided [RCV001911291] Chr22:18126619 [GRCh38]
Chr22:18609386 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.965A>G (p.Asp322Gly) single nucleotide variant not provided [RCV001871025] Chr22:18126943 [GRCh38]
Chr22:18609710 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.995T>C (p.Ile332Thr) single nucleotide variant not provided [RCV001969855]|not specified [RCV004043190] Chr22:18126973 [GRCh38]
Chr22:18609740 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.202A>G (p.Ile68Val) single nucleotide variant not provided [RCV001968815] Chr22:18121677 [GRCh38]
Chr22:18604444 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.367C>T (p.Arg123Trp) single nucleotide variant not provided [RCV001889575] Chr22:18124296 [GRCh38]
Chr22:18607063 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.1079C>T (p.Pro360Leu) single nucleotide variant not provided [RCV001911721] Chr22:18130865 [GRCh38]
Chr22:18613632 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.108T>A (p.Phe36Leu) single nucleotide variant not provided [RCV001984847] Chr22:18121583 [GRCh38]
Chr22:18604350 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.89T>A (p.Ile30Asn) single nucleotide variant not provided [RCV002022399] Chr22:18121564 [GRCh38]
Chr22:18604331 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.377C>T (p.Thr126Ile) single nucleotide variant not provided [RCV001969306] Chr22:18126355 [GRCh38]
Chr22:18609122 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.841G>T (p.Ala281Ser) single nucleotide variant not provided [RCV001887185] Chr22:18126819 [GRCh38]
Chr22:18609586 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.280A>G (p.Thr94Ala) single nucleotide variant not provided [RCV001997448] Chr22:18124209 [GRCh38]
Chr22:18606976 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.1084G>A (p.Val362Met) single nucleotide variant not provided [RCV001901793] Chr22:18130870 [GRCh38]
Chr22:18613637 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.835G>A (p.Glu279Lys) single nucleotide variant not provided [RCV001885653] Chr22:18126813 [GRCh38]
Chr22:18609580 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.887T>C (p.Phe296Ser) single nucleotide variant not provided [RCV001877765] Chr22:18126865 [GRCh38]
Chr22:18609632 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.916G>A (p.Asp306Asn) single nucleotide variant not provided [RCV001978812] Chr22:18126894 [GRCh38]
Chr22:18609661 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.554A>T (p.Tyr185Phe) single nucleotide variant not provided [RCV001869880] Chr22:18126532 [GRCh38]
Chr22:18609299 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.128T>C (p.Ile43Thr) single nucleotide variant not provided [RCV002016882]|not specified [RCV004046721] Chr22:18121603 [GRCh38]
Chr22:18604370 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.618C>T (p.Asn206=) single nucleotide variant not provided [RCV001954093] Chr22:18126596 [GRCh38]
Chr22:18609363 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.355C>A (p.Leu119Met) single nucleotide variant not provided [RCV002035782] Chr22:18124284 [GRCh38]
Chr22:18607051 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.314G>A (p.Arg105Gln) single nucleotide variant not provided [RCV001978482] Chr22:18124243 [GRCh38]
Chr22:18607010 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.791G>A (p.Arg264His) single nucleotide variant not provided [RCV001870288] Chr22:18126769 [GRCh38]
Chr22:18609536 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.262C>T (p.His88Tyr) single nucleotide variant not provided [RCV002049177] Chr22:18124191 [GRCh38]
Chr22:18606958 [GRCh37]
Chr22:22q11.21		 uncertain significance
NC_000022.10:g.(?_18561143)_(18613903_?)dup duplication Peroxisome biogenesis disorder 7A (Zellweger) [RCV001923096]|not provided [RCV001923097] Chr22:18561143..18613903 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.166A>T (p.Thr56Ser) single nucleotide variant not provided [RCV002051034]|not specified [RCV004038838] Chr22:18121641 [GRCh38]
Chr22:18604408 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.1056+11A>G single nucleotide variant not provided [RCV002031135] Chr22:18127045 [GRCh38]
Chr22:18609812 [GRCh37]
Chr22:22q11.21		 likely benign|uncertain significance
NM_018943.3(TUBA8):c.1038G>A (p.Trp346Ter) single nucleotide variant not provided [RCV002010753] Chr22:18127016 [GRCh38]
Chr22:18609783 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.1205G>A (p.Arg402Gln) single nucleotide variant not provided [RCV001877766]|not specified [RCV004040617] Chr22:18130991 [GRCh38]
Chr22:18613758 [GRCh37]
Chr22:22q11.21		 uncertain significance
NC_000022.10:g.(?_18561143)_(18613903_?)del deletion Peroxisome biogenesis disorder 7A (Zellweger) [RCV002014749] Chr22:18561143..18613903 [GRCh37]
Chr22:22q11.21		 pathogenic|uncertain significance
NM_018943.3(TUBA8):c.1155G>A (p.Ala385=) single nucleotide variant not provided [RCV001957808] Chr22:18130941 [GRCh38]
Chr22:18613708 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.4-10C>A single nucleotide variant not provided [RCV001974444] Chr22:18121469 [GRCh38]
Chr22:18604236 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.279C>G (p.Ile93Met) single nucleotide variant not provided [RCV001975869] Chr22:18124208 [GRCh38]
Chr22:18606975 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.1154C>T (p.Ala385Val) single nucleotide variant not provided [RCV001994192]|not specified [RCV004042448] Chr22:18130940 [GRCh38]
Chr22:18613707 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.881C>G (p.Ser294Cys) single nucleotide variant not provided [RCV002009840] Chr22:18126859 [GRCh38]
Chr22:18609626 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.677A>G (p.Asn226Ser) single nucleotide variant not provided [RCV001952702] Chr22:18126655 [GRCh38]
Chr22:18609422 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.25G>C (p.Val9Leu) single nucleotide variant not provided [RCV001932158] Chr22:18121500 [GRCh38]
Chr22:18604267 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.102C>T (p.Gly34=) single nucleotide variant not provided [RCV001867267] Chr22:18121577 [GRCh38]
Chr22:18604344 [GRCh37]
Chr22:22q11.21		 likely benign|uncertain significance
NM_018943.3(TUBA8):c.920C>T (p.Pro307Leu) single nucleotide variant not provided [RCV001982315] Chr22:18126898 [GRCh38]
Chr22:18609665 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.724C>T (p.Leu242Phe) single nucleotide variant not provided [RCV001998845] Chr22:18126702 [GRCh38]
Chr22:18609469 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.1159G>A (p.Ala387Thr) single nucleotide variant not provided [RCV001980107] Chr22:18130945 [GRCh38]
Chr22:18613712 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.686G>A (p.Arg229His) single nucleotide variant not provided [RCV001958019]|not specified [RCV004043052] Chr22:18126664 [GRCh38]
Chr22:18609431 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.55G>T (p.Ala19Ser) single nucleotide variant not provided [RCV002011096] Chr22:18121530 [GRCh38]
Chr22:18604297 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.685C>T (p.Arg229Cys) single nucleotide variant not provided [RCV001952500] Chr22:18126663 [GRCh38]
Chr22:18609430 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.1118G>A (p.Arg373Gln) single nucleotide variant not provided [RCV001958189] Chr22:18130904 [GRCh38]
Chr22:18613671 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.1141A>T (p.Thr381Ser) single nucleotide variant not provided [RCV001938762]|not specified [RCV004041885] Chr22:18130927 [GRCh38]
Chr22:18613694 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.674C>G (p.Thr225Ser) single nucleotide variant not provided [RCV001960186] Chr22:18126652 [GRCh38]
Chr22:18609419 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.991G>A (p.Ala331Thr) single nucleotide variant not provided [RCV001923413] Chr22:18126969 [GRCh38]
Chr22:18609736 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.235C>T (p.Arg79Trp) single nucleotide variant not provided [RCV001905997] Chr22:18124164 [GRCh38]
Chr22:18606931 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.926A>C (p.His309Pro) single nucleotide variant not provided [RCV002019050] Chr22:18126904 [GRCh38]
Chr22:18609671 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.857T>C (p.Leu286Pro) single nucleotide variant not provided [RCV001938200] Chr22:18126835 [GRCh38]
Chr22:18609602 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.736G>A (p.Gly246Arg) single nucleotide variant not provided [RCV001885511] Chr22:18126714 [GRCh38]
Chr22:18609481 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.56C>T (p.Ala19Val) single nucleotide variant not provided [RCV001952028] Chr22:18121531 [GRCh38]
Chr22:18604298 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.818C>A (p.Ala273Glu) single nucleotide variant not provided [RCV001973081] Chr22:18126796 [GRCh38]
Chr22:18609563 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.1148C>T (p.Ala383Val) single nucleotide variant not provided [RCV001877563] Chr22:18130934 [GRCh38]
Chr22:18613701 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.1302A>C (p.Glu434Asp) single nucleotide variant not provided [RCV001878463] Chr22:18131088 [GRCh38]
Chr22:18613855 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.1308G>A (p.Gly436=) single nucleotide variant not provided [RCV002185884] Chr22:18131094 [GRCh38]
Chr22:18613861 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.849C>T (p.His283=) single nucleotide variant not provided [RCV002165402] Chr22:18126827 [GRCh38]
Chr22:18609594 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.376-4C>T single nucleotide variant not provided [RCV002192904] Chr22:18126350 [GRCh38]
Chr22:18609117 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.282A>G (p.Thr94=) single nucleotide variant not provided [RCV002111976] Chr22:18124211 [GRCh38]
Chr22:18606978 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.921G>A (p.Pro307=) single nucleotide variant not provided [RCV002108016] Chr22:18126899 [GRCh38]
Chr22:18609666 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.162C>T (p.Ser54=) single nucleotide variant not provided [RCV002071784] Chr22:18121637 [GRCh38]
Chr22:18604404 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.99C>T (p.Asp33=) single nucleotide variant not provided [RCV002108457] Chr22:18121574 [GRCh38]
Chr22:18604341 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.954C>G (p.Leu318=) single nucleotide variant not provided [RCV002104826] Chr22:18126932 [GRCh38]
Chr22:18609699 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.990C>T (p.Val330=) single nucleotide variant not provided [RCV002096006] Chr22:18126968 [GRCh38]
Chr22:18609735 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.834C>T (p.Ala278=) single nucleotide variant not provided [RCV002131262] Chr22:18126812 [GRCh38]
Chr22:18609579 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.882C>G (p.Ser294=) single nucleotide variant not provided [RCV002134959] Chr22:18126860 [GRCh38]
Chr22:18609627 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.474C>T (p.Ser158=) single nucleotide variant not provided [RCV002150824] Chr22:18126452 [GRCh38]
Chr22:18609219 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.195C>T (p.Ala65=) single nucleotide variant not provided [RCV002196869] Chr22:18121670 [GRCh38]
Chr22:18604437 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.933G>A (p.Lys311=) single nucleotide variant not provided [RCV002153543] Chr22:18126911 [GRCh38]
Chr22:18609678 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.819G>A (p.Ala273=) single nucleotide variant not provided [RCV002126803] Chr22:18126797 [GRCh38]
Chr22:18609564 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.1317G>A (p.Ser439=) single nucleotide variant not provided [RCV002172354] Chr22:18131103 [GRCh38]
Chr22:18613870 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.1182G>A (p.Lys394=) single nucleotide variant not provided [RCV002184930] Chr22:18130968 [GRCh38]
Chr22:18613735 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.549G>A (p.Glu183=) single nucleotide variant TUBA8-related disorder [RCV003933390]|not provided [RCV002095298] Chr22:18126527 [GRCh38]
Chr22:18609294 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.1011C>A (p.Thr337=) single nucleotide variant not provided [RCV002172301] Chr22:18126989 [GRCh38]
Chr22:18609756 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.3+17C>G single nucleotide variant not provided [RCV002146685] Chr22:18110885 [GRCh38]
Chr22:18593651 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.189C>T (p.Pro63=) single nucleotide variant not provided [RCV002150166] Chr22:18121664 [GRCh38]
Chr22:18604431 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.564C>T (p.Ile188=) single nucleotide variant not provided [RCV002132897] Chr22:18126542 [GRCh38]
Chr22:18609309 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.1089C>G (p.Val363=) single nucleotide variant not provided [RCV002210784] Chr22:18130875 [GRCh38]
Chr22:18613642 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.666T>A (p.Pro222=) single nucleotide variant not provided [RCV002157321] Chr22:18126644 [GRCh38]
Chr22:18609411 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.1197C>T (p.Tyr399=) single nucleotide variant not provided [RCV002137112] Chr22:18130983 [GRCh38]
Chr22:18613750 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.405C>T (p.Phe135=) single nucleotide variant TUBA8-related disorder [RCV004757506]|not provided [RCV002159631] Chr22:18126383 [GRCh38]
Chr22:18609150 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.202A>C (p.Ile68Leu) single nucleotide variant Macrothrombocytopenia, isolated, 2, autosomal dominant [RCV002248334]|not provided [RCV003774725] Chr22:18121677 [GRCh38]
Chr22:18604444 [GRCh37]
Chr22:22q11.21		 pathogenic|uncertain significance
NM_018943.3(TUBA8):c.227-10C>T single nucleotide variant not provided [RCV002158823] Chr22:18124146 [GRCh38]
Chr22:18606913 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.909G>A (p.Val303=) single nucleotide variant not provided [RCV002160338] Chr22:18126887 [GRCh38]
Chr22:18609654 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.975C>G (p.Pro325=) single nucleotide variant not provided [RCV002182701] Chr22:18126953 [GRCh38]
Chr22:18609720 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.4-5del deletion not provided [RCV002161395] Chr22:18121471 [GRCh38]
Chr22:18604238 [GRCh37]
Chr22:22q11.21		 benign
NM_018943.3(TUBA8):c.576C>T (p.His192=) single nucleotide variant not provided [RCV002217544] Chr22:18126554 [GRCh38]
Chr22:18609321 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.1056+17T>C single nucleotide variant not provided [RCV002159157] Chr22:18127051 [GRCh38]
Chr22:18609818 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.786C>T (p.Tyr262=) single nucleotide variant not provided [RCV002199865] Chr22:18126764 [GRCh38]
Chr22:18609531 [GRCh37]
Chr22:22q11.21		 likely benign
GRCh37/hg19 22q11.1-11.21(chr22:16888899-18644241)x4 copy number gain Cat eye syndrome [RCV002221456] Chr22:16888899..18644241 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
NM_018943.3(TUBA8):c.570C>T (p.Thr190=) single nucleotide variant not provided [RCV002181656] Chr22:18126548 [GRCh38]
Chr22:18609315 [GRCh37]
Chr22:22q11.21		 benign
NM_018943.3(TUBA8):c.1095G>A (p.Gly365=) single nucleotide variant not provided [RCV003121899] Chr22:18130881 [GRCh38]
Chr22:18613648 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.817G>A (p.Ala273Thr) single nucleotide variant TUBA8-related disorder [RCV003900950]|not provided [RCV003122034]|not specified [RCV003479499] Chr22:18126795 [GRCh38]
Chr22:18609562 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.901C>G (p.Gln301Glu) single nucleotide variant not provided [RCV002287933] Chr22:18126879 [GRCh38]
Chr22:18609646 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.959G>T (p.Arg320Leu) single nucleotide variant not specified [RCV004326980] Chr22:18126937 [GRCh38]
Chr22:18609704 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.1-11.21(chr22:16888900-18649190)x4 copy number gain not provided [RCV002472492] Chr22:16888900..18649190 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18560247-18916828)x3 copy number gain not provided [RCV002474755] Chr22:18560247..18916828 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.1-11.21(chr22:16888900-18916828)x3 copy number gain not provided [RCV002472499] Chr22:16888900..18916828 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
NM_018943.3(TUBA8):c.785A>G (p.Tyr262Cys) single nucleotide variant not provided [RCV002991871] Chr22:18126763 [GRCh38]
Chr22:18609530 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.1123G>A (p.Val375Ile) single nucleotide variant not provided [RCV002751139] Chr22:18130909 [GRCh38]
Chr22:18613676 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.198C>T (p.Val66=) single nucleotide variant not provided [RCV002838332] Chr22:18121673 [GRCh38]
Chr22:18604440 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.1168C>T (p.Arg390Cys) single nucleotide variant not provided [RCV002750899] Chr22:18130954 [GRCh38]
Chr22:18613721 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.949A>G (p.Met317Val) single nucleotide variant not provided [RCV003777726]|not specified [RCV004111152] Chr22:18126927 [GRCh38]
Chr22:18609694 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.220G>C (p.Val74Leu) single nucleotide variant not provided [RCV002838410] Chr22:18121695 [GRCh38]
Chr22:18604462 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.636C>A (p.Ile212=) single nucleotide variant not provided [RCV002995052] Chr22:18126614 [GRCh38]
Chr22:18609381 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.804G>A (p.Pro268=) single nucleotide variant not provided [RCV002751217] Chr22:18126782 [GRCh38]
Chr22:18609549 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.1251A>G (p.Glu417=) single nucleotide variant not provided [RCV002816206] Chr22:18131037 [GRCh38]
Chr22:18613804 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.227-2del deletion not provided [RCV002756494] Chr22:18124153 [GRCh38]
Chr22:18606920 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.608T>A (p.Met203Lys) single nucleotide variant not provided [RCV002816096] Chr22:18126586 [GRCh38]
Chr22:18609353 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.984G>A (p.Val328=) single nucleotide variant not provided [RCV002816097] Chr22:18126962 [GRCh38]
Chr22:18609729 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.979G>C (p.Asp327His) single nucleotide variant not provided [RCV002730275] Chr22:18126957 [GRCh38]
Chr22:18609724 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.843C>T (p.Ala281=) single nucleotide variant not provided [RCV002617713] Chr22:18126821 [GRCh38]
Chr22:18609588 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.888dup (p.Glu297Ter) duplication not provided [RCV002512461] Chr22:18126863..18126864 [GRCh38]
Chr22:18609630..18609631 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.361C>T (p.Arg121Cys) single nucleotide variant not provided [RCV002599910]|not specified [RCV004069010] Chr22:18124290 [GRCh38]
Chr22:18607057 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.712A>G (p.Ile238Val) single nucleotide variant not provided [RCV002947904] Chr22:18126690 [GRCh38]
Chr22:18609457 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.1090C>T (p.Pro364Ser) single nucleotide variant not provided [RCV002616567] Chr22:18130876 [GRCh38]
Chr22:18613643 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.1169G>A (p.Arg390His) single nucleotide variant not provided [RCV003015481] Chr22:18130955 [GRCh38]
Chr22:18613722 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.1166C>T (p.Ala389Val) single nucleotide variant not provided [RCV002755125] Chr22:18130952 [GRCh38]
Chr22:18613719 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.1202A>G (p.Lys401Arg) single nucleotide variant not provided [RCV002755584] Chr22:18130988 [GRCh38]
Chr22:18613755 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.395T>C (p.Leu132Pro) single nucleotide variant not provided [RCV002706463] Chr22:18126373 [GRCh38]
Chr22:18609140 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.417_418del (p.His139fs) microsatellite not provided [RCV002623251] Chr22:18126393..18126394 [GRCh38]
Chr22:18609160..18609161 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.216T>C (p.Pro72=) single nucleotide variant not provided [RCV002781441] Chr22:18121691 [GRCh38]
Chr22:18604458 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.510C>T (p.Ala170=) single nucleotide variant not provided [RCV002998990] Chr22:18126488 [GRCh38]
Chr22:18609255 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.466C>A (p.Arg156Ser) single nucleotide variant not specified [RCV004137909] Chr22:18126444 [GRCh38]
Chr22:18609211 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.938T>C (p.Met313Thr) single nucleotide variant not provided [RCV002979478] Chr22:18126916 [GRCh38]
Chr22:18609683 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.64G>A (p.Glu22Lys) single nucleotide variant not provided [RCV003000132] Chr22:18121539 [GRCh38]
Chr22:18604306 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.1137C>T (p.Ser379=) single nucleotide variant not provided [RCV002909556] Chr22:18130923 [GRCh38]
Chr22:18613690 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.1081A>G (p.Thr361Ala) single nucleotide variant not provided [RCV002735071] Chr22:18130867 [GRCh38]
Chr22:18613634 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.1012A>G (p.Lys338Glu) single nucleotide variant not provided [RCV003005812] Chr22:18126990 [GRCh38]
Chr22:18609757 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.199A>T (p.Met67Leu) single nucleotide variant not provided [RCV002575428] Chr22:18121674 [GRCh38]
Chr22:18604441 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.190del (p.Arg64fs) deletion not provided [RCV002666521] Chr22:18121662 [GRCh38]
Chr22:18604429 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.685C>G (p.Arg229Gly) single nucleotide variant not provided [RCV003043190] Chr22:18126663 [GRCh38]
Chr22:18609430 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.376-16G>A single nucleotide variant not provided [RCV002830137] Chr22:18126338 [GRCh38]
Chr22:18609105 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.1338G>T (p.Gly446=) single nucleotide variant not provided [RCV002791503] Chr22:18131124 [GRCh38]
Chr22:18613891 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.70T>C (p.Phe24Leu) single nucleotide variant not provided [RCV003008297] Chr22:18121545 [GRCh38]
Chr22:18604312 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.637T>G (p.Cys213Gly) single nucleotide variant not specified [RCV004080635] Chr22:18126615 [GRCh38]
Chr22:18609382 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.4-10C>T single nucleotide variant not provided [RCV003082294] Chr22:18121469 [GRCh38]
Chr22:18604236 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.790C>T (p.Arg264Cys) single nucleotide variant not provided [RCV002699989] Chr22:18126768 [GRCh38]
Chr22:18609535 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.67C>G (p.Leu23Val) single nucleotide variant not provided [RCV003006303] Chr22:18121542 [GRCh38]
Chr22:18604309 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.264T>C (p.His88=) single nucleotide variant not provided [RCV002791210] Chr22:18124193 [GRCh38]
Chr22:18606960 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.107T>C (p.Phe36Ser) single nucleotide variant not provided [RCV002711222] Chr22:18121582 [GRCh38]
Chr22:18604349 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.636C>T (p.Ile212=) single nucleotide variant not provided [RCV002801289] Chr22:18126614 [GRCh38]
Chr22:18609381 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.850G>A (p.Glu284Lys) single nucleotide variant not provided [RCV003084399] Chr22:18126828 [GRCh38]
Chr22:18609595 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.629A>G (p.Tyr210Cys) single nucleotide variant not provided [RCV003042703] Chr22:18126607 [GRCh38]
Chr22:18609374 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.-2_3+5del deletion not provided [RCV002594511] Chr22:18110862..18110871 [GRCh38]
Chr22:18593628..18593637 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.108T>C (p.Phe36=) single nucleotide variant not provided [RCV002631070] Chr22:18121583 [GRCh38]
Chr22:18604350 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.449C>T (p.Thr150Ile) single nucleotide variant not specified [RCV004124248] Chr22:18126427 [GRCh38]
Chr22:18609194 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.886_900del (p.Phe296_Ser300del) deletion not provided [RCV002578602] Chr22:18126862..18126876 [GRCh38]
Chr22:18609629..18609643 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.573C>G (p.Thr191=) single nucleotide variant not provided [RCV002597516] Chr22:18126551 [GRCh38]
Chr22:18609318 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.926A>G (p.His309Arg) single nucleotide variant not provided [RCV002716165] Chr22:18126904 [GRCh38]
Chr22:18609671 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.347A>T (p.Asp116Val) single nucleotide variant not provided [RCV002895806] Chr22:18124276 [GRCh38]
Chr22:18607043 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.1316C>T (p.Ser439Leu) single nucleotide variant not provided [RCV002578689] Chr22:18131102 [GRCh38]
Chr22:18613869 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.227-10C>G single nucleotide variant not provided [RCV002791732] Chr22:18124146 [GRCh38]
Chr22:18606913 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.877A>C (p.Ser293Arg) single nucleotide variant not provided [RCV002832944] Chr22:18126855 [GRCh38]
Chr22:18609622 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.84C>T (p.His28=) single nucleotide variant not provided [RCV002599855] Chr22:18121559 [GRCh38]
Chr22:18604326 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.1020C>T (p.Thr340=) single nucleotide variant not provided [RCV002792128] Chr22:18126998 [GRCh38]
Chr22:18609765 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.967G>C (p.Val323Leu) single nucleotide variant not provided [RCV003026554] Chr22:18126945 [GRCh38]
Chr22:18609712 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.3+15G>T single nucleotide variant not provided [RCV002899292] Chr22:18110883 [GRCh38]
Chr22:18593649 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.915C>T (p.Cys305=) single nucleotide variant not provided [RCV002583281] Chr22:18126893 [GRCh38]
Chr22:18609660 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.959G>A (p.Arg320Gln) single nucleotide variant not provided [RCV002814295]|not specified [RCV004064851] Chr22:18126937 [GRCh38]
Chr22:18609704 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.321C>T (p.His107=) single nucleotide variant not provided [RCV002582630] Chr22:18124250 [GRCh38]
Chr22:18607017 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.196G>A (p.Val66Ile) single nucleotide variant not provided [RCV003051225] Chr22:18121671 [GRCh38]
Chr22:18604438 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.1083C>T (p.Thr361=) single nucleotide variant not provided [RCV002635045] Chr22:18130869 [GRCh38]
Chr22:18613636 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.132C>T (p.Asn44=) single nucleotide variant not provided [RCV002607343] Chr22:18121607 [GRCh38]
Chr22:18604374 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.648C>A (p.Asn216Lys) single nucleotide variant not provided [RCV002603640] Chr22:18126626 [GRCh38]
Chr22:18609393 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.252C>T (p.Arg84=) single nucleotide variant not provided [RCV002609462] Chr22:18124181 [GRCh38]
Chr22:18606948 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.966C>T (p.Asp322=) single nucleotide variant not provided [RCV002582844] Chr22:18126944 [GRCh38]
Chr22:18609711 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.1025A>T (p.Gln342Leu) single nucleotide variant not provided [RCV002815102] Chr22:18127003 [GRCh38]
Chr22:18609770 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.1340A>G (p.Glu447Gly) single nucleotide variant not provided [RCV002610669] Chr22:18131126 [GRCh38]
Chr22:18613893 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.709T>C (p.Ser237Pro) single nucleotide variant not specified [RCV004283186] Chr22:18126687 [GRCh38]
Chr22:18609454 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.1-11.21(chr22:16804110-18162024) copy number gain Anomalous pulmonary venous return [RCV003223583] Chr22:16804110..18162024 [GRCh38]
Chr22:22q11.1-11.21		 pathogenic
NM_018943.3(TUBA8):c.1204C>T (p.Arg402Trp) single nucleotide variant not provided [RCV003561222]|not specified [RCV004258908] Chr22:18130990 [GRCh38]
Chr22:18613757 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.1122C>T (p.Ala374=) single nucleotide variant not provided [RCV003712587] Chr22:18130908 [GRCh38]
Chr22:18613675 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.267A>G (p.Pro89=) single nucleotide variant not provided [RCV003571149] Chr22:18124196 [GRCh38]
Chr22:18606963 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.1-11.21(chr22:17832142-20945625)x1 copy number loss not provided [RCV003483389] Chr22:17832142..20945625 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18253057-18649190)x3 copy number gain not provided [RCV003485233] Chr22:18253057..18649190 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18291253-18644791)x3 copy number gain not provided [RCV003485234] Chr22:18291253..18644791 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.1225G>A (p.Val409Met) single nucleotide variant not provided [RCV003828737] Chr22:18131011 [GRCh38]
Chr22:18613778 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.621del (p.Ala208fs) deletion not provided [RCV003693832] Chr22:18126598 [GRCh38]
Chr22:18609365 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.867del (p.Glu290fs) deletion not provided [RCV003575251] Chr22:18126844 [GRCh38]
Chr22:18609611 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.484G>A (p.Gly162Ser) single nucleotide variant not provided [RCV003828213] Chr22:18126462 [GRCh38]
Chr22:18609229 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.543G>C (p.Val181=) single nucleotide variant not provided [RCV003830327] Chr22:18126521 [GRCh38]
Chr22:18609288 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.916G>T (p.Asp306Tyr) single nucleotide variant not provided [RCV003577355] Chr22:18126894 [GRCh38]
Chr22:18609661 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.326C>T (p.Thr109Met) single nucleotide variant not provided [RCV003827991] Chr22:18124255 [GRCh38]
Chr22:18607022 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.1056+18A>G single nucleotide variant not provided [RCV003826507] Chr22:18127052 [GRCh38]
Chr22:18609819 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.1186G>A (p.Asp396Asn) single nucleotide variant not provided [RCV003827070] Chr22:18130972 [GRCh38]
Chr22:18613739 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.840A>G (p.Lys280=) single nucleotide variant not provided [RCV003665936] Chr22:18126818 [GRCh38]
Chr22:18609585 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.368G>A (p.Arg123Gln) single nucleotide variant not provided [RCV003852245] Chr22:18124297 [GRCh38]
Chr22:18607064 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.1167C>A (p.Ala389=) single nucleotide variant not provided [RCV003664768] Chr22:18130953 [GRCh38]
Chr22:18613720 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.1092C>T (p.Pro364=) single nucleotide variant not provided [RCV003724615] Chr22:18130878 [GRCh38]
Chr22:18613645 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.1295A>G (p.Tyr432Cys) single nucleotide variant not provided [RCV003702045] Chr22:18131081 [GRCh38]
Chr22:18613848 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.1143C>T (p.Thr381=) single nucleotide variant not provided [RCV003856047] Chr22:18130929 [GRCh38]
Chr22:18613696 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.1198G>A (p.Ala400Thr) single nucleotide variant not provided [RCV003849969]|not specified [RCV004366972] Chr22:18130984 [GRCh38]
Chr22:18613751 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.362G>A (p.Arg121His) single nucleotide variant not provided [RCV003559636] Chr22:18124291 [GRCh38]
Chr22:18607058 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.175G>A (p.Gly59Arg) single nucleotide variant not provided [RCV003664178] Chr22:18121650 [GRCh38]
Chr22:18604417 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.232G>T (p.Val78Phe) single nucleotide variant not provided [RCV003856498] Chr22:18124161 [GRCh38]
Chr22:18606928 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.4-15T>C single nucleotide variant not provided [RCV003667738] Chr22:18121464 [GRCh38]
Chr22:18604231 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.565C>T (p.Leu189=) single nucleotide variant not provided [RCV003667866] Chr22:18126543 [GRCh38]
Chr22:18609310 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.615C>A (p.Asp205Glu) single nucleotide variant not provided [RCV003659611] Chr22:18126593 [GRCh38]
Chr22:18609360 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.1145C>T (p.Thr382Met) single nucleotide variant not provided [RCV003559029] Chr22:18130931 [GRCh38]
Chr22:18613698 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.432C>T (p.Gly144=) single nucleotide variant not provided [RCV003667435] Chr22:18126410 [GRCh38]
Chr22:18609177 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.578C>A (p.Thr193Asn) single nucleotide variant not provided [RCV003854764] Chr22:18126556 [GRCh38]
Chr22:18609323 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.1224T>C (p.Tyr408=) single nucleotide variant not provided [RCV003669093] Chr22:18131010 [GRCh38]
Chr22:18613777 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.158T>C (p.Phe53Ser) single nucleotide variant not provided [RCV003680049] Chr22:18121633 [GRCh38]
Chr22:18604400 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.4-19T>G single nucleotide variant not provided [RCV003568869] Chr22:18121460 [GRCh38]
Chr22:18604227 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.163G>A (p.Glu55Lys) single nucleotide variant not provided [RCV003866594] Chr22:18121638 [GRCh38]
Chr22:18604405 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.827T>C (p.Ile276Thr) single nucleotide variant not provided [RCV003819519] Chr22:18126805 [GRCh38]
Chr22:18609572 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.597T>C (p.Asp199=) single nucleotide variant not provided [RCV003844196] Chr22:18126575 [GRCh38]
Chr22:18609342 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.441C>T (p.Ser147=) single nucleotide variant TUBA8-related disorder [RCV003948945]|not provided [RCV003707637] Chr22:18126419 [GRCh38]
Chr22:18609186 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.226+17T>C single nucleotide variant not provided [RCV003853070] Chr22:18121718 [GRCh38]
Chr22:18604485 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.512T>G (p.Ile171Ser) single nucleotide variant Duane retraction syndrome [RCV003984293] Chr22:18126490 [GRCh38]
Chr22:18609257 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.190C>T (p.Arg64Trp) single nucleotide variant TUBA8-related disorder [RCV004757606]|not provided [RCV003719996] Chr22:18121665 [GRCh38]
Chr22:18604432 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.323A>G (p.Tyr108Cys) single nucleotide variant not provided [RCV003869800] Chr22:18124252 [GRCh38]
Chr22:18607019 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.969G>C (p.Val323=) single nucleotide variant not provided [RCV003712260] Chr22:18126947 [GRCh38]
Chr22:18609714 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.1279G>T (p.Ala427Ser) single nucleotide variant not provided [RCV003720569] Chr22:18131065 [GRCh38]
Chr22:18613832 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.688C>T (p.Leu230Phe) single nucleotide variant not provided [RCV003568492] Chr22:18126666 [GRCh38]
Chr22:18609433 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.91C>T (p.Gln31Ter) single nucleotide variant not provided [RCV003733361] Chr22:18121566 [GRCh38]
Chr22:18604333 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.375+12_375+26del deletion not provided [RCV003733362] Chr22:18124314..18124328 [GRCh38]
Chr22:18607081..18607095 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.246C>A (p.Thr82=) single nucleotide variant not provided [RCV003859440] Chr22:18124175 [GRCh38]
Chr22:18606942 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.633C>T (p.Asp211=) single nucleotide variant not provided [RCV003542923] Chr22:18126611 [GRCh38]
Chr22:18609378 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.669C>G (p.Thr223=) single nucleotide variant not provided [RCV003727357] Chr22:18126647 [GRCh38]
Chr22:18609414 [GRCh37]
Chr22:22q11.21		 likely benign
NM_018943.3(TUBA8):c.1174G>A (p.Asp392Asn) single nucleotide variant not provided [RCV003842782] Chr22:18130960 [GRCh38]
Chr22:18613727 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.1-11.21(chr22:16888900-20312661)x3 copy number gain not provided [RCV004442760] Chr22:16888900..20312661 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
NM_018943.3(TUBA8):c.309T>C (p.Tyr103=) single nucleotide variant TUBA8-related disorder [RCV003949232] Chr22:18124238 [GRCh38]
Chr22:18607005 [GRCh37]
Chr22:22q11.21		 likely benign
GRCh37/hg19 22q11.1-11.21(chr22:16849364-20311389)x3 copy number gain not provided [RCV004577503] Chr22:16849364..20311389 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
NM_018943.3(TUBA8):c.1213G>A (p.Val405Met) single nucleotide variant not specified [RCV004481599] Chr22:18130999 [GRCh38]
Chr22:18613766 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.1217A>C (p.His406Pro) single nucleotide variant not specified [RCV004481600] Chr22:18131003 [GRCh38]
Chr22:18613770 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.286A>G (p.Lys96Glu) single nucleotide variant not specified [RCV004481601] Chr22:18124215 [GRCh38]
Chr22:18606982 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.346G>T (p.Asp116Tyr) single nucleotide variant not specified [RCV004481602] Chr22:18124275 [GRCh38]
Chr22:18607042 [GRCh37]
Chr22:22q11.21		 uncertain significance
NC_000022.10:g.(?_17565982)_(18613903_?)dup duplication not provided [RCV004579240] Chr22:17565982..18613903 [GRCh37]
Chr22:22q11.1-11.21		 uncertain significance
NM_018943.3(TUBA8):c.1309A>G (p.Thr437Ala) single nucleotide variant not specified [RCV004687865] Chr22:18131095 [GRCh38]
Chr22:18613862 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.734A>T (p.Asp245Val) single nucleotide variant not specified [RCV004687864] Chr22:18126712 [GRCh38]
Chr22:18609479 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_018943.3(TUBA8):c.1239G>T (p.Met413Ile) single nucleotide variant not provided [RCV004769673] Chr22:18131025 [GRCh38]
Chr22:18613792 [GRCh37]
Chr22:22q11.21		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1441
Count of miRNA genes:664
Interacting mature miRNAs:766
Transcripts:ENST00000316027, ENST00000330423, ENST00000416740, ENST00000426208, ENST00000608634
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
406900640GWAS549616_Hatrial fibrillation QTL GWAS549616 (human)9e-14atrial fibrillation221811473518114736Human
1581529BP71_HBlood pressure QTL 71 (human)20.001Blood pressurepulse pressure221109496637094966Human
407182215GWAS831191_Hatrial fibrillation QTL GWAS831191 (human)1e-08atrial fibrillation221811465118114652Human
2289428BW313_HBody weight QTL 313 (human)2.090.0015Body weightBMI221134428437344284Human
407286384GWAS935360_Hatrial fibrillation QTL GWAS935360 (human)4e-11atrial fibrillation221811473518114736Human
407180258GWAS829234_Hatrial fibrillation QTL GWAS829234 (human)2e-11atrial fibrillation221811781618117817Human
407301068GWAS950044_Hatrial fibrillation QTL GWAS950044 (human)2e-12atrial fibrillation221811473518114736Human
407133321GWAS782297_Ht-tau measurement QTL GWAS782297 (human)0.000007t-tau measurement221812487118124872Human
407201147GWAS850123_Hmean platelet volume QTL GWAS850123 (human)7e-09mean platelet volumemean platelet volume (CMO:0001348)221812693618126937Human

Markers in Region
RH48663  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372218,613,677 - 18,613,804UniSTSGRCh37
Build 362216,993,677 - 16,993,804RGDNCBI36
Celera222,232,742 - 2,232,869RGD
Cytogenetic Map22q11.1UniSTS
HuRef222,426,103 - 2,426,230UniSTS
GeneMap99-GB4 RH Map2216.86UniSTS
D22S981E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372218,609,311 - 18,609,452UniSTSGRCh37
GRCh371202,825,026 - 202,825,153UniSTSGRCh37
Build 361201,091,649 - 201,091,776RGDNCBI36
Celera1175,954,262 - 175,954,389RGD
Celera222,228,376 - 2,228,517UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map1q32.1UniSTS
HuRef1173,990,633 - 173,990,760UniSTS
HuRef222,421,737 - 2,421,878UniSTS
TUBA8__5161  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372218,613,837 - 18,614,536UniSTSGRCh37
Build 362216,993,837 - 16,994,536RGDNCBI36
Celera222,232,902 - 2,233,601RGD
HuRef222,426,263 - 2,426,962UniSTS
D22S1608  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372218,601,591 - 18,601,856UniSTSGRCh37
Build 362216,981,591 - 16,981,856RGDNCBI36
Celera222,220,656 - 2,220,921RGD
HuRef222,414,140 - 2,414,405UniSTS


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
1189 2371 2735 2182 4763 1692 2251 2 598 1825 440 2088 6980 6239 51 3699 1 794 1701 1544 172 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001193414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC016027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ245922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA059342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC735546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000316027   ⟹   ENSP00000318575
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,110,687 - 18,131,154 (+)Ensembl
Ensembl Acc Id: ENST00000330423   ⟹   ENSP00000333326
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,110,809 - 18,131,732 (+)Ensembl
Ensembl Acc Id: ENST00000416740   ⟹   ENSP00000412646
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,113,795 - 18,131,720 (+)Ensembl
Ensembl Acc Id: ENST00000426208   ⟹   ENSP00000407624
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,110,331 - 18,124,268 (+)Ensembl
Ensembl Acc Id: ENST00000608634   ⟹   ENSP00000477306
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,126,707 - 18,146,554 (+)Ensembl
Ensembl Acc Id: ENST00000679481
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,121,107 - 18,131,154 (+)Ensembl
Ensembl Acc Id: ENST00000679963   ⟹   ENSP00000505896
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,110,100 - 18,146,683 (+)Ensembl
Ensembl Acc Id: ENST00000680175   ⟹   ENSP00000505461
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,110,305 - 18,141,272 (+)Ensembl
RefSeq Acc Id: NM_001193414   ⟹   NP_001180343
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,110,809 - 18,131,732 (+)NCBI
GRCh372218,593,453 - 18,614,498 (+)ENTREZGENE
HuRef222,405,998 - 2,426,924 (+)ENTREZGENE
CHM1_12218,593,173 - 18,614,215 (+)NCBI
T2T-CHM13v2.02218,782,719 - 18,803,642 (+)NCBI
Sequence:
RefSeq Acc Id: NM_018943   ⟹   NP_061816
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,110,809 - 18,131,732 (+)NCBI
GRCh372218,593,453 - 18,614,498 (+)ENTREZGENE
Build 362216,973,559 - 16,994,498 (+)NCBI Archive
HuRef222,405,998 - 2,426,924 (+)ENTREZGENE
CHM1_12218,593,173 - 18,614,215 (+)NCBI
T2T-CHM13v2.02218,782,719 - 18,803,642 (+)NCBI
Sequence:
RefSeq Acc Id: NP_061816   ⟸   NM_018943
- Peptide Label: isoform 1
- UniProtKB: B3KPW9 (UniProtKB/Swiss-Prot),   B2RCX2 (UniProtKB/Swiss-Prot),   Q2M3N4 (UniProtKB/Swiss-Prot),   Q9NY65 (UniProtKB/Swiss-Prot),   C9J2C0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001180343   ⟸   NM_001193414
- Peptide Label: isoform 2
- UniProtKB: B3KPS3 (UniProtKB/TrEMBL),   B3KT06 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000407624   ⟸   ENST00000426208
Ensembl Acc Id: ENSP00000412646   ⟸   ENST00000416740
Ensembl Acc Id: ENSP00000318575   ⟸   ENST00000316027
Ensembl Acc Id: ENSP00000477306   ⟸   ENST00000608634
Ensembl Acc Id: ENSP00000333326   ⟸   ENST00000330423
Ensembl Acc Id: ENSP00000505896   ⟸   ENST00000679963
Ensembl Acc Id: ENSP00000505461   ⟸   ENST00000680175
Protein Domains
Tubulin/FtsZ 2-layer sandwich   Tubulin/FtsZ GTPase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NY65-F1-model_v2 AlphaFold Q9NY65 1-449 view protein structure

Promoters
RGD ID:6800450
Promoter ID:HG_KWN:41473
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid,   NB4
Transcripts:ENST00000316027,   NM_018943,   OTTHUMT00000316269,   UC002ZNU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362216,972,521 - 16,973,602 (+)MPROMDB
RGD ID:13603144
Promoter ID:EPDNEW_H27756
Type:initiation region
Name:TUBA8_4
Description:tubulin alpha 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27757  EPDNEW_H27758  EPDNEW_H27759  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,110,343 - 18,110,403EPDNEW
RGD ID:13603146
Promoter ID:EPDNEW_H27757
Type:initiation region
Name:TUBA8_2
Description:tubulin alpha 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27756  EPDNEW_H27758  EPDNEW_H27759  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,110,809 - 18,110,869EPDNEW
RGD ID:13603148
Promoter ID:EPDNEW_H27758
Type:initiation region
Name:TUBA8_3
Description:tubulin alpha 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27756  EPDNEW_H27757  EPDNEW_H27759  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,126,461 - 18,126,521EPDNEW
RGD ID:13603152
Promoter ID:EPDNEW_H27759
Type:multiple initiation site
Name:TUBA8_1
Description:tubulin alpha 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27756  EPDNEW_H27757  EPDNEW_H27758  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,126,756 - 18,126,816EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12410 AgrOrtholog
COSMIC TUBA8 COSMIC
Ensembl Genes ENSG00000183785 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000316027 ENTREZGENE
  ENST00000316027.10 UniProtKB/Swiss-Prot
  ENST00000330423 ENTREZGENE
  ENST00000330423.8 UniProtKB/Swiss-Prot
  ENST00000416740 UniProtKB/TrEMBL
  ENST00000416740.2 UniProtKB/Swiss-Prot
  ENST00000426208.5 UniProtKB/TrEMBL
  ENST00000608634.1 UniProtKB/TrEMBL
  ENST00000679963.1 UniProtKB/TrEMBL
  ENST00000680175.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.287.600 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.1330.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.1440 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000183785 GTEx
HGNC ID HGNC:12410 ENTREZGENE
Human Proteome Map TUBA8 Human Proteome Map
InterPro Alpha_tubulin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tub_FtsZ_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin/FtsZ_2-layer-sand-dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin/FtsZ_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin/FtsZ_GTPase_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin_FtsZ_GTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51807 UniProtKB/Swiss-Prot
NCBI Gene 51807 ENTREZGENE
OMIM 605742 OMIM
PANTHER PTHR11588 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TUBULIN ALPHA-1B CHAIN UniProtKB/TrEMBL
  TUBULIN ALPHA-8 CHAIN-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Tubulin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37074 PharmGKB
PRINTS ALPHATUBULIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TUBULIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TUBULIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Tubulin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52490 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55307 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A7P0T945_HUMAN UniProtKB/TrEMBL
  A0A7P0TA31_HUMAN UniProtKB/TrEMBL
  B2RCX2 ENTREZGENE
  B3KPS3 ENTREZGENE, UniProtKB/TrEMBL
  B3KPW9 ENTREZGENE
  B3KT06 ENTREZGENE, UniProtKB/TrEMBL
  C9J2C0 ENTREZGENE, UniProtKB/TrEMBL
  C9K0S6_HUMAN UniProtKB/TrEMBL
  Q2M3N4 ENTREZGENE
  Q9NY65 ENTREZGENE, UniProtKB/Swiss-Prot
  V9GZ17_HUMAN UniProtKB/TrEMBL
UniProt Secondary B2RCX2 UniProtKB/Swiss-Prot
  B3KPW9 UniProtKB/Swiss-Prot
  B4DWG3 UniProtKB/Swiss-Prot
  Q2M3N4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-15 TUBA8  tubulin alpha 8    tubulin, alpha 8  Symbol and/or name change 5135510 APPROVED