TUBB3 (tubulin beta 3 class III) - Rat Genome Database

Name: TUBB3
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

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Gene: TUBB3 (tubulin beta 3 class III) Homo sapiens

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Symbol:

TUBB3

Name:

tubulin beta 3 class III

RGD ID:

1347965

HGNC Page

HGNC:20772

Description:

Enables GTP binding activity and netrin receptor binding activity. A structural constituent of cytoskeleton. Involved in axon guidance; dorsal root ganglion development; and microtubule cytoskeleton organization. Located in intercellular bridge; microtubule; and mitotic spindle. Is active in microtubule cytoskeleton. Implicated in complex cortical dysplasia with other brain malformations 1 and congenital fibrosis of the extraocular muscles 3A.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

beta-4; CDCBM; CDCBM1; CFEOM3; CFEOM3A; class III beta-tubulin; FEOM3; fibrosis of extraocular muscles, congenital, 3; MC1R; TUBB4; tubulin beta-3 chain; tubulin beta-4 chain; tubulin beta-III; tubulin, beta 3; tubulin, beta 3 class III; tubulin, beta, 4

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Related Pseudogenes:

TUBB3P1 TUBB3P2

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	16	89,921,925 - 89,936,097 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	16	89,921,392 - 89,938,761 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	16	89,988,333 - 90,002,505 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	88,517,246 - 88,530,006 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	16	88,517,245 - 88,530,006	NCBI
Celera	16	75,054,835 - 75,067,595 (+)	NCBI		Celera
Cytogenetic Map	16	q24.3	NCBI
HuRef	16	75,681,526 - 75,695,522 (+)	NCBI		HuRef
CHM1_1	16	91,400,537 - 91,414,621 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	16	96,008,170 - 96,022,338 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

arrhythmogenic right ventricular dysplasia 8 (IAGP)

autosomal recessive chronic granulomatous disease 4 (IAGP)

Breast Neoplasms (EXP)

complex cortical dysplasia with other brain malformations 1 (IAGP)

congenital fibrosis of the extraocular muscles (IAGP,ISS)

congenital fibrosis of the extraocular muscles 3A (EXP,IAGP)

Developmental Disease (IAGP)

Fanconi anemia (IAGP)

genetic disease (IAGP)

KBG syndrome (IAGP)

lissencephaly (IAGP)

Martsolf syndrome 1 (IAGP)

MASA syndrome (IAGP)

NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (IAGP)

Neurodevelopmental Disorders (IAGP)

Ovarian Neoplasms (EXP)

primary ciliary dyskinesia 33 (IAGP)

prostate cancer (IAGP)

spastic ataxia (IAGP)

spermatogenic failure 57 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-schisandrin B (ISO)

(-)-citrinin (EXP)

(-)-demecolcine (EXP)

(S)-amphetamine (ISO)

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (EXP)

2,2',4,4',5,5'-hexachlorobiphenyl (EXP)

2,2',4,4'-Tetrabromodiphenyl ether (EXP)

2,3',4,4',5-Pentachlorobiphenyl (ISO)

2,3,7,8-tetrachlorodibenzodioxine (EXP,ISO)

2,3,7,8-Tetrachlorodibenzofuran (ISO)

2,4,6-tribromophenol (EXP)

2,4,6-trinitrotoluene (ISO)

2,4-dibromophenyl 2,4,5-tribromophenyl ether (ISO)

2-bromohexadecanoic acid (EXP)

3',5'-cyclic AMP (EXP)

3,3',5,5'-tetrabromobisphenol A (EXP,ISO)

3,4-methylenedioxymethamphetamine (ISO)

3-chloropropane-1,2-diol (ISO)

3-isobutyl-1-methyl-7H-xanthine (EXP,ISO)

3H-1,2-dithiole-3-thione (ISO)

4,4'-sulfonyldiphenol (EXP,ISO)

4-[3-(4-tert-butylphenyl)-2-methylpropyl]-2,6-dimethylmorpholine (ISO)

4-hydroxyphenyl retinamide (EXP)

4-phenylbutyric acid (EXP)

5-aza-2'-deoxycytidine (EXP)

5-fluorouracil (ISO)

6-propyl-2-thiouracil (ISO)

9-cis-retinoic acid (EXP)

abamectin (ISO)

acrylamide (EXP)

actinomycin D (EXP)

all-trans-retinoic acid (EXP,ISO)

aluminium atom (ISO)

aluminium(0) (ISO)

ammonium chloride (ISO)

amphetamine (ISO)

Anatoxin a (EXP)

aristolochic acid A (EXP)

atorvastatin calcium (ISO)

atrazine (EXP,ISO)

Azaspiracid (EXP)

beauvericin (EXP)

benzo[a]pyrene (EXP)

benzo[a]pyrene diol epoxide I (EXP)

beta-lapachone (EXP)

bis(2-ethylhexyl) phthalate (EXP,ISO)

bisphenol A (EXP,ISO)

Bisphenol B (EXP)

bisphenol F (EXP)

butanal (EXP)

Butylbenzyl phthalate (ISO)

cadmium atom (EXP)

cadmium dichloride (EXP)

carbamazepine (EXP)

carbofuran (ISO)

carbon nanotube (ISO)

cefaloridine (ISO)

CGP 52608 (EXP)

CHIR 99021 (ISO)

chlordecone (ISO)

chloropicrin (EXP)

chlorpyrifos (ISO)

cisplatin (ISO)

cobalt dichloride (ISO)

colforsin daropate hydrochloride (EXP)

copper atom (EXP)

copper(0) (EXP)

copper(II) sulfate (EXP)

curcumin (ISO)

cyclosporin A (EXP)

cyhalothrin (ISO)

cypermethrin (EXP)

cytarabine (EXP)

DAPT (ISO)

decabromodiphenyl ether (EXP)

desferrioxamine B (ISO)

dexamethasone (EXP,ISO)

diallyl trisulfide (EXP)

dibutyl phthalate (ISO)

diclofenac (EXP)

diethyl phthalate (ISO)

diisobutyl phthalate (ISO)

diisononyl phthalate (ISO)

dimethyl sulfoxide (EXP)

dinophysistoxin 1 (EXP)

disulfiram (EXP)

Doramectin (ISO)

elemental selenium (EXP)

emodin (EXP)

endosulfan (ISO)

enniatin (EXP)

ethanol (ISO)

ethylparaben (EXP)

fenpropidin (ISO)

fluoxetine (ISO)

flusilazole (ISO)

folic acid (ISO)

fulvestrant (EXP)

fumonisin B1 (ISO)

gentamycin (ISO)

glutathione (EXP)

glyphosate (EXP,ISO)

heptachlor (ISO)

Icaritin (ISO)

indometacin (EXP)

iohexol (EXP)

iopamidol (EXP)

ivermectin (EXP)

kaempferol (ISO)

L-ascorbic acid (EXP)

lead diacetate (ISO)

lead tetraacetate (ISO)

Licochalcone B (EXP)

manganese(II) chloride (EXP)

methylmercury chloride (EXP,ISO)

monocrotaline (ISO)

N-acetyl-L-cysteine (EXP)

N-methyl-4-phenylpyridinium (ISO)

N-nitrosodiethylamine (EXP)

niclosamide (ISO)

Nutlin-3 (EXP)

ozone (ISO)

paracetamol (ISO)

paraquat (ISO)

PD123319 (ISO)

perfluorooctane-1-sulfonic acid (ISO)

phenethyl isothiocyanate (EXP)

phenol red (EXP)

pioglitazone (ISO)

pirinixic acid (EXP,ISO)

progesterone (ISO)

rotenone (EXP,ISO)

Salidroside (ISO)

Salinomycin (EXP)

sarin (ISO)

SB 431542 (EXP)

selenium atom (EXP)

silicon dioxide (EXP,ISO)

SKF-96365 hydrochloride (ISO)

sodium arsenite (EXP,ISO)

sodium dichromate (ISO)

spiroxamine (ISO)

sterigmatocystin (ISO)

sunitinib (EXP)

tamibarotene (ISO)

tamoxifen (EXP)

tetrachloromethane (ISO)

thapsigargin (EXP)

thifluzamide (EXP)

thioacetamide (ISO)

titanium dioxide (EXP,ISO)

tributylstannane (ISO)

trichloroethene (ISO)

triclosan (EXP)

triphenyl phosphate (ISO)

tunicamycin (EXP)

urethane (EXP)

valproic acid (EXP,ISO)

valsartan (ISO)

vincristine (EXP)

vitamin E (EXP)

WIN 55212-2 (EXP)

XL147 (ISO)

zinc atom (EXP,ISO)

zinc(0) (EXP,ISO)

zoledronic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

axon guidance (IBA,IEA,IMP,ISS)

cytoskeleton organization (IEA)

dorsal root ganglion development (IDA)

microtubule cytoskeleton organization (IBA,IDA)

microtubule-based process (IEA)

mitotic cell cycle (IBA)

netrin-activated signaling pathway (IEA)

neuron differentiation (IEA,ISO)

Cellular Component

axon (IEA,ISS)

cell periphery (IEA)

cell projection (IEA)

cytoplasm (IBA,IEA)

cytoskeleton (IEA)

dendrite (IEA,ISS)

extracellular exosome (HDA)

filopodium (IEA,ISS)

growth cone (IEA,ISS)

intercellular bridge (IDA,IEA)

lamellipodium (IEA,ISS)

microtubule (IBA,IDA,IEA)

microtubule cytoskeleton (IDA,IEA)

mitotic spindle (IDA,IEA)

neuronal cell body (IEA)

nucleus (HDA)

Molecular Function

GTP binding (IBA,IDA,IEA)

GTPase activity (IEA)

metal ion binding (IEA)

netrin receptor binding (IEA,IPI)

peptide binding (IEA,ISO)

protein binding (IPI)

structural constituent of cytoskeleton (IBA,IDA,IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

pathogenic Escherichia coli infection pathway (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal autonomic nervous system physiology (IAGP)

Abnormal basal ganglia morphology (IAGP)

Abnormal best corrected visual acuity test (IAGP)

Abnormal brainstem morphology (IAGP)

Abnormal cerebellar vermis morphology (IAGP)

Abnormal cerebral morphology (IAGP)

Abnormal corpus callosum morphology (IAGP)

Abnormal electroretinogram (IAGP)

Abnormal involuntary eye movements (IAGP)

Abnormal morphology of the olfactory bulb (IAGP)

Abnormal pupil shape (IAGP)

Abnormal saccadic eye movements (IAGP)

Abnormal thalamus morphology (IAGP)

Abnormal visual field test (IAGP)

Abnormality of eye movement (IAGP)

Abnormality of ocular abduction (IAGP)

Abnormality of refraction (IAGP)

Abnormality of the internal capsule (IAGP)

Agenesis of corpus callosum (IAGP)

Agenesis of the anterior commissure (IAGP)

Agyria (IAGP)

Amblyopia (IAGP)

Anisocoria (IAGP)

Aplasia of the olfactory bulb (IAGP)

Ataxia (IAGP)

Attention deficit hyperactivity disorder (IAGP)

Autosomal dominant inheritance (IAGP)

Axial hypotonia (IAGP)

Bilateral ptosis (IAGP)

Bilateral sensorineural hearing impairment (IAGP)

Camptodactyly of finger (IAGP)

Cataract (IAGP)

Cerebellar hypoplasia (IAGP)

Cerebellar vermis hypoplasia (IAGP)

Compensatory chin elevation (IAGP)

Congenital fibrosis of extraocular muscles (IAGP)

Congenital onset (IAGP)

Congenital sensorineural hearing impairment (IAGP)

Cortical dysplasia (IAGP)

Cubitus valgus (IAGP)

Delayed ability to sit (IAGP)

Delayed early-childhood social milestone development (IAGP)

Delayed fine motor development (IAGP)

Delayed gross motor development (IAGP)

Delayed speech and language development (IAGP)

Downslanted palpebral fissures (IAGP)

Dysarthria (IAGP)

Dysgenesis of the basal ganglia (IAGP)

Dysgenesis of the hippocampus (IAGP)

Dysgyria (IAGP)

Dystonia (IAGP)

Emotional lability (IAGP)

Epicanthus (IAGP)

Esotropia (IAGP)

Exotropia (IAGP)

Expressive language delay (IAGP)

Facial palsy (IAGP)

Feeding difficulties in infancy (IAGP)

Finger aplasia (IAGP)

Flat occiput (IAGP)

Focal-onset seizure (IAGP)

Frontal polymicrogyria (IAGP)

Fusion of the caudate and putamen (IAGP)

Generalized non-motor (absence) seizure (IAGP)

Genu valgum (IAGP)

Global developmental delay (IAGP)

Grasp reflex (IAGP)

High palate (IAGP)

Hypogonadotropic hypogonadism (IAGP)

Hypoplasia of the brainstem (IAGP)

Hypoplasia of the corpus callosum (IAGP)

Hypoplasia of the olfactory bulb (IAGP)

Hypoplasia of the pons (IAGP)

Hypoplastic anterior commissure (IAGP)

Hypotonia (IAGP)

Impaired mastication (IAGP)

Impaired ocular adduction (IAGP)

Inability to walk (IAGP)

Infantile axial hypotonia (IAGP)

Infantile spasms (IAGP)

Insomnia (IAGP)

Intellectual disability (IAGP)

Joint contracture of the hand (IAGP)

Joint hypermobility (IAGP)

Kyphoscoliosis (IAGP)

Large basal ganglia (IAGP)

Lateral ventricle dilatation (IAGP)

Levator palpebrae superioris atrophy (IAGP)

Limited vertical extraocular movement (IAGP)

Lissencephaly (IAGP)

Low-set ears (IAGP)

Macrocephaly (IAGP)

Marcus Gunn jaw winking synkinesis (IAGP)

Metatarsus adductus (IAGP)

Microcephaly (IAGP)

Micrognathia (IAGP)

Miosis (IAGP)

Motor stereotypy (IAGP)

Nonprogressive restrictive external ophthalmoplegia (IAGP)

Normal pressure hydrocephalus (IAGP)

Nystagmus (IAGP)

Oculomotor apraxia (IAGP)

Optic nerve hypoplasia (IAGP)

Pachygyria (IAGP)

Partial agenesis of the corpus callosum (IAGP)

Peripheral axonal neuropathy (IAGP)

Plagiocephaly (IAGP)

Polymicrogyria (IAGP)

Poor speech (IAGP)

Postnatal growth retardation (IAGP)

Primary microcephaly (IAGP)

Prostate cancer (IAGP)

Ptosis (IAGP)

Reduced social responsiveness (IAGP)

Seizure (IAGP)

Sensorineural hearing impairment (IAGP)

Severe global developmental delay (IAGP)

Short attention span (IAGP)

Short foot (IAGP)

Simplified gyral pattern (IAGP)

Slow pupillary light response (IAGP)

Small basal ganglia (IAGP)

Small hand (IAGP)

Spastic ataxia (IAGP)

Spastic diplegia (IAGP)

Spastic tetraplegia (IAGP)

Spasticity (IAGP)

Specific learning disability (IAGP)

Startle-induced seizure (IAGP)

Strabismus (IAGP)

Superior rectus atrophy (IAGP)

Thin corpus callosum (IAGP)

Thoracic scoliosis (IAGP)

Torticollis (IAGP)

Type II lissencephaly (IAGP)

Ventriculomegaly (IAGP)

Visual loss (IAGP)

Vomiting (IAGP)

Wrist flexion contracture (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
3.	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:2461292	PMID:3459176	PMID:7591286	PMID:7789418	PMID:8098743	PMID:8125298	PMID:8619990	PMID:9473684	PMID:10191277	PMID:10393037	PMID:10908577	PMID:12477932
PMID:12486001	PMID:12789263	PMID:12905530	PMID:14702039	PMID:14744259	PMID:15203218	PMID:15303970	PMID:15331610	PMID:15489334	PMID:15671559	PMID:15691386	PMID:15698476
PMID:16061864	PMID:16169070	PMID:16344560	PMID:16526095	PMID:16675570	PMID:16816122	PMID:17239008	PMID:17289895	PMID:17360745	PMID:17406983	PMID:17543088	PMID:17620599
PMID:17671431	PMID:17714470	PMID:18029348	PMID:18178340	PMID:18379434	PMID:18435451	PMID:18497984	PMID:18613978	PMID:18645017	PMID:18784752	PMID:18946987	PMID:18977553
PMID:19059912	PMID:19074767	PMID:19122647	PMID:19322201	PMID:19360438	PMID:19380743	PMID:19405953	PMID:19454010	PMID:19690549	PMID:19724850	PMID:19828208	PMID:19899405
PMID:20021611	PMID:20074521	PMID:20087230	PMID:20111909	PMID:20220512	PMID:20301522	PMID:20393110	PMID:20403547	PMID:20406197	PMID:20409569	PMID:20467437	PMID:20473970
PMID:20534991	PMID:20587520	PMID:20829227	PMID:20868593	PMID:20877724	PMID:20890123	PMID:21044950	PMID:21045157	PMID:21059598	PMID:21071418	PMID:21145461	PMID:21163067
PMID:21289518	PMID:21315408	PMID:21520077	PMID:21525035	PMID:21528130	PMID:21532586	PMID:21565611	PMID:21586171	PMID:21630459	PMID:21781528	PMID:21820201	PMID:21873635
PMID:21900206	PMID:21988832	PMID:22159867	PMID:22174317	PMID:22180309	PMID:22199357	PMID:22209775	PMID:22266860	PMID:22268729	PMID:22337587	PMID:22358390	PMID:22438565
PMID:22502701	PMID:22684772	PMID:22740207	PMID:22766748	PMID:22863883	PMID:22939629	PMID:23218766	PMID:23349634	PMID:23378218	PMID:23402259	PMID:23443559	PMID:23454725
PMID:23463506	PMID:23532817	PMID:23533145	PMID:23585021	PMID:23667531	PMID:23686814	PMID:23703321	PMID:23810210	PMID:23817083	PMID:23826228	PMID:23853246	PMID:23869586
PMID:23902687	PMID:23941826	PMID:23956138	PMID:24021646	PMID:24053422	PMID:24113009	PMID:24232867	PMID:24251416	PMID:24337577	PMID:24374158	PMID:24612975	PMID:24614595
PMID:24661907	PMID:24705847	PMID:24706829	PMID:24722794	PMID:24762590	PMID:24894670	PMID:24905733	PMID:25039376	PMID:25130963	PMID:25244496	PMID:25324306	PMID:25414139
PMID:25416788	PMID:25476789	PMID:25482575	PMID:25499913	PMID:25544769	PMID:25559402	PMID:25661915	PMID:25724666	PMID:25740311	PMID:25798074	PMID:25864199	PMID:25894372
PMID:25921289	PMID:25944111	PMID:25963833	PMID:25964544	PMID:26165688	PMID:26186194	PMID:26198101	PMID:26209609	PMID:26217791	PMID:26252353	PMID:26317901	PMID:26344197
PMID:26389662	PMID:26406408	PMID:26416565	PMID:26426765	PMID:26460568	PMID:26490262	PMID:26496610	PMID:26583432	PMID:26586574	PMID:26591579	PMID:26618866	PMID:26639658
PMID:26657157	PMID:26673895	PMID:26687479	PMID:26777405	PMID:26816005	PMID:26826352	PMID:26831064	PMID:26972000	PMID:27010057	PMID:27025967	PMID:27046833	PMID:27070645
PMID:27129203	PMID:27129302	PMID:27188792	PMID:27207668	PMID:27284014	PMID:27428177	PMID:27586205	PMID:27591049	PMID:27609421	PMID:27664236	PMID:27684187	PMID:28024114
PMID:28025079	PMID:28056823	PMID:28075472	PMID:28180282	PMID:28275089	PMID:28302793	PMID:28378594	PMID:28397704	PMID:28483977	PMID:28514442	PMID:28640948	PMID:28648944
PMID:28977470	PMID:29022485	PMID:29053956	PMID:29117863	PMID:29229926	PMID:29285303	PMID:29293652	PMID:29331416	PMID:29339176	PMID:29382549	PMID:29395067	PMID:29467282
PMID:29491095	PMID:29491746	PMID:29507755	PMID:29563501	PMID:29568061	PMID:29802200	PMID:29845934	PMID:29898993	PMID:29955894	PMID:30166453	PMID:30258100	PMID:30274258
PMID:30425250	PMID:30442766	PMID:30554943	PMID:30570863	PMID:30575818	PMID:30583584	PMID:30674344	PMID:30711942	PMID:30809309	PMID:30833792	PMID:30865227	PMID:30884312
PMID:31010829	PMID:31048545	PMID:31091453	PMID:31180492	PMID:31187490	PMID:31226147	PMID:31302631	PMID:31324722	PMID:31343991	PMID:31462707	PMID:31473790	PMID:31478661
PMID:31501420	PMID:31541710	PMID:31586073	PMID:31658275	PMID:31669268	PMID:31678930	PMID:31685807	PMID:31980649	PMID:31992359	PMID:32092782	PMID:32121295	PMID:32169460
PMID:32393512	PMID:32409323	PMID:32522106	PMID:32573066	PMID:32585672	PMID:32705776	PMID:32780723	PMID:32994395	PMID:33022573	PMID:33024031	PMID:33194618	PMID:33252195
PMID:33301849	PMID:33462405	PMID:33567341	PMID:33822514	PMID:33863777	PMID:33882306	PMID:33921132	PMID:33961781	PMID:34079125	PMID:34318630	PMID:34428256	PMID:34644545
PMID:34650049	PMID:34652576	PMID:34709727	PMID:34857952	PMID:34996871	PMID:35013218	PMID:35031058	PMID:35241646	PMID:35244772	PMID:35256949	PMID:35271311	PMID:35338135
PMID:35384245	PMID:35439318	PMID:35446349	PMID:35546148	PMID:35562734	PMID:35765833	PMID:35777956	PMID:35819319	PMID:35831314	PMID:35914814	PMID:35944360	PMID:36030824
PMID:36042349	PMID:36055981	PMID:36114006	PMID:36168628	PMID:36215168	PMID:36309617	PMID:36373674	PMID:36470425	PMID:36517590	PMID:36538041	PMID:36584595	PMID:36604567
PMID:36652389	PMID:36762613	PMID:36896912	PMID:36912080	PMID:37120454	PMID:37151849	PMID:37317656	PMID:37646890	PMID:37931956	PMID:38113892	PMID:38115797	PMID:38697112
PMID:38777146

Genomics

Comparative Map Data

TUBB3
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	16	89,921,925 - 89,936,097 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	16	89,921,392 - 89,938,761 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	16	89,988,333 - 90,002,505 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	88,517,246 - 88,530,006 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	16	88,517,245 - 88,530,006	NCBI
Celera	16	75,054,835 - 75,067,595 (+)	NCBI		Celera
Cytogenetic Map	16	q24.3	NCBI
HuRef	16	75,681,526 - 75,695,522 (+)	NCBI		HuRef
CHM1_1	16	91,400,537 - 91,414,621 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	16	96,008,170 - 96,022,338 (+)	NCBI		T2T-CHM13v2.0

Tubb3
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	8	124,138,292 - 124,148,754 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	8	124,138,163 - 124,148,754 (+)	Ensembl		GRCm39 Ensembl
GRCm38	8	123,411,553 - 123,422,015 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	8	123,411,424 - 123,422,015 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	8	125,935,464 - 125,945,910 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	8	126,297,654 - 126,308,100 (+)	NCBI		MGSCv36	mm8
Celera	8	127,654,088 - 127,664,534 (+)	NCBI		Celera
Cytogenetic Map	8	E1	NCBI
cM Map	8	72.1	NCBI

Tubb3
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	19	68,365,687 - 68,374,741 (+)	NCBI		GRCr8
mRatBN7.2	19	51,457,187 - 51,466,243 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	19	51,457,184 - 51,466,243 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	19	58,251,389 - 58,260,397 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	19	58,928,868 - 58,937,934 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	19	61,149,989 - 61,158,997 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	19	56,220,759 - 56,229,813 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	19	56,220,755 - 56,229,813 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	19	66,931,880 - 66,940,930 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	19	53,742,652 - 53,751,706 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	4	155,058,769 - 155,059,105 (+)	NCBI
Celera	19	50,689,724 - 50,698,713 (+)	NCBI		Celera
Cytogenetic Map	19	q12	NCBI

TUBB3
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	5	63,681,765 - 63,690,898 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	5	63,681,752 - 63,729,684 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	5	63,694,960 - 63,704,093 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	5	63,909,742 - 63,918,874 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	5	63,909,745 - 63,919,020 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	5	63,930,270 - 63,939,401 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	5	63,767,793 - 63,776,934 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	5	64,174,159 - 64,183,292 (-)	NCBI		UU_Cfam_GSD_1.0

Tubb3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024409349	24,431,189 - 24,440,321 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936641	184,765 - 193,819 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936641	184,736 - 193,835 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

Tubb3
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624746	124,014 - 130,476 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in TUBB3
299 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_006086.4(TUBB3):c.784C>T (p.Arg262Cys)	single nucleotide variant	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [RCV000007378]\|not provided [RCV000254974]	Chr16:89935235 [GRCh38] Chr16:90001643 [GRCh37] Chr16:16q24.3	pathogenic
NM_006086.4(TUBB3):c.904G>A (p.Ala302Thr)	single nucleotide variant	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [RCV000007379]\|not provided [RCV000386199]	Chr16:89935355 [GRCh38] Chr16:90001763 [GRCh37] Chr16:16q24.3	pathogenic
NM_006086.4(TUBB3):c.1249G>C (p.Asp417His)	single nucleotide variant	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [RCV000007380]	Chr16:89935700 [GRCh38] Chr16:90002108 [GRCh37] Chr16:16q24.3	pathogenic
NM_006086.4(TUBB3):c.1249G>A (p.Asp417Asn)	single nucleotide variant	Complex cortical dysplasia with other brain malformations 1 [RCV004689411]\|Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [RCV000007381]\|TUBB3-related tubulinopathy [RCV003982830]\|not provided [RCV001851720]	Chr16:89935700 [GRCh38] Chr16:90002108 [GRCh37] Chr16:16q24.3	pathogenic
NM_006086.4(TUBB3):c.1228G>A (p.Glu410Lys)	single nucleotide variant	Complex cortical dysplasia with other brain malformations 1 [RCV000194090]\|Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [RCV000007382]\|TUBB3-Releated Disorders [RCV001267650]\|TUBB3-related disorder [RCV004547462]\|not provided [RCV001539529]	Chr16:89935679 [GRCh38] Chr16:90002087 [GRCh37] Chr16:16q24.3	pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	copy number gain	See cases [RCV000050840]	Chr16:78816291..90081985 [GRCh38] Chr16:78850188..90148393 [GRCh37] Chr16:77407689..88675894 [NCBI36] Chr16:16q23.1-24.3	pathogenic
GRCh38/hg38 16q24.3(chr16:89830573-90044855)x1	copy number loss	See cases [RCV000050374]	Chr16:89830573..90044855 [GRCh38] Chr16:89896981..90111263 [GRCh37] Chr16:88424482..88638764 [NCBI36] Chr16:16q24.3	uncertain significance
GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	copy number gain	See cases [RCV000052422]	Chr16:70514631..90081985 [GRCh38] Chr16:70548534..90148393 [GRCh37] Chr16:69106035..88675894 [NCBI36] Chr16:16q22.1-24.3	pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	copy number gain	See cases [RCV000052421]	Chr16:65313395..90081985 [GRCh38] Chr16:65347298..90148393 [GRCh37] Chr16:63904799..88675894 [NCBI36] Chr16:16q21-24.3	pathogenic
GRCh38/hg38 16q24.3(chr16:89730086-90081985)x1	copy number loss	See cases [RCV000052022]	Chr16:89730086..90081985 [GRCh38] Chr16:89796494..90148393 [GRCh37] Chr16:88323995..88675894 [NCBI36] Chr16:16q24.3	uncertain significance
GRCh38/hg38 16q24.3(chr16:89791645-90000807)x1	copy number loss	See cases [RCV000052023]	Chr16:89791645..90000807 [GRCh38] Chr16:89858053..90067215 [GRCh37] Chr16:88385554..88594716 [NCBI36] Chr16:16q24.3	uncertain significance
GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	copy number gain	See cases [RCV000052423]	Chr16:76873569..90081985 [GRCh38] Chr16:76907466..90148393 [GRCh37] Chr16:75464967..88675894 [NCBI36] Chr16:16q23.1-24.3	pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	copy number gain	See cases [RCV000052424]	Chr16:82173150..90081985 [GRCh38] Chr16:82206755..90148393 [GRCh37] Chr16:80764256..88675894 [NCBI36] Chr16:16q23.3-24.3	pathogenic
GRCh38/hg38 16q24.1-24.3(chr16:84707538-90081985)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]\|See cases [RCV000052425]	Chr16:84707538..90081985 [GRCh38] Chr16:84741144..90148393 [GRCh37] Chr16:83298645..88675894 [NCBI36] Chr16:16q24.1-24.3	pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3	copy number gain	See cases [RCV000052428]	Chr16:87853401..90081985 [GRCh38] Chr16:87887007..90148393 [GRCh37] Chr16:86444508..88675894 [NCBI36] Chr16:16q24.2-24.3	pathogenic
GRCh38/hg38 16q24.3(chr16:89665706-90081985)x3	copy number gain	See cases [RCV000053937]	Chr16:89665706..90081985 [GRCh38] Chr16:89732114..90148393 [GRCh37] Chr16:88259615..88675894 [NCBI36] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.716C>T (p.Ser239Phe)	single nucleotide variant	not provided [RCV000657952]	Chr16:89935167 [GRCh38] Chr16:90001575 [GRCh37] Chr16:16q24.3	likely pathogenic\|uncertain significance
NM_006086.4(TUBB3):c.967A>G (p.Met323Val)	single nucleotide variant	Complex cortical dysplasia with other brain malformations 1 [RCV000023202]\|not provided [RCV002513183]	Chr16:89935418 [GRCh38] Chr16:90001826 [GRCh37] Chr16:16q24.3	pathogenic\|uncertain significance
TUBB3, THR178MET	single nucleotide variant	Cortical dysplasia, complex, with other brain malformations 1 [RCV000023203]\|Cortical dysplasia, complex, with other brain malformations [RCV000023203]	Chr16:16q24.3	pathogenic
NM_006086.4(TUBB3):c.613G>A (p.Glu205Lys)	single nucleotide variant	Complex cortical dysplasia with other brain malformations 1 [RCV000023204]\|not provided [RCV001092320]	Chr16:89935064 [GRCh38] Chr16:90001472 [GRCh37] Chr16:16q24.3	pathogenic
NM_006086.4(TUBB3):c.905C>T (p.Ala302Val)	single nucleotide variant	Complex cortical dysplasia with other brain malformations 1 [RCV000023205]	Chr16:89935356 [GRCh38] Chr16:90001764 [GRCh37] Chr16:16q24.3	pathogenic
NM_006086.4(TUBB3):c.277+8C>T	single nucleotide variant	not provided [RCV002055630]\|not specified [RCV000147850]	Chr16:89933586 [GRCh38] Chr16:89999994 [GRCh37] Chr16:16q24.3	benign
NM_006086.4(TUBB3):c.702C>T (p.Ser234=)	single nucleotide variant	not provided [RCV001727587]\|not specified [RCV000147855]	Chr16:89935153 [GRCh38] Chr16:90001561 [GRCh37] Chr16:16q24.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_006086.4(TUBB3):c.1215G>A (p.Glu405=)	single nucleotide variant	not provided [RCV000953364]\|not specified [RCV000147847]	Chr16:89935666 [GRCh38] Chr16:90002074 [GRCh37] Chr16:16q24.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_006086.4(TUBB3):c.1170G>A (p.Arg390=)	single nucleotide variant	Complex cortical dysplasia with other brain malformations 1 [RCV000147846]	Chr16:89935621 [GRCh38] Chr16:90002029 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.1331C>T (p.Ser444Leu)	single nucleotide variant	not provided [RCV002515991]\|not specified [RCV000147848]	Chr16:89935782 [GRCh38] Chr16:90002190 [GRCh37] Chr16:16q24.3	likely benign\|uncertain significance
NM_006086.4(TUBB3):c.167-6C>T	single nucleotide variant	Complex cortical dysplasia with other brain malformations 1 [RCV000147849]\|TUBB3-related disorder [RCV004551286]\|not provided [RCV002514849]	Chr16:89933462 [GRCh38] Chr16:89999870 [GRCh37] Chr16:16q24.3	benign\|likely benign\|uncertain significance
NM_006086.4(TUBB3):c.292G>A (p.Gly98Ser)	single nucleotide variant	Complex cortical dysplasia with other brain malformations 1 [RCV000147851]\|Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [RCV000203608]\|Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [RCV003457644]\|TUBB3-related disorder [RCV004724928]\|not provided [RCV000255388]	Chr16:89934743 [GRCh38] Chr16:90001151 [GRCh37] Chr16:16q24.3	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_006086.4(TUBB3):c.58-22C>T	single nucleotide variant	not provided [RCV001610453]\|not specified [RCV000147852]	Chr16:89932549 [GRCh38] Chr16:89998957 [GRCh37] Chr16:16q24.3	benign\|likely benign
NM_006086.4(TUBB3):c.58-49C>T	single nucleotide variant	not provided [RCV001640186]\|not specified [RCV000147853]	Chr16:89932522 [GRCh38] Chr16:89998930 [GRCh37] Chr16:16q24.3	benign\|likely benign
NM_006086.4(TUBB3):c.666C>T (p.Tyr222=)	single nucleotide variant	TUBB3-related disorder [RCV004551287]\|not provided [RCV000900037]\|not specified [RCV000147854]	Chr16:89935117 [GRCh38] Chr16:90001525 [GRCh37] Chr16:16q24.3	benign\|likely benign
NM_006086.4(TUBB3):c.728C>T (p.Pro243Leu)	single nucleotide variant	Complex cortical dysplasia with other brain malformations 1 [RCV000147856]\|Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [RCV000764099]\|not provided [RCV001550956]	Chr16:89935179 [GRCh38] Chr16:90001587 [GRCh37] Chr16:16q24.3	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_006086.4(TUBB3):c.740A>G (p.Asn247Ser)	single nucleotide variant	Complex cortical dysplasia with other brain malformations 1 [RCV000147857]	Chr16:89935191 [GRCh38] Chr16:90001599 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.993G>A (p.Leu331=)	single nucleotide variant	Complex cortical dysplasia with other brain malformations 1 [RCV000147858]	Chr16:89935444 [GRCh38] Chr16:90001852 [GRCh37] Chr16:16q24.3	uncertain significance
GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	copy number gain	See cases [RCV000135659]	Chr16:83988570..90081985 [GRCh38] Chr16:84022175..90148393 [GRCh37] Chr16:82579676..88675894 [NCBI36] Chr16:16q23.3-24.3	likely pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	copy number gain	See cases [RCV000136898]	Chr16:80946659..90081985 [GRCh38] Chr16:80980556..90148393 [GRCh37] Chr16:79538057..88675894 [NCBI36] Chr16:16q23.2-24.3	pathogenic\|likely pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	copy number gain	See cases [RCV000137495]	Chr16:70749398..90096995 [GRCh38] Chr16:70783301..90163403 [GRCh37] Chr16:69340802..88690904 [NCBI36] Chr16:16q22.1-24.3	pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3	copy number gain	See cases [RCV000138161]	Chr16:87848216..90096995 [GRCh38] Chr16:87881822..90163403 [GRCh37] Chr16:86439323..88690904 [NCBI36] Chr16:16q24.2-24.3	likely pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	copy number gain	See cases [RCV000137980]	Chr16:83478453..89932910 [GRCh38] Chr16:83512058..89999318 [GRCh37] Chr16:82069559..88526819 [NCBI36] Chr16:16q23.3-24.3	likely pathogenic
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	copy number gain	See cases [RCV000139426]	Chr16:65511483..90096995 [GRCh38] Chr16:65545386..90163403 [GRCh37] Chr16:64102887..88690904 [NCBI36] Chr16:16q21-24.3	pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	copy number gain	See cases [RCV000139302]	Chr16:75377981..90081992 [GRCh38] Chr16:75411879..90148400 [GRCh37] Chr16:73969380..88675901 [NCBI36] Chr16:16q23.1-24.3	pathogenic
GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3	copy number gain	See cases [RCV000139658]	Chr16:85552976..90096995 [GRCh38] Chr16:85586582..90163403 [GRCh37] Chr16:84144083..88690904 [NCBI36] Chr16:16q24.1-24.3	pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	copy number gain	See cases [RCV000141128]	Chr16:80717291..90096662 [GRCh38] Chr16:80751188..90163070 [GRCh37] Chr16:79308689..88690571 [NCBI36] Chr16:16q23.2-24.3	pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	copy number gain	See cases [RCV000141700]	Chr16:76336203..90088654 [GRCh38] Chr16:76370100..90155062 [GRCh37] Chr16:74927601..88682563 [NCBI36] Chr16:16q23.1-24.3	pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	copy number gain	See cases [RCV000142578]	Chr16:64389378..90081985 [GRCh38] Chr16:64423281..90148393 [GRCh37] Chr16:62980782..88675894 [NCBI36] Chr16:16q21-24.3	pathogenic\|likely pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	copy number gain	See cases [RCV000142698]	Chr16:80067315..90057871 [GRCh38] Chr16:80101212..90124279 [GRCh37] Chr16:78658713..88651780 [NCBI36] Chr16:16q23.2-24.3	pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	copy number gain	See cases [RCV000143425]	Chr16:52899183..90088654 [GRCh38] Chr16:52933095..90155062 [GRCh37] Chr16:51490596..88682563 [NCBI36] Chr16:16q12.2-24.3	pathogenic
GRCh38/hg38 16q24.3(chr16:89830573-90044855)x1	copy number loss	See cases [RCV000148110]	Chr16:89830573..90044855 [GRCh38] Chr16:89896981..90111263 [GRCh37] Chr16:88424482..88638764 [NCBI36] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.1172G>T (p.Arg391Leu)	single nucleotide variant	not provided [RCV000254819]	Chr16:89935623 [GRCh38] Chr16:90002031 [GRCh37] Chr16:16q24.3	pathogenic
NM_006086.4(TUBB3):c.921C>T (p.His307=)	single nucleotide variant	Complex cortical dysplasia with other brain malformations 1 [RCV001335375]\|TUBB3-related disorder [RCV004553005]\|not provided [RCV000724458]\|not specified [RCV001818437]	Chr16:89935372 [GRCh38] Chr16:90001780 [GRCh37] Chr16:16q24.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_006086.4(TUBB3):c.1287G>A (p.Thr429=)	single nucleotide variant	not provided [RCV000891842]\|not specified [RCV000194746]	Chr16:89935738 [GRCh38] Chr16:90002146 [GRCh37] Chr16:16q24.3	benign\|conflicting interpretations of pathogenicity\|uncertain significance
GRCh37/hg19 16q24.3(chr16:89836157-90127980)x1	copy number loss	See cases [RCV000240112]	Chr16:89836157..90127980 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.190A>G (p.Ile64Val)	single nucleotide variant	not specified [RCV000192764]	Chr16:89933491 [GRCh38] Chr16:89999899 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.946G>A (p.Val316Met)	single nucleotide variant	not provided [RCV002304204]\|not specified [RCV000193882]	Chr16:89935397 [GRCh38] Chr16:90001805 [GRCh37] Chr16:16q24.3	uncertain significance
GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	copy number gain	See cases [RCV000240108]	Chr16:74872514..90274440 [GRCh37] Chr16:16q23.1-24.3	pathogenic
t(5;16)(p15.31;q23.1)	translocation	not provided [RCV000203391]	Chr5:1..8180513 [GRCh37] Chr16:76935310..90354753 [GRCh37] Chr5:5p15.33-15.31 Chr16:16q23.1-24.3	likely pathogenic
NM_006086.4(TUBB3):c.1200C>T (p.Gly400=)	single nucleotide variant	Complex cortical dysplasia with other brain malformations 1 [RCV000258316]\|not provided [RCV002518793]	Chr16:89935651 [GRCh38] Chr16:90002059 [GRCh37] Chr16:16q24.3	likely benign\|uncertain significance
NM_006086.4(TUBB3):c.1288G>C (p.Ala430Pro)	single nucleotide variant	Malignant tumor of prostate [RCV000206304]	Chr16:89935739 [GRCh38] Chr16:90002147 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.211G>A (p.Gly71Arg)	single nucleotide variant	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [RCV000203606]\|TUBB3-related disorder [RCV004554750]\|TUBB3-related tubulinopathy [RCV003982950]\|not provided [RCV000301357]	Chr16:89933512 [GRCh38] Chr16:89999920 [GRCh37] Chr16:16q24.3	pathogenic\|not provided
NM_006086.4(TUBB3):c.785G>A (p.Arg262His)	single nucleotide variant	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [RCV000203607]\|TUBB3-related disorder [RCV004553109]\|TUBB3-related tubulinopathy [RCV001270742]\|not provided [RCV000519071]	Chr16:89935236 [GRCh38] Chr16:90001644 [GRCh37] Chr16:16q24.3	pathogenic\|likely pathogenic
NM_006086.4(TUBB3):c.185G>A (p.Arg62Gln)	single nucleotide variant	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [RCV000203610]	Chr16:89933486 [GRCh38] Chr16:89999894 [GRCh37] Chr16:16q24.3	pathogenic\|uncertain significance\|not provided
NM_006086.4(TUBB3):c.1138C>T (p.Arg380Cys)	single nucleotide variant	Complex cortical dysplasia with other brain malformations 1 [RCV001804943]\|Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [RCV000203611]\|Inborn genetic diseases [RCV001267589]\|not provided [RCV000255747]	Chr16:89935589 [GRCh38] Chr16:90001997 [GRCh37] Chr16:16q24.3	pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	copy number loss	Breast ductal adenocarcinoma [RCV000207138]	Chr16:46615804..90142285 [GRCh37] Chr16:16q11.2-24.3	uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1	copy number loss	Breast ductal adenocarcinoma [RCV000207182]	Chr16:72107834..90142285 [GRCh37] Chr16:16q22.2-24.3	uncertain significance
c.1228G>A	variation	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [RCV000210368]	Chr16:16q24.3	pathogenic
Single allele	complex	Breast ductal adenocarcinoma [RCV000207314]	Chr16:56368689..90141355 [GRCh37] Chr16:16q12.2-24.3	uncertain significance
NM_006086.4(TUBB3):c.1162A>G (p.Met388Val)	single nucleotide variant	Complex cortical dysplasia with other brain malformations 1 [RCV000225239]\|not provided [RCV001782715]	Chr16:89935613 [GRCh38] Chr16:90002021 [GRCh37] Chr16:16q24.3	pathogenic\|likely pathogenic
GRCh37/hg19 16q24.3(chr16:89696893-90103214)x3	copy number gain	See cases [RCV000240330]	Chr16:89696893..90103214 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.533C>T (p.Thr178Met)	single nucleotide variant	Complex cortical dysplasia with other brain malformations 1 [RCV000023203]\|Inborn genetic diseases [RCV000624084]\|not provided [RCV000254864]	Chr16:89934984 [GRCh38] Chr16:90001392 [GRCh37] Chr16:16q24.3	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_006086.4(TUBB3):c.1169G>C (p.Arg390Pro)	single nucleotide variant	not provided [RCV000315449]	Chr16:89935620 [GRCh38] Chr16:90002028 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.689C>T (p.Ser230Leu)	single nucleotide variant	Complex cortical dysplasia with other brain malformations 1 [RCV001526950]\|not provided [RCV000386583]	Chr16:89935140 [GRCh38] Chr16:90001548 [GRCh37] Chr16:16q24.3	pathogenic\|likely pathogenic
NM_006086.4(TUBB3):c.357G>A (p.Val119=)	single nucleotide variant	TUBB3-related disorder [RCV004547670]\|not provided [RCV000725127]	Chr16:89934808 [GRCh38] Chr16:90001216 [GRCh37] Chr16:16q24.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_006086.4(TUBB3):c.507C>T (p.Val169=)	single nucleotide variant	TUBB3-related disorder [RCV004549618]\|not provided [RCV000331671]	Chr16:89934958 [GRCh38] Chr16:90001366 [GRCh37] Chr16:16q24.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_006086.4(TUBB3):c.606C>T (p.Ile202=)	single nucleotide variant	TUBB3-related disorder [RCV004547664]\|not provided [RCV000725014]\|not specified [RCV000370232]	Chr16:89935057 [GRCh38] Chr16:90001465 [GRCh37] Chr16:16q24.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_006086.4(TUBB3):c.834C>G (p.Ser278Arg)	single nucleotide variant	not provided [RCV000489711]	Chr16:89935285 [GRCh38] Chr16:90001693 [GRCh37] Chr16:16q24.3	likely pathogenic
NM_006086.4(TUBB3):c.278-175C>G	single nucleotide variant	not provided [RCV001566419]	Chr16:89934554 [GRCh38] Chr16:90000962 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.557C>T (p.Thr186Met)	single nucleotide variant	not provided [RCV003224006]	Chr16:89935008 [GRCh38] Chr16:90001416 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.200A>T (p.Asp67Val)	single nucleotide variant	not provided [RCV003314781]	Chr16:89933501 [GRCh38] Chr16:89999909 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.166+12C>T	single nucleotide variant	not provided [RCV002529482]\|not specified [RCV000606763]	Chr16:89932691 [GRCh38] Chr16:89999099 [GRCh37] Chr16:16q24.3	benign\|likely benign
NM_006086.4(TUBB3):c.1156A>T (p.Thr386Ser)	single nucleotide variant	not provided [RCV001092321]	Chr16:89935607 [GRCh38] Chr16:90002015 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.982G>A (p.Glu328Lys)	single nucleotide variant	Complex cortical dysplasia with other brain malformations 1 [RCV000415062]\|not provided [RCV002524671]	Chr16:89935433 [GRCh38] Chr16:90001841 [GRCh37] Chr16:16q24.3	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_006086.4(TUBB3):c.763G>A (p.Val255Ile)	single nucleotide variant	Complex cortical dysplasia with other brain malformations 1 [RCV001843359]\|TUBB3-related disorder [RCV001788210]\|not provided [RCV000412886]	Chr16:89935214 [GRCh38] Chr16:90001622 [GRCh37] Chr16:16q24.3	pathogenic\|likely pathogenic\|not provided
NM_006086.4(TUBB3):c.614A>C (p.Glu205Ala)	single nucleotide variant	not provided [RCV000413256]	Chr16:89935065 [GRCh38] Chr16:90001473 [GRCh37] Chr16:16q24.3	likely pathogenic
NM_006086.4(TUBB3):c.71T>C (p.Ile24Thr)	single nucleotide variant	not provided [RCV000729110]	Chr16:89932584 [GRCh38] Chr16:89998992 [GRCh37] Chr16:16q24.3	uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3	copy number gain	See cases [RCV000446110]	Chr16:46464488..90155062 [GRCh37] Chr16:16q11.2-24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	copy number gain	See cases [RCV000446684]	Chr16:69193..90274381 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
NM_006086.4(TUBB3):c.862G>A (p.Glu288Lys)	single nucleotide variant	Abnormal cerebral morphology [RCV002275022]\|Complex cortical dysplasia with other brain malformations 1 [RCV000824822]\|not provided [RCV000422965]	Chr16:89935313 [GRCh38] Chr16:90001721 [GRCh37] Chr16:16q24.3	pathogenic\|likely pathogenic
NM_006086.4(TUBB3):c.1113C>T (p.Ser371=)	single nucleotide variant	not specified [RCV000442957]	Chr16:89935564 [GRCh38] Chr16:90001972 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.741C>T (p.Asn247=)	single nucleotide variant	not provided [RCV002062720]\|not specified [RCV000429003]	Chr16:89935192 [GRCh38] Chr16:90001600 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.109G>A (p.Val37Met)	single nucleotide variant	not provided [RCV000432537]	Chr16:89932622 [GRCh38] Chr16:89999030 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.167-5C>G	single nucleotide variant	TUBB3-related disorder [RCV004551500]\|not provided [RCV000887231]\|not specified [RCV000443702]	Chr16:89933463 [GRCh38] Chr16:89999871 [GRCh37] Chr16:16q24.3	benign\|likely benign
NM_006086.4(TUBB3):c.1317C>T (p.Asp439=)	single nucleotide variant	not provided [RCV000974543]\|not specified [RCV000440247]	Chr16:89935768 [GRCh38] Chr16:90002176 [GRCh37] Chr16:16q24.3	benign
NM_006086.4(TUBB3):c.855C>T (p.Thr285=)	single nucleotide variant	TUBB3-related disorder [RCV004551497]\|not provided [RCV000919203]	Chr16:89935306 [GRCh38] Chr16:90001714 [GRCh37] Chr16:16q24.3	likely benign
GRCh37/hg19 16q24.3(chr16:89880964-90133246)x3	copy number gain	See cases [RCV000448757]	Chr16:89880964..90133246 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.766A>T (p.Asn256Tyr)	single nucleotide variant	not provided [RCV000479424]	Chr16:89935217 [GRCh38] Chr16:90001625 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.1081C>A (p.Leu361Ile)	single nucleotide variant	not provided [RCV000486752]	Chr16:89935532 [GRCh38] Chr16:90001940 [GRCh37] Chr16:16q24.3	likely pathogenic
NM_006086.4(TUBB3):c.845G>C (p.Arg282Pro)	single nucleotide variant	not provided [RCV000480489]	Chr16:89935296 [GRCh38] Chr16:90001704 [GRCh37] Chr16:16q24.3	likely pathogenic
NM_006086.4(TUBB3):c.1195A>T (p.Thr399Ser)	single nucleotide variant	not specified [RCV000503348]	Chr16:89935646 [GRCh38] Chr16:90002054 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.1206C>T (p.Gly402=)	single nucleotide variant	not provided [RCV002524323]\|not specified [RCV000503382]	Chr16:89935657 [GRCh38] Chr16:90002065 [GRCh37] Chr16:16q24.3	likely benign\|uncertain significance
NM_006086.4(TUBB3):c.435C>T (p.Ser145=)	single nucleotide variant	TUBB3-related disorder [RCV004551637]\|not provided [RCV000905556]\|not specified [RCV000499837]	Chr16:89934886 [GRCh38] Chr16:90001294 [GRCh37] Chr16:16q24.3	benign
NM_006086.4(TUBB3):c.1023C>T (p.Phe341=)	single nucleotide variant	not specified [RCV000501947]	Chr16:89935474 [GRCh38] Chr16:90001882 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.856G>A (p.Val286Met)	single nucleotide variant	not specified [RCV000500275]	Chr16:89935307 [GRCh38] Chr16:90001715 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.536T>C (p.Val179Ala)	single nucleotide variant	not specified [RCV000500305]	Chr16:89934987 [GRCh38] Chr16:90001395 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.1209G>C (p.Met403Ile)	single nucleotide variant	not provided [RCV000493628]	Chr16:89935660 [GRCh38] Chr16:90002068 [GRCh37] Chr16:16q24.3	likely pathogenic
NM_006086.4(TUBB3):c.1139G>A (p.Arg380His)	single nucleotide variant	not provided [RCV000493675]	Chr16:89935590 [GRCh38] Chr16:90001998 [GRCh37] Chr16:16q24.3	pathogenic\|uncertain significance
NM_006086.4(TUBB3):c.1165T>G (p.Phe389Val)	single nucleotide variant	not provided [RCV000493707]	Chr16:89935616 [GRCh38] Chr16:90002024 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.424G>A (p.Gly142Ser)	single nucleotide variant	Complex cortical dysplasia with other brain malformations 1 [RCV002056825]\|Congenital fibrosis of extraocular muscles [RCV002264946]\|not provided [RCV000493980]	Chr16:89934875 [GRCh38] Chr16:90001283 [GRCh37] Chr16:16q24.3	pathogenic\|likely pathogenic\|not provided
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	copy number gain	See cases [RCV000511296]	Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	copy number gain	See cases [RCV000512138]	Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	copy number loss	Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429]	Chr16:46497599..90354753 [GRCh37] Chr16:16q11.2-24.3	drug response
NM_006086.4(TUBB3):c.447G>A (p.Thr149=)	single nucleotide variant	TUBB3-related disorder [RCV004547755]\|not provided [RCV000913451]\|not specified [RCV000612358]	Chr16:89934898 [GRCh38] Chr16:90001306 [GRCh37] Chr16:16q24.3	benign\|likely benign
NM_006086.4(TUBB3):c.278-7T>G	single nucleotide variant	not provided [RCV002528721]\|not specified [RCV000615760]	Chr16:89934722 [GRCh38] Chr16:90001130 [GRCh37] Chr16:16q24.3	benign\|likely benign
NM_006086.4(TUBB3):c.882C>T (p.Phe294=)	single nucleotide variant	not provided [RCV002531665]\|not specified [RCV000600386]	Chr16:89935333 [GRCh38] Chr16:90001741 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.58-19del	deletion	not provided [RCV003767544]\|not specified [RCV000608131]	Chr16:89932552 [GRCh38] Chr16:89998960 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.523G>C (p.Val175Leu)	single nucleotide variant	Inborn genetic diseases [RCV000623368]	Chr16:89934974 [GRCh38] Chr16:90001382 [GRCh37] Chr16:16q24.3	pathogenic
NM_006086.4(TUBB3):c.90C>T (p.Ile30=)	single nucleotide variant	not provided [RCV000882270]	Chr16:89932603 [GRCh38] Chr16:89999011 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.136C>T (p.Arg46Trp)	single nucleotide variant	Complex cortical dysplasia with other brain malformations 1 [RCV000656083]\|Developmental disorder [RCV003126774]\|Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [RCV001824143]\|not provided [RCV002461261]	Chr16:89932649 [GRCh38] Chr16:89999057 [GRCh37] Chr16:16q24.3	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_006086.4(TUBB3):c.1197G>A (p.Thr399=)	single nucleotide variant	not provided [RCV001704755]	Chr16:89935648 [GRCh38] Chr16:90002056 [GRCh37] Chr16:16q24.3	likely benign\|conflicting interpretations of pathogenicity
NM_006086.4(TUBB3):c.210C>T (p.Pro70=)	single nucleotide variant	not provided [RCV000996420]\|not specified [RCV000605354]	Chr16:89933511 [GRCh38] Chr16:89999919 [GRCh37] Chr16:16q24.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
GRCh37/hg19 16q24.1-24.3(chr16:85838574-90155062)x3	copy number gain	See cases [RCV000512440]	Chr16:85838574..90155062 [GRCh37] Chr16:16q24.1-24.3	pathogenic
GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3	copy number gain	See cases [RCV000512468]	Chr16:83001540..90155062 [GRCh37] Chr16:16q23.3-24.3	likely pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	copy number loss	Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435]	Chr16:46455960..90354753 [GRCh37] Chr16:16q11.2-24.3	drug response
NM_006086.4(TUBB3):c.1307T>C (p.Met436Thr)	single nucleotide variant	not provided [RCV000658065]	Chr16:89935758 [GRCh38] Chr16:90002166 [GRCh37] Chr16:16q24.3	uncertain significance
GRCh37/hg19 16q24.3(chr16:89828398-90155062)x3	copy number gain	not provided [RCV000683861]	Chr16:89828398..90155062 [GRCh37] Chr16:16q24.3	uncertain significance
GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3	copy number gain	not provided [RCV000683845]	Chr16:79400436..90155062 [GRCh37] Chr16:16q23.2-24.3	pathogenic
GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3	copy number gain	not provided [RCV000683831]	Chr16:72515938..90155062 [GRCh37] Chr16:16q22.2-24.3	pathogenic
NM_006086.4(TUBB3):c.752G>A (p.Arg251His)	single nucleotide variant	not provided [RCV001573752]	Chr16:89935203 [GRCh38] Chr16:90001611 [GRCh37] Chr16:16q24.3	uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3	copy number gain	not provided [RCV000738917]	Chr16:88165..90163275 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3	copy number gain	not provided [RCV000738918]	Chr16:88165..90274695 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3	copy number gain	not provided [RCV000738915]	Chr16:61451..90294632 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
NM_006086.4(TUBB3):c.*213C>T	single nucleotide variant	not provided [RCV001612387]	Chr16:89936017 [GRCh38] Chr16:90002425 [GRCh37] Chr16:16q24.3	benign
NM_001197181.2(TUBB3):c.-160+799G>A	single nucleotide variant	not provided [RCV001667716]	Chr16:89923044 [GRCh38] Chr16:89989452 [GRCh37] Chr16:16q24.3	benign
NM_006086.4(TUBB3):c.1291G>T (p.Glu431Ter)	single nucleotide variant	not provided [RCV003239254]	Chr16:89935742 [GRCh38] Chr16:90002150 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.1024G>A (p.Val342Met)	single nucleotide variant	Spastic ataxia [RCV001647245]	Chr16:89935475 [GRCh38] Chr16:90001883 [GRCh37] Chr16:16q24.3	likely pathogenic
NM_006086.4(TUBB3):c.631T>C (p.Cys211Arg)	single nucleotide variant	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [RCV000754774]	Chr16:89935082 [GRCh38] Chr16:90001490 [GRCh37] Chr16:16q24.3	uncertain significance
GRCh37/hg19 16q24.3(chr16:89970520-90027489)x1	copy number loss	not provided [RCV000751840]	Chr16:89970520..90027489 [GRCh37] Chr16:16q24.3	benign
GRCh37/hg19 16q24.3(chr16:89979494-90015976)x3	copy number gain	not provided [RCV000751843]	Chr16:89979494..90015976 [GRCh37] Chr16:16q24.3	benign
NM_006086.4(TUBB3):c.1336G>A (p.Ala446Thr)	single nucleotide variant	not provided [RCV000903349]	Chr16:89935787 [GRCh38] Chr16:90002195 [GRCh37] Chr16:16q24.3	benign\|likely benign
NM_006086.4(TUBB3):c.1257G>T (p.Val419=)	single nucleotide variant	not provided [RCV000904419]	Chr16:89935708 [GRCh38] Chr16:90002116 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.972G>A (p.Lys324=)	single nucleotide variant	not provided [RCV000898909]	Chr16:89935423 [GRCh38] Chr16:90001831 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.993G>C (p.Leu331=)	single nucleotide variant	not provided [RCV000926097]	Chr16:89935444 [GRCh38] Chr16:90001852 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.1158G>A (p.Thr386=)	single nucleotide variant	not provided [RCV000916792]	Chr16:89935609 [GRCh38] Chr16:90002017 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.1233C>T (p.Ala411=)	single nucleotide variant	not provided [RCV000979156]	Chr16:89935684 [GRCh38] Chr16:90002092 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.903C>T (p.Ala301=)	single nucleotide variant	not provided [RCV000908593]	Chr16:89935354 [GRCh38] Chr16:90001762 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.99C>T (p.Ser33=)	single nucleotide variant	not provided [RCV000909519]	Chr16:89932612 [GRCh38] Chr16:89999020 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.1260C>T (p.Ser420=)	single nucleotide variant	not provided [RCV000917144]	Chr16:89935711 [GRCh38] Chr16:90002119 [GRCh37] Chr16:16q24.3	likely benign
GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381)	copy number gain	not provided [RCV000767619]	Chr16:82761333..90055381 [GRCh37] Chr16:16q23.3-24.3	pathogenic
NM_006086.4(TUBB3):c.-30G>T	single nucleotide variant	not provided [RCV000827499]	Chr16:89923372 [GRCh38] Chr16:89989780 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.278-212T>C	single nucleotide variant	not provided [RCV000829404]	Chr16:89934517 [GRCh38] Chr16:90000925 [GRCh37] Chr16:16q24.3	benign
NM_006086.4(TUBB3):c.58-185G>A	single nucleotide variant	not provided [RCV000829401]	Chr16:89932386 [GRCh38] Chr16:89932386..89932387 [GRCh38] Chr16:89998794 [GRCh37] Chr16:89998794..89998795 [GRCh37] Chr16:16q24.3	benign
GRCh37/hg19 16q24.3(chr16:89991078-90155062)x3	copy number gain	not provided [RCV000847889]	Chr16:89991078..90155062 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.277+58C>T	single nucleotide variant	not provided [RCV000833280]	Chr16:89933636 [GRCh38] Chr16:90000044 [GRCh37] Chr16:16q24.3	benign
NM_006086.4(TUBB3):c.1312G>C (p.Glu438Gln)	single nucleotide variant	not provided [RCV000798971]	Chr16:89935763 [GRCh38] Chr16:90002171 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.228C>T (p.Val76=)	single nucleotide variant	not provided [RCV000919258]	Chr16:89933529 [GRCh38] Chr16:89999937 [GRCh37] Chr16:16q24.3	benign
NM_006086.4(TUBB3):c.1057G>A (p.Val353Met)	single nucleotide variant	not provided [RCV000996421]	Chr16:89935508 [GRCh38] Chr16:90001916 [GRCh37] Chr16:16q24.3	uncertain significance
NM_001197181.2(TUBB3):c.-160+1028C>T	single nucleotide variant	not provided [RCV001548568]	Chr16:89923273 [GRCh38] Chr16:89989681 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.189C>T (p.Ala63=)	single nucleotide variant	not provided [RCV001638586]	Chr16:89933490 [GRCh38] Chr16:89999898 [GRCh37] Chr16:16q24.3	benign
NM_006086.4(TUBB3):c.277+198C>T	single nucleotide variant	not provided [RCV001652775]	Chr16:89933776 [GRCh38] Chr16:90000184 [GRCh37] Chr16:16q24.3	benign
NM_006086.4(TUBB3):c.1070C>T (p.Pro357Leu)	single nucleotide variant	not provided [RCV001554947]	Chr16:89935521 [GRCh38] Chr16:90001929 [GRCh37] Chr16:16q24.3	pathogenic\|conflicting interpretations of pathogenicity
NM_006086.4(TUBB3):c.205G>A (p.Glu69Lys)	single nucleotide variant	not provided [RCV002284680]	Chr16:89933506 [GRCh38] Chr16:89999914 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.278-97G>C	single nucleotide variant	not provided [RCV001615885]	Chr16:89934632 [GRCh38] Chr16:90001040 [GRCh37] Chr16:16q24.3	benign
NM_006086.4(TUBB3):c.805G>A (p.Gly269Ser)	single nucleotide variant	Complex cortical dysplasia with other brain malformations 1 [RCV004762161]\|not provided [RCV001563193]	Chr16:89935256 [GRCh38] Chr16:90001664 [GRCh37] Chr16:16q24.3	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_006086.4(TUBB3):c.1056C>T (p.Ala352=)	single nucleotide variant	not provided [RCV000925370]	Chr16:89935507 [GRCh38] Chr16:90001915 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.381C>T (p.Cys127=)	single nucleotide variant	not provided [RCV000931203]	Chr16:89934832 [GRCh38] Chr16:90001240 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.657G>A (p.Thr219=)	single nucleotide variant	not provided [RCV000916700]	Chr16:89935108 [GRCh38] Chr16:90001516 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.783G>C (p.Pro261=)	single nucleotide variant	not provided [RCV000929348]	Chr16:89935234 [GRCh38] Chr16:90001642 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.221A>G (p.Asp74Gly)	single nucleotide variant	not provided [RCV001092319]	Chr16:89933522 [GRCh38] Chr16:89999930 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.166+4A>C	single nucleotide variant	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [RCV003233249]	Chr16:89932683 [GRCh38] Chr16:89999091 [GRCh37] Chr16:16q24.3	not provided
NM_006086.4(TUBB3):c.638G>A (p.Arg213His)	single nucleotide variant	not provided [RCV003235869]	Chr16:89935089 [GRCh38] Chr16:90001497 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.33G>C (p.Gln11His)	single nucleotide variant	X-linked hydrocephalus syndrome [RCV001723250]	Chr16:89923434 [GRCh38] Chr16:89989842 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.728C>G (p.Pro243Arg)	single nucleotide variant	not provided [RCV001594139]	Chr16:89935179 [GRCh38] Chr16:90001587 [GRCh37] Chr16:16q24.3	likely pathogenic
NM_006086.4(TUBB3):c.936G>A (p.Thr312=)	single nucleotide variant	not provided [RCV001598584]	Chr16:89935387 [GRCh38] Chr16:90001795 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.58-21C>G	single nucleotide variant	not provided [RCV001611550]	Chr16:89932550 [GRCh38] Chr16:89998958 [GRCh37] Chr16:16q24.3	benign
NM_001197181.2(TUBB3):c.-160+868T>A	single nucleotide variant	not provided [RCV001587739]	Chr16:89923113 [GRCh38] Chr16:89989521 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.1091C>T (p.Ser364Phe)	single nucleotide variant	not provided [RCV001584576]	Chr16:89935542 [GRCh38] Chr16:90001950 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.58-235C>G	single nucleotide variant	not provided [RCV001649957]	Chr16:89932336 [GRCh38] Chr16:89998744 [GRCh37] Chr16:16q24.3	benign
NM_006086.4(TUBB3):c.225T>C (p.Ser75=)	single nucleotide variant	not provided [RCV001647945]	Chr16:89933526 [GRCh38] Chr16:89999934 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.*78T>C	single nucleotide variant	not provided [RCV001671633]	Chr16:89935882 [GRCh38] Chr16:90002290 [GRCh37] Chr16:16q24.3	benign
NM_006086.4(TUBB3):c.58-331T>G	single nucleotide variant	not provided [RCV001694620]	Chr16:89932240 [GRCh38] Chr16:89998648 [GRCh37] Chr16:16q24.3	benign
NM_006086.4(TUBB3):c.46A>T (p.Ile16Phe)	single nucleotide variant	not provided [RCV001575554]	Chr16:89923447 [GRCh38] Chr16:89989855 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.167-21C>G	single nucleotide variant	not provided [RCV001567168]\|not specified [RCV001699587]	Chr16:89933447 [GRCh38] Chr16:89999855 [GRCh37] Chr16:16q24.3	benign\|likely benign
NM_006086.4(TUBB3):c.58-20dup	duplication	not provided [RCV001530652]	Chr16:89932544..89932545 [GRCh38] Chr16:89998952..89998953 [GRCh37] Chr16:16q24.3	benign
NM_006086.4(TUBB3):c.863A>C (p.Glu288Ala)	single nucleotide variant	Complex cortical dysplasia with other brain malformations 1 [RCV001198782]	Chr16:89935314 [GRCh38] Chr16:90001722 [GRCh37] Chr16:16q24.3	likely pathogenic
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	copy number gain	not provided [RCV001249359]	Chr16:61524229..90155062 [GRCh37] Chr16:16q21-24.3	not provided
NM_006086.4(TUBB3):c.577G>A (p.Val193Met)	single nucleotide variant	Complex cortical dysplasia with other brain malformations 1 [RCV001252385]	Chr16:89935028 [GRCh38] Chr16:90001436 [GRCh37] Chr16:16q24.3	pathogenic
GRCh37/hg19 16q24.3(chr16:89499489-90125146)x3	copy number gain	not provided [RCV001259286]	Chr16:89499489..90125146 [GRCh37] Chr16:16q24.3	uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:88222732-90155062)x3	copy number gain	not provided [RCV001258663]	Chr16:88222732..90155062 [GRCh37] Chr16:16q24.2-24.3	uncertain significance
GRCh37/hg19 16q24.3(chr16:89156662-90023446)x3	copy number gain	not provided [RCV001258667]	Chr16:89156662..90023446 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.1071G>A (p.Pro357=)	single nucleotide variant	not provided [RCV001572488]	Chr16:89935522 [GRCh38] Chr16:90001930 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.730G>T (p.Gly244Cys)	single nucleotide variant	TUBB3-related tubulinopathy [RCV001270741]\|not provided [RCV001760316]	Chr16:89935181 [GRCh38] Chr16:90001589 [GRCh37] Chr16:16q24.3	likely pathogenic\|uncertain significance
NM_006086.4(TUBB3):c.446C>T (p.Thr149Met)	single nucleotide variant	Complex cortical dysplasia with other brain malformations 1 [RCV001332737]\|not provided [RCV001760431]	Chr16:89934897 [GRCh38] Chr16:90001305 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.1318G>C (p.Asp440His)	single nucleotide variant	not provided [RCV001342419]	Chr16:89935769 [GRCh38] Chr16:90002177 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.1163T>C (p.Met388Thr)	single nucleotide variant	Lissencephaly [RCV001291309]	Chr16:89935614 [GRCh38] Chr16:90002022 [GRCh37] Chr16:16q24.3	likely pathogenic
NM_006086.4(TUBB3):c.836A>G (p.Gln279Arg)	single nucleotide variant	not provided [RCV001296111]	Chr16:89935287 [GRCh38] Chr16:90001695 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.436G>A (p.Gly146Ser)	single nucleotide variant	not provided [RCV001509542]	Chr16:89934887 [GRCh38] Chr16:90001295 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.*148G>A	single nucleotide variant	not provided [RCV001608984]	Chr16:89935952 [GRCh38] Chr16:89935952..89935953 [GRCh38] Chr16:90002360 [GRCh37] Chr16:90002360..90002361 [GRCh37] Chr16:16q24.3	benign
NM_006086.4(TUBB3):c.278-242C>T	single nucleotide variant	not provided [RCV001612167]	Chr16:89934487 [GRCh38] Chr16:90000895 [GRCh37] Chr16:16q24.3	benign
NM_006086.4(TUBB3):c.813C>T (p.Ala271=)	single nucleotide variant	not provided [RCV001755237]	Chr16:89935264 [GRCh38] Chr16:90001672 [GRCh37] Chr16:16q24.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_006086.4(TUBB3):c.330G>A (p.Ala110=)	single nucleotide variant	TUBB3-related disorder [RCV004551995]\|not provided [RCV001762828]	Chr16:89934781 [GRCh38] Chr16:90001189 [GRCh37] Chr16:16q24.3	benign\|likely benign
NC_000016.9:g.(?_87636753)_(90109753_?)dup	duplication	Fanconi anemia [RCV004579589]\|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003119313]\|Primary ciliary dyskinesia 33 [RCV003109228]	Chr16:87636753..90109753 [GRCh37] Chr16:16q24.2-24.3	uncertain significance
NM_006086.4(TUBB3):c.952C>T (p.Arg318Trp)	single nucleotide variant	not provided [RCV001763485]	Chr16:89935403 [GRCh38] Chr16:90001811 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.178G>T (p.Val60Leu)	single nucleotide variant	Complex cortical dysplasia with other brain malformations 1 [RCV001775244]	Chr16:89933479 [GRCh38] Chr16:89999887 [GRCh37] Chr16:16q24.3	likely pathogenic
NM_006086.4(TUBB3):c.1261G>A (p.Glu421Lys)	single nucleotide variant	not provided [RCV001772811]	Chr16:89935712 [GRCh38] Chr16:90002120 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.386G>A (p.Cys129Tyr)	single nucleotide variant	not provided [RCV001765377]	Chr16:89934837 [GRCh38] Chr16:90001245 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.925C>T (p.Arg309Cys)	single nucleotide variant	Complex cortical dysplasia with other brain malformations 1 [RCV003128274]\|not provided [RCV001786720]	Chr16:89935376 [GRCh38] Chr16:90001784 [GRCh37] Chr16:16q24.3	likely pathogenic\|uncertain significance
NM_006086.4(TUBB3):c.1267C>T (p.Gln423Ter)	single nucleotide variant	not provided [RCV001774403]\|not specified [RCV003317525]	Chr16:89935718 [GRCh38] Chr16:90002126 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.963G>A (p.Met321Ile)	single nucleotide variant	not provided [RCV001751946]	Chr16:89935414 [GRCh38] Chr16:90001822 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.1139G>C (p.Arg380Pro)	single nucleotide variant	Complex cortical dysplasia with other brain malformations 1 [RCV001775403]	Chr16:89935590 [GRCh38] Chr16:90001998 [GRCh37] Chr16:16q24.3	likely pathogenic
NM_006086.4(TUBB3):c.9G>C (p.Glu3Asp)	single nucleotide variant	not provided [RCV001752651]	Chr16:89923410 [GRCh38] Chr16:89989818 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.515C>T (p.Ser172Leu)	single nucleotide variant	not provided [RCV001765563]	Chr16:89934966 [GRCh38] Chr16:90001374 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.318C>G (p.Tyr106Ter)	single nucleotide variant	not provided [RCV001760660]	Chr16:89934769 [GRCh38] Chr16:90001177 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.1147G>A (p.Glu383Lys)	single nucleotide variant	not provided [RCV001771495]	Chr16:89935598 [GRCh38] Chr16:90002006 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.677A>G (p.Asn226Ser)	single nucleotide variant	not provided [RCV001816184]	Chr16:89935128 [GRCh38] Chr16:90001536 [GRCh37] Chr16:16q24.3	uncertain significance
GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3	copy number gain	not provided [RCV001795551]	Chr16:80386595..90163348 [GRCh37] Chr16:16q23.2-24.3	pathogenic
NM_006086.4(TUBB3):c.1337C>T (p.Ala446Val)	single nucleotide variant	not provided [RCV001758151]	Chr16:89935788 [GRCh38] Chr16:90002196 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.935C>T (p.Thr312Met)	single nucleotide variant	Arrhythmogenic right ventricular dysplasia 8 [RCV001849564]\|Complex cortical dysplasia with other brain malformations 1 [RCV004555883]\|not provided [RCV001757952]	Chr16:89935386 [GRCh38] Chr16:90001794 [GRCh37] Chr16:16q24.3	likely pathogenic\|uncertain significance\|not provided
NM_006086.4(TUBB3):c.534G>A (p.Thr178=)	single nucleotide variant	TUBB3-related disorder [RCV004552041]\|not provided [RCV003728023]\|not specified [RCV001819511]	Chr16:89934985 [GRCh38] Chr16:90001393 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.212G>C (p.Gly71Ala)	single nucleotide variant	not provided [RCV001817699]	Chr16:89933513 [GRCh38] Chr16:89999921 [GRCh37] Chr16:16q24.3	likely pathogenic
GRCh37/hg19 16q24.2-24.3(chr16:88000389-90155062)x3	copy number gain	not provided [RCV001829158]	Chr16:88000389..90155062 [GRCh37] Chr16:16q24.2-24.3	uncertain significance
NM_006086.4(TUBB3):c.137G>A (p.Arg46Gln)	single nucleotide variant	not provided [RCV001843614]	Chr16:89932650 [GRCh38] Chr16:89999058 [GRCh37] Chr16:16q24.3	likely pathogenic\|uncertain significance
NM_006086.4(TUBB3):c.845G>A (p.Arg282Gln)	single nucleotide variant	not provided [RCV001837670]	Chr16:89935296 [GRCh38] Chr16:90001704 [GRCh37] Chr16:16q24.3	likely pathogenic
NM_006086.4(TUBB3):c.508G>A (p.Val170Met)	single nucleotide variant	Congenital fibrosis of extraocular muscles type 1 [RCV001844430]	Chr16:89934959 [GRCh38] Chr16:90001367 [GRCh37] Chr16:16q24.3	not provided
NM_006086.4(TUBB3):c.198G>A (p.Val66=)	single nucleotide variant	not provided [RCV001927343]	Chr16:89933499 [GRCh38] Chr16:89999907 [GRCh37] Chr16:16q24.3	uncertain significance
GRCh37/hg19 16q24.3(chr16:89337891-90155062)x3	copy number gain	not provided [RCV001827759]	Chr16:89337891..90155062 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.1239C>G (p.Ser413Arg)	single nucleotide variant	not provided [RCV001886817]	Chr16:89935690 [GRCh38] Chr16:90002098 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.815C>A (p.Pro272His)	single nucleotide variant	not provided [RCV002027010]	Chr16:89935266 [GRCh38] Chr16:90001674 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.860C>T (p.Pro287Leu)	single nucleotide variant	not provided [RCV001898600]	Chr16:89935311 [GRCh38] Chr16:90001719 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.1116G>A (p.Thr372=)	single nucleotide variant	TUBB3-related disorder [RCV004738528]\|not provided [RCV002091157]	Chr16:89935567 [GRCh38] Chr16:90001975 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.717C>G (p.Ser239=)	single nucleotide variant	not provided [RCV002095978]	Chr16:89935168 [GRCh38] Chr16:90001576 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.759G>A (p.Leu253=)	single nucleotide variant	not provided [RCV002193560]	Chr16:89935210 [GRCh38] Chr16:90001618 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.762C>T (p.Ala254=)	single nucleotide variant	not provided [RCV002137807]	Chr16:89935213 [GRCh38] Chr16:90001621 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.1332G>A (p.Ser444=)	single nucleotide variant	not provided [RCV002098859]	Chr16:89935783 [GRCh38] Chr16:90002191 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.1077C>T (p.Arg359=)	single nucleotide variant	not provided [RCV002136019]	Chr16:89935528 [GRCh38] Chr16:90001936 [GRCh37] Chr16:16q24.3	likely benign
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	copy number gain	not provided [RCV002221458]	Chr16:46503968..90155062 [GRCh37] Chr16:16q11.2-24.3	pathogenic
NM_006086.4(TUBB3):c.861C>T (p.Pro287=)	single nucleotide variant	not provided [RCV002101536]	Chr16:89935312 [GRCh38] Chr16:90001720 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.975G>A (p.Glu325=)	single nucleotide variant	not provided [RCV002154437]	Chr16:89935426 [GRCh38] Chr16:90001834 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.929A>G (p.Tyr310Cys)	single nucleotide variant	Complex cortical dysplasia with other brain malformations 1 [RCV002226820]	Chr16:89935380 [GRCh38] Chr16:90001788 [GRCh37] Chr16:16q24.3	likely pathogenic
NC_000016.9:g.(?_89611036)_(90106937_?)dup	duplication	Fanconi anemia [RCV003119385]	Chr16:89611036..90106937 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.467G>A (p.Arg156His)	single nucleotide variant	not provided [RCV004593212]\|not specified [RCV003123455]	Chr16:89934918 [GRCh38] Chr16:90001326 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.377A>C (p.Asn126Thr)	single nucleotide variant	not provided [RCV003129251]	Chr16:89934828 [GRCh38] Chr16:90001236 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.644T>A (p.Leu215His)	single nucleotide variant	See cases [RCV002253110]	Chr16:89935095 [GRCh38] Chr16:90001503 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.970A>C (p.Lys324Gln)	single nucleotide variant	not provided [RCV003149383]	Chr16:89935421 [GRCh38] Chr16:90001829 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.328G>A (p.Ala110Thr)	single nucleotide variant	not provided [RCV003129335]	Chr16:89934779 [GRCh38] Chr16:90001187 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.535G>C (p.Val179Leu)	single nucleotide variant	Abnormal cerebral morphology [RCV002275459]	Chr16:89934986 [GRCh38] Chr16:90001394 [GRCh37] Chr16:16q24.3	likely pathogenic
NM_006086.4(TUBB3):c.1271A>C (p.Gln424Pro)	single nucleotide variant	not provided [RCV002288170]	Chr16:89935722 [GRCh38] Chr16:90002130 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.572_574del (p.Gln191del)	deletion	Complex cortical dysplasia with other brain malformations 1 [RCV002265527]	Chr16:89935022..89935024 [GRCh38] Chr16:90001430..90001432 [GRCh37] Chr16:16q24.3	not provided
NM_006086.4(TUBB3):c.817C>G (p.Leu273Val)	single nucleotide variant	See cases [RCV002287664]	Chr16:89935268 [GRCh38] Chr16:90001676 [GRCh37] Chr16:16q24.3	likely pathogenic
GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	copy number gain	Syndromic anorectal malformation [RCV002286607]	Chr16:71641395..90161959 [GRCh37] Chr16:16q22.2-24.3	likely pathogenic
NM_006086.4(TUBB3):c.683T>C (p.Leu228Pro)	single nucleotide variant	not provided [RCV002288005]	Chr16:89935134 [GRCh38] Chr16:90001542 [GRCh37] Chr16:16q24.3	pathogenic
NM_006086.4(TUBB3):c.166+6T>C	single nucleotide variant	not provided [RCV002288189]	Chr16:89932685 [GRCh38] Chr16:89999093 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.320C>T (p.Thr107Met)	single nucleotide variant	not provided [RCV002261560]	Chr16:89934771 [GRCh38] Chr16:90001179 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.484C>T (p.Arg162Cys)	single nucleotide variant	Complex cortical dysplasia with other brain malformations 1 [RCV002291108]	Chr16:89934935 [GRCh38] Chr16:90001343 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.313C>A (p.His105Asn)	single nucleotide variant	Complex cortical dysplasia with other brain malformations 1 [RCV002291127]	Chr16:89934764 [GRCh38] Chr16:90001172 [GRCh37] Chr16:16q24.3	likely pathogenic
NM_006086.4(TUBB3):c.271A>G (p.Ile91Val)	single nucleotide variant	not provided [RCV002291444]	Chr16:89933572 [GRCh38] Chr16:89999980 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.578T>C (p.Val193Ala)	single nucleotide variant	not provided [RCV002265075]	Chr16:89935029 [GRCh38] Chr16:90001437 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.895A>G (p.Met299Val)	single nucleotide variant	not provided [RCV003156680]	Chr16:89935346 [GRCh38] Chr16:90001754 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.1172G>A (p.Arg391His)	single nucleotide variant	not provided [RCV002469528]	Chr16:89935623 [GRCh38] Chr16:90002031 [GRCh37] Chr16:16q24.3	likely pathogenic
NM_006086.4(TUBB3):c.492G>T (p.Met164Ile)	single nucleotide variant	not provided [RCV002474231]	Chr16:89934943 [GRCh38] Chr16:90001351 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.1343G>A (p.Gly448Asp)	single nucleotide variant	Complex cortical dysplasia with other brain malformations 1 [RCV003140401]\|TUBB3-related disorder [RCV004554041]	Chr16:89935794 [GRCh38] Chr16:90002202 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.926G>A (p.Arg309His)	single nucleotide variant	not provided [RCV002304497]	Chr16:89935377 [GRCh38] Chr16:90001785 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.1031G>A (p.Trp344Ter)	single nucleotide variant	Martsolf syndrome 1 [RCV002305666]	Chr16:89935482 [GRCh38] Chr16:90001890 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.1001A>G (p.Gln334Arg)	single nucleotide variant	not provided [RCV002301853]	Chr16:89935452 [GRCh38] Chr16:90001860 [GRCh37] Chr16:16q24.3	likely benign\|uncertain significance
NM_006086.4(TUBB3):c.1013G>A (p.Ser338Asn)	single nucleotide variant	not provided [RCV002462708]	Chr16:89935464 [GRCh38] Chr16:90001872 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.1329G>A (p.Glu443=)	single nucleotide variant	not provided [RCV002690117]	Chr16:89935780 [GRCh38] Chr16:90002188 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.189C>G (p.Ala63=)	single nucleotide variant	not provided [RCV002613756]	Chr16:89933490 [GRCh38] Chr16:89999898 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.833G>A (p.Ser278Asn)	single nucleotide variant	not provided [RCV002839077]	Chr16:89935284 [GRCh38] Chr16:90001692 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.58-17T>C	single nucleotide variant	not provided [RCV002842176]	Chr16:89932554 [GRCh38] Chr16:89998962 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.1080C>T (p.Gly360=)	single nucleotide variant	not provided [RCV002903982]	Chr16:89935531 [GRCh38] Chr16:90001939 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.897G>T (p.Met299Ile)	single nucleotide variant	not provided [RCV002839330]	Chr16:89935348 [GRCh38] Chr16:90001756 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.418G>T (p.Gly140Trp)	single nucleotide variant	not provided [RCV002462566]	Chr16:89934869 [GRCh38] Chr16:90001277 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.1146C>T (p.Ser382=)	single nucleotide variant	not provided [RCV002819329]	Chr16:89935597 [GRCh38] Chr16:90002005 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.5G>A (p.Arg2Lys)	single nucleotide variant	Complex cortical dysplasia with other brain malformations 1 [RCV003322637]\|not provided [RCV003038132]	Chr16:89923406 [GRCh38] Chr16:89989814 [GRCh37] Chr16:16q24.3	likely pathogenic\|uncertain significance
NM_006086.4(TUBB3):c.895A>T (p.Met299Leu)	single nucleotide variant	not provided [RCV003002497]	Chr16:89935346 [GRCh38] Chr16:90001754 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.756G>C (p.Lys252Asn)	single nucleotide variant	Inborn genetic diseases [RCV002761898]	Chr16:89935207 [GRCh38] Chr16:90001615 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.58-19T>C	single nucleotide variant	not provided [RCV002621592]	Chr16:89932552 [GRCh38] Chr16:89998960 [GRCh37] Chr16:16q24.3	benign
NM_006086.4(TUBB3):c.680A>G (p.His227Arg)	single nucleotide variant	not provided [RCV003021085]	Chr16:89935131 [GRCh38] Chr16:90001539 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.277+6T>C	single nucleotide variant	not provided [RCV002639065]	Chr16:89933584 [GRCh38] Chr16:89999992 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.609C>T (p.Asp203=)	single nucleotide variant	not provided [RCV002957166]	Chr16:89935060 [GRCh38] Chr16:90001468 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.916C>T (p.Arg306Cys)	single nucleotide variant	not provided [RCV002700711]	Chr16:89935367 [GRCh38] Chr16:90001775 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.783G>A (p.Pro261=)	single nucleotide variant	not provided [RCV002596650]	Chr16:89935234 [GRCh38] Chr16:90001642 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.414G>A (p.Ser138=)	single nucleotide variant	not provided [RCV002596674]	Chr16:89934865 [GRCh38] Chr16:90001273 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.1286C>T (p.Thr429Met)	single nucleotide variant	not provided [RCV003043656]	Chr16:89935737 [GRCh38] Chr16:90002145 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.854C>T (p.Thr285Ile)	single nucleotide variant	not provided [RCV003059863]	Chr16:89935305 [GRCh38] Chr16:90001713 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.57+17C>T	single nucleotide variant	not provided [RCV002572605]	Chr16:89923475 [GRCh38] Chr16:89989883 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.804C>T (p.Pro268=)	single nucleotide variant	not provided [RCV003083268]	Chr16:89935255 [GRCh38] Chr16:90001663 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.826C>T (p.Arg276Trp)	single nucleotide variant	Inborn genetic diseases [RCV003059908]\|not provided [RCV003059907]	Chr16:89935277 [GRCh38] Chr16:90001685 [GRCh37] Chr16:16q24.3	likely pathogenic\|uncertain significance
NM_006086.4(TUBB3):c.915G>A (p.Pro305=)	single nucleotide variant	not provided [RCV002625476]	Chr16:89935366 [GRCh38] Chr16:90001774 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.505G>A (p.Val169Ile)	single nucleotide variant	not provided [RCV003023078]	Chr16:89934956 [GRCh38] Chr16:90001364 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.107A>G (p.Tyr36Cys)	single nucleotide variant	not provided [RCV003006335]	Chr16:89932620 [GRCh38] Chr16:89999028 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.922G>A (p.Gly308Ser)	single nucleotide variant	not provided [RCV003025682]	Chr16:89935373 [GRCh38] Chr16:90001781 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.1321G>A (p.Glu441Lys)	single nucleotide variant	not provided [RCV002918546]\|not specified [RCV003403952]	Chr16:89935772 [GRCh38] Chr16:90002180 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.474G>C (p.Glu158Asp)	single nucleotide variant	not provided [RCV002741175]	Chr16:89934925 [GRCh38] Chr16:90001333 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.1323G>C (p.Glu441Asp)	single nucleotide variant	Inborn genetic diseases [RCV002744106]	Chr16:89935774 [GRCh38] Chr16:90002182 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.684G>C (p.Leu228=)	single nucleotide variant	not provided [RCV002624646]	Chr16:89935135 [GRCh38] Chr16:90001543 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.342T>C (p.Asp114=)	single nucleotide variant	not provided [RCV002624645]	Chr16:89934793 [GRCh38] Chr16:90001201 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.348C>G (p.Val116=)	single nucleotide variant	not provided [RCV002651245]	Chr16:89934799 [GRCh38] Chr16:90001207 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.558G>A (p.Thr186=)	single nucleotide variant	not provided [RCV003011044]	Chr16:89935009 [GRCh38] Chr16:90001417 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.120G>T (p.Ser40=)	single nucleotide variant	not provided [RCV002715647]	Chr16:89932633 [GRCh38] Chr16:89999041 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.119C>T (p.Ser40Leu)	single nucleotide variant	Inborn genetic diseases [RCV002855786]	Chr16:89932632 [GRCh38] Chr16:89999040 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.1227C>T (p.Thr409=)	single nucleotide variant	not provided [RCV002631024]	Chr16:89935678 [GRCh38] Chr16:90002086 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.588G>A (p.Thr196=)	single nucleotide variant	not provided [RCV003089344]	Chr16:89935039 [GRCh38] Chr16:90001447 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.899del (p.Met300fs)	deletion	Inborn genetic diseases [RCV002717755]	Chr16:89935350 [GRCh38] Chr16:90001758 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.960C>T (p.Arg320=)	single nucleotide variant	not provided [RCV002579916]	Chr16:89935411 [GRCh38] Chr16:90001819 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.278-16T>C	single nucleotide variant	not provided [RCV002576878]	Chr16:89934713 [GRCh38] Chr16:90001121 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.418G>A (p.Gly140Arg)	single nucleotide variant	Inborn genetic diseases [RCV002748626]	Chr16:89934869 [GRCh38] Chr16:90001277 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.750G>A (p.Leu250=)	single nucleotide variant	not provided [RCV002658434]	Chr16:89935201 [GRCh38] Chr16:90001609 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.167-20G>A	single nucleotide variant	not provided [RCV002612893]	Chr16:89933448 [GRCh38] Chr16:89999856 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.114C>T (p.Gly38=)	single nucleotide variant	not provided [RCV002635039]	Chr16:89932627 [GRCh38] Chr16:89999035 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.670G>A (p.Asp224Asn)	single nucleotide variant	not provided [RCV003327880]	Chr16:89935121 [GRCh38] Chr16:90001529 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.439A>C (p.Met147Leu)	single nucleotide variant	not provided [RCV003159398]	Chr16:89934890 [GRCh38] Chr16:90001298 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.50G>T (p.Gly17Val)	single nucleotide variant	not provided [RCV003159445]	Chr16:89923451 [GRCh38] Chr16:89989859 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.1138C>A (p.Arg380Ser)	single nucleotide variant	Complex cortical dysplasia with other brain malformations 1 [RCV003223515]	Chr16:89935589 [GRCh38] Chr16:90001997 [GRCh37] Chr16:16q24.3	likely pathogenic
NM_006086.4(TUBB3):c.580G>A (p.Glu194Lys)	single nucleotide variant	not provided [RCV003139188]	Chr16:89935031 [GRCh38] Chr16:90001439 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.958C>T (p.Arg320Cys)	single nucleotide variant	Complex cortical dysplasia with other brain malformations 1 [RCV003340863]	Chr16:89935409 [GRCh38] Chr16:90001817 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.801G>A (p.Met267Ile)	single nucleotide variant	not provided [RCV003332655]	Chr16:89935252 [GRCh38] Chr16:90001660 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.277+143C>T	single nucleotide variant	not provided [RCV003419540]	Chr16:89933721 [GRCh38] Chr16:90000129 [GRCh37] Chr16:16q24.3	benign
NM_006086.4(TUBB3):c.350T>C (p.Leu117Pro)	single nucleotide variant	Complex cortical dysplasia with other brain malformations 1 [RCV003333595]	Chr16:89934801 [GRCh38] Chr16:90001209 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.802C>T (p.Pro268Ser)	single nucleotide variant	not provided [RCV003570870]	Chr16:89935253 [GRCh38] Chr16:90001661 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.344C>T (p.Ser115Leu)	single nucleotide variant	Complex cortical dysplasia with other brain malformations 1 [RCV003482197]	Chr16:89934795 [GRCh38] Chr16:90001203 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.291C>T (p.Ala97=)	single nucleotide variant	not provided [RCV003428018]	Chr16:89934742 [GRCh38] Chr16:90001150 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.647A>G (p.Lys216Arg)	single nucleotide variant	TUBB3-related disorder [RCV004550721]	Chr16:89935098 [GRCh38] Chr16:90001506 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.1188C>G (p.His396Gln)	single nucleotide variant	Neurodevelopmental disorder [RCV003389173]	Chr16:89935639 [GRCh38] Chr16:90002047 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.115G>A (p.Asp39Asn)	single nucleotide variant	not provided [RCV003428016]	Chr16:89932628 [GRCh38] Chr16:89999036 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.844C>G (p.Arg282Gly)	single nucleotide variant	TUBB3-related disorder [RCV004550588]	Chr16:89935295 [GRCh38] Chr16:90001703 [GRCh37] Chr16:16q24.3	likely pathogenic\|uncertain significance
NM_006086.4(TUBB3):c.278-404C>T	single nucleotide variant	not provided [RCV003413065]	Chr16:89934325 [GRCh38] Chr16:90000733 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.277+155G>A	single nucleotide variant	not provided [RCV003428017]	Chr16:89933733 [GRCh38] Chr16:90000141 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.58-3C>A	single nucleotide variant	not provided [RCV003828282]	Chr16:89932568 [GRCh38] Chr16:89998976 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.49G>C (p.Gly17Arg)	single nucleotide variant	not provided [RCV003689760]	Chr16:89923450 [GRCh38] Chr16:89989858 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.278-19C>T	single nucleotide variant	not provided [RCV003830514]	Chr16:89934710 [GRCh38] Chr16:90001118 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.523G>T (p.Val175Leu)	single nucleotide variant	not provided [RCV003694757]	Chr16:89934974 [GRCh38] Chr16:90001382 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.72C>T (p.Ile24=)	single nucleotide variant	not provided [RCV003825296]	Chr16:89932585 [GRCh38] Chr16:89998993 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.1326G>A (p.Glu442=)	single nucleotide variant	not provided [RCV003825471]	Chr16:89935777 [GRCh38] Chr16:90002185 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.31C>A (p.Gln11Lys)	single nucleotide variant	not provided [RCV003716704]	Chr16:89923432 [GRCh38] Chr16:89989840 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.5G>T (p.Arg2Met)	single nucleotide variant	not provided [RCV003578817]	Chr16:89923406 [GRCh38] Chr16:89989814 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.167-19A>C	single nucleotide variant	not provided [RCV003715525]	Chr16:89933449 [GRCh38] Chr16:89999857 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.501C>T (p.Phe167=)	single nucleotide variant	not provided [RCV003811139]	Chr16:89934952 [GRCh38] Chr16:90001360 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.1303G>A (p.Glu435Lys)	single nucleotide variant	not provided [RCV003833785]	Chr16:89935754 [GRCh38] Chr16:90002162 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.58-20C>T	single nucleotide variant	not provided [RCV003833100]	Chr16:89932551 [GRCh38] Chr16:89998959 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.816C>G (p.Pro272=)	single nucleotide variant	not provided [RCV003559802]	Chr16:89935267 [GRCh38] Chr16:90001675 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.278-5T>C	single nucleotide variant	not provided [RCV003664495]	Chr16:89934724 [GRCh38] Chr16:90001132 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.345G>A (p.Ser115=)	single nucleotide variant	not provided [RCV003717085]	Chr16:89934796 [GRCh38] Chr16:90001204 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.138G>A (p.Arg46=)	single nucleotide variant	not provided [RCV003816161]	Chr16:89932651 [GRCh38] Chr16:89999059 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.1128G>T (p.Glu376Asp)	single nucleotide variant	not provided [RCV003561700]	Chr16:89935579 [GRCh38] Chr16:90001987 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.909C>T (p.Cys303=)	single nucleotide variant	not provided [RCV003835790]	Chr16:89935360 [GRCh38] Chr16:90001768 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.156C>G (p.Asn52Lys)	single nucleotide variant	not provided [RCV003838427]	Chr16:89932669 [GRCh38] Chr16:89999077 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.904G>T (p.Ala302Ser)	single nucleotide variant	not provided [RCV003565700]	Chr16:89935355 [GRCh38] Chr16:90001763 [GRCh37] Chr16:16q24.3	pathogenic
NM_006086.4(TUBB3):c.1157C>T (p.Thr386Met)	single nucleotide variant	not provided [RCV003847110]	Chr16:89935608 [GRCh38] Chr16:90002016 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.166+8C>A	single nucleotide variant	not provided [RCV003670849]	Chr16:89932687 [GRCh38] Chr16:89999095 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.229C>T (p.Arg77Cys)	single nucleotide variant	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [RCV003984298]	Chr16:89933530 [GRCh38] Chr16:89999938 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.1044C>T (p.Asn348=)	single nucleotide variant	not provided [RCV003722000]	Chr16:89935495 [GRCh38] Chr16:90001903 [GRCh37] Chr16:16q24.3	benign
NM_006086.4(TUBB3):c.985C>G (p.Gln329Glu)	single nucleotide variant	not provided [RCV003684790]	Chr16:89935436 [GRCh38] Chr16:90001844 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.371G>C (p.Cys124Ser)	single nucleotide variant	TUBB3-related tubulinopathy [RCV003983793]	Chr16:89934822 [GRCh38] Chr16:90001230 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.552C>T (p.Asn184=)	single nucleotide variant	not provided [RCV003732650]	Chr16:89935003 [GRCh38] Chr16:90001411 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.418G>C (p.Gly140Arg)	single nucleotide variant	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [RCV003991834]	Chr16:89934869 [GRCh38] Chr16:90001277 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.596C>T (p.Thr199Ile)	single nucleotide variant	not provided [RCV003887324]	Chr16:89935047 [GRCh38] Chr16:90001455 [GRCh37] Chr16:16q24.3	likely pathogenic
NM_006086.4(TUBB3):c.1248C>T (p.Asn416=)	single nucleotide variant	TUBB3-related disorder [RCV004548862]	Chr16:89935699 [GRCh38] Chr16:90002107 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.639C>T (p.Arg213=)	single nucleotide variant	TUBB3-related disorder [RCV004551037]	Chr16:89935090 [GRCh38] Chr16:90001498 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.95C>G (p.Pro32Arg)	single nucleotide variant	not specified [RCV003988562]	Chr16:89932608 [GRCh38] Chr16:89999016 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.325G>C (p.Gly109Arg)	single nucleotide variant	TUBB3-related disorder [RCV004548964]	Chr16:89934776 [GRCh38] Chr16:90001184 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.953G>A (p.Arg318Gln)	single nucleotide variant	Male infertility with azoospermia or oligozoospermia due to single gene mutation [RCV003991633]	Chr16:89935404 [GRCh38] Chr16:90001812 [GRCh37] Chr16:16q24.3	likely pathogenic
NM_006086.4(TUBB3):c.673C>T (p.Leu225Phe)	single nucleotide variant	TUBB3-related disorder [RCV004552873]	Chr16:89935124 [GRCh38] Chr16:90001532 [GRCh37] Chr16:16q24.3	uncertain significance
GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3	copy number gain	not provided [RCV004577473]	Chr16:82865402..90163542 [GRCh37] Chr16:16q23.3-24.3	pathogenic
NM_006086.4(TUBB3):c.1226C>T (p.Thr409Ile)	single nucleotide variant	Inborn genetic diseases [RCV004481626]	Chr16:89935677 [GRCh38] Chr16:90002085 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.959G>T (p.Arg320Leu)	single nucleotide variant	Inborn genetic diseases [RCV004481627]\|not provided [RCV004767555]	Chr16:89935410 [GRCh38] Chr16:90001818 [GRCh37] Chr16:16q24.3	uncertain significance
NC_000016.9:g.(?_88717344)_(90106937_?)dup	duplication	KBG syndrome [RCV004581568]	Chr16:88717344..90106937 [GRCh37] Chr16:16q24.3	uncertain significance
NC_000016.9:g.(?_89865554)_(90109753_?)del	deletion	Fanconi anemia [RCV004581468]	Chr16:89865554..90109753 [GRCh37] Chr16:16q24.3	pathogenic
NC_000016.9:g.(?_89874682)_(90002212_?)del	deletion	Fanconi anemia [RCV004581477]	Chr16:89874682..90002212 [GRCh37] Chr16:16q24.3	pathogenic
NM_006086.4(TUBB3):c.26C>A (p.Ala9Asp)	single nucleotide variant	not specified [RCV004689481]	Chr16:89923427 [GRCh38] Chr16:89989835 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.1016G>C (p.Ser339Thr)	single nucleotide variant	Inborn genetic diseases [RCV004682969]	Chr16:89935467 [GRCh38] Chr16:90001875 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.387C>T (p.Cys129=)	single nucleotide variant	not provided [RCV004585430]	Chr16:89934838 [GRCh38] Chr16:90001246 [GRCh37] Chr16:16q24.3	likely benign
NM_006086.4(TUBB3):c.1015A>T (p.Ser339Cys)	single nucleotide variant	Inborn genetic diseases [RCV004682968]	Chr16:89935466 [GRCh38] Chr16:90001874 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.900G>A (p.Met300Ile)	single nucleotide variant	TUBB3-related disorder [RCV004736755]	Chr16:89935351 [GRCh38] Chr16:90001759 [GRCh37] Chr16:16q24.3	likely pathogenic
NM_006086.4(TUBB3):c.772G>T (p.Val258Leu)	single nucleotide variant	not provided [RCV004725913]	Chr16:89935223 [GRCh38] Chr16:90001631 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.83A>G (p.His28Arg)	single nucleotide variant	not provided [RCV004759914]		uncertain significance
NM_006086.4(TUBB3):c.358G>T (p.Val120Leu)	single nucleotide variant	not provided [RCV004760101]		uncertain significance
NM_006086.4(TUBB3):c.205G>C (p.Glu69Gln)	single nucleotide variant	not provided [RCV004760166]		uncertain significance
NM_006086.4(TUBB3):c.1282G>A (p.Ala428Thr)	single nucleotide variant	not provided [RCV004773523]	Chr16:89935733 [GRCh38] Chr16:90002141 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.1334A>G (p.Glu445Gly)	single nucleotide variant	not provided [RCV004761631]		uncertain significance
NM_006086.4(TUBB3):c.1213G>C (p.Glu405Gln)	single nucleotide variant	not provided [RCV004772569]	Chr16:89935664 [GRCh38] Chr16:90002072 [GRCh37] Chr16:16q24.3	uncertain significance
NM_006086.4(TUBB3):c.1318G>T (p.Asp440Tyr)	single nucleotide variant	not provided [RCV004761234]		uncertain significance
NM_006086.4(TUBB3):c.74G>A (p.Ser25Asn)	single nucleotide variant	not provided [RCV004719479]	Chr16:89932587 [GRCh38] Chr16:89998995 [GRCh37] Chr16:16q24.3	likely pathogenic
NM_006086.4(TUBB3):c.1168C>T (p.Arg390Trp)	single nucleotide variant	TUBB3-related disorder [RCV004730045]	Chr16:89935619 [GRCh38] Chr16:90002027 [GRCh37] Chr16:16q24.3	uncertain significance

miRNA Target Status

Confirmed Target Of

miRNA Gene	Mature miRNA	Method Name	Result Type	Data Type	Support Type	PMID
MIR200C	hsa-miR-200c-3p	Mirtarbase	external_info	ELISA//Immunoblot//Immunocytochemistry//Luciferase	Functional MTI	19435871
MIR200C	hsa-miR-200c-3p	Mirtarbase	external_info	Western blot	Functional MTI	20049172
MIR200C	hsa-miR-200c-3p	OncomiRDB	external_info	NA	NA	23394580
MIR200C	hsa-miR-200c-3p	OncomiRDB	external_info	NA	NA	19435871

Predicted Target Of

	Summary Value
Count of predictions:	5091
Count of miRNA genes:	1016
Interacting mature miRNAs:	1251
Transcripts:	ENST00000304984, ENST00000315491, ENST00000553656, ENST00000553967, ENST00000554116, ENST00000554336, ENST00000554444, ENST00000554927, ENST00000555576, ENST00000555609, ENST00000555810, ENST00000556536, ENST00000556565, ENST00000556922, ENST00000557262, ENST00000557490
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
407297062	GWAS946038_H	self reported educational attainment QTL GWAS946038 (human)		6e-12	self reported educational attainment		16	89924435	89924436	Human
407277444	GWAS926420_H	hair color QTL GWAS926420 (human)		3e-103	hair color		16	89932386	89932387	Human
406980967	GWAS629943_H	white matter microstructure measurement QTL GWAS629943 (human)		9e-09	white matter microstructure measurement		16	89925134	89925135	Human
406942727	GWAS591703_H	melanocyte protein PMEL measurement QTL GWAS591703 (human)		3e-13	melanocyte protein PMEL measurement		16	89924435	89924436	Human
406967847	GWAS616823_H	brain connectivity measurement QTL GWAS616823 (human)		4e-15	brain connectivity measurement		16	89926205	89926206	Human
407311712	GWAS960688_H	neuroimaging measurement QTL GWAS960688 (human)		8e-23	neuroimaging measurement		16	89926205	89926206	Human
406968009	GWAS616985_H	brain connectivity measurement QTL GWAS616985 (human)		6e-44	brain connectivity measurement		16	89926205	89926206	Human
407262127	GWAS911103_H	basal cell carcinoma QTL GWAS911103 (human)		8e-60	basal cell carcinoma		16	89924435	89924436	Human
406982059	GWAS631035_H	brain measurement, neuroimaging measurement QTL GWAS631035 (human)		2e-15	brain measurement, neuroimaging measurement	brain measurement (CMO:0000911)	16	89926205	89926206	Human
407210472	GWAS859448_H	handedness QTL GWAS859448 (human)		5e-24	handedness		16	89925191	89925192	Human
407246507	GWAS895483_H	hair colour measurement QTL GWAS895483 (human)		5e-15	hair colour measurement	coat/hair color measurement (CMO:0001808)	16	89928611	89928612	Human
407197418	GWAS846394_H	hair colour measurement QTL GWAS846394 (human)		6e-20	hair colour measurement	coat/hair color measurement (CMO:0001808)	16	89928611	89928612	Human
407247958	GWAS896934_H	cortical thickness QTL GWAS896934 (human)		1e-17	cortical thickness		16	89926205	89926206	Human
407206069	GWAS855045_H	liver fibrosis measurement QTL GWAS855045 (human)		0.000007	liver integrity trait (VT:0010547)	liver fibrotic lesion measurement (CMO:0001088)	16	89935952	89935953	Human
407277171	GWAS926147_H	hair color QTL GWAS926147 (human)		4e-08	hair color		16	89928508	89928509	Human
406985109	GWAS634085_H	cortical surface area measurement, neuroimaging measurement QTL GWAS634085 (human)		6e-11	cerebral cortex morphology trait (VT:0000788)	tibia-fibula cortical bone total cross-sectional area (CMO:0001721)	16	89926205	89926206	Human
407268989	GWAS917965_H	brain measurement QTL GWAS917965 (human)		2e-27	brain measurement	brain measurement (CMO:0000911)	16	89926205	89926206	Human
407265757	GWAS914733_H	brain measurement QTL GWAS914733 (human)		6e-15	brain measurement	brain measurement (CMO:0000911)	16	89926205	89926206	Human
406981855	GWAS630831_H	white matter microstructure measurement QTL GWAS630831 (human)		1e-09	white matter microstructure measurement		16	89925134	89925135	Human
406967356	GWAS616332_H	brain connectivity measurement QTL GWAS616332 (human)		8e-11	brain connectivity measurement		16	89925487	89925488	Human
407294809	GWAS943785_H	brain measurement QTL GWAS943785 (human)		6e-12	brain measurement	brain measurement (CMO:0000911)	16	89925191	89925192	Human

Markers in Region

M73K

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	89,985,768 - 89,986,067	UniSTS	GRCh37
Build 36	16	88,513,269 - 88,513,568	RGD	NCBI36
Celera	16	75,050,858 - 75,051,157	RGD
HuRef	16	75,678,877 - 75,679,176	UniSTS

PMC156124P3

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	90,001,455 - 90,001,752	UniSTS	GRCh37
GRCh37	19	6,495,617 - 6,495,914	UniSTS	GRCh37
Build 36	16	88,528,956 - 88,529,253	RGD	NCBI36
Celera	16	75,066,545 - 75,066,842	RGD
Celera	19	6,435,437 - 6,435,734	UniSTS
HuRef	19	6,258,351 - 6,258,648	UniSTS
HuRef	16	75,694,472 - 75,694,769	UniSTS

RH65809

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	90,002,225 - 90,002,366	UniSTS	GRCh37
Build 36	16	88,529,726 - 88,529,867	RGD	NCBI36
Celera	16	75,067,315 - 75,067,456	RGD
Cytogenetic Map	16	q24.3	UniSTS
HuRef	16	75,695,242 - 75,695,383	UniSTS
GeneMap99-GB4 RH Map	16	501.46	UniSTS
NCBI RH Map	16	689.2	UniSTS

SHGC-60611

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	90,002,348 - 90,002,503	UniSTS	GRCh37
Build 36	16	88,529,849 - 88,530,004	RGD	NCBI36
Celera	16	75,067,438 - 75,067,593	RGD
Cytogenetic Map	16	q24.3	UniSTS
HuRef	16	75,695,365 - 75,695,520	UniSTS
GeneMap99-GB4 RH Map	16	503.63	UniSTS
Whitehead-RH Map	16	357.3	UniSTS
NCBI RH Map	16	689.2	UniSTS

RH65263

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	16	q24.3	UniSTS
Cytogenetic Map	18	p11.21	UniSTS
GeneMap99-GB4 RH Map	16	503.63	UniSTS
NCBI RH Map	16	689.2	UniSTS

GDB:312714

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	16	p13.3	UniSTS
Cytogenetic Map	5	q35.3	UniSTS
Cytogenetic Map	3	p25	UniSTS
Cytogenetic Map	12	q13.3	UniSTS
Cytogenetic Map	16	q24.3	UniSTS
Cytogenetic Map	16	p11.2	UniSTS
Cytogenetic Map	18	q21	UniSTS
Cytogenetic Map	6	p21.1	UniSTS
Cytogenetic Map	17	q23.2	UniSTS
Cytogenetic Map	22	q12.2	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2436	2786	2241	4973	1611	2231	6	513	1765	356	2269	6942	6269	52	3734	1	801	1736	1606	175	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_027810	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001197181	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_006086	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC092143	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF427491	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK058140	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK122757	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK127418	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK223039	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK292219	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK307201	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK314616	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AU142509	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC000748	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC001678	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC003021	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC047518	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC064975	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CD621827	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471184	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068262	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA054466	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	S62643	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U47634	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000315491 ⟹ ENSP00000320295

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	89,923,342 - 89,936,097 (+)	Ensembl

Ensembl Acc Id:

ENST00000553656 ⟹ ENSP00000452001

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	89,923,338 - 89,934,798 (+)	Ensembl

Ensembl Acc Id:

ENST00000553967 ⟹ ENSP00000450765

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	89,923,366 - 89,934,001 (+)	Ensembl

Ensembl Acc Id:

ENST00000554116

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	89,923,345 - 89,932,108 (+)	Ensembl

Ensembl Acc Id:

ENST00000554336 ⟹ ENSP00000450822

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	89,923,354 - 89,934,301 (+)	Ensembl

Ensembl Acc Id:

ENST00000554444 ⟹ ENSP00000451617

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	89,921,851 - 89,936,091 (+)	Ensembl

Ensembl Acc Id:

ENST00000554927

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	89,923,345 - 89,933,017 (+)	Ensembl

Ensembl Acc Id:

ENST00000555576 ⟹ ENSP00000452554

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	89,923,345 - 89,938,761 (+)	Ensembl

Ensembl Acc Id:

ENST00000555609 ⟹ ENSP00000451276

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	89,923,359 - 89,936,010 (+)	Ensembl

Ensembl Acc Id:

ENST00000555810 ⟹ ENSP00000450538

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	89,921,392 - 89,935,235 (+)	Ensembl

Ensembl Acc Id:

ENST00000556536 ⟹ ENSP00000451378

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	89,923,342 - 89,935,070 (+)	Ensembl

Ensembl Acc Id:

ENST00000556565 ⟹ ENSP00000452166

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	89,921,916 - 89,934,806 (+)	Ensembl

Ensembl Acc Id:

ENST00000557262 ⟹ ENSP00000451985

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	89,923,345 - 89,934,138 (+)	Ensembl

Ensembl Acc Id:

ENST00000557490 ⟹ ENSP00000451465

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	89,923,345 - 89,934,971 (+)	Ensembl

Ensembl Acc Id:

ENST00000625617 ⟹ ENSP00000485859

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	89,923,279 - 89,934,499 (+)	Ensembl

Ensembl Acc Id:

ENST00000680647

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	89,930,265 - 89,933,973 (+)	Ensembl

Ensembl Acc Id:

ENST00000680788

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	89,929,093 - 89,936,092 (+)	Ensembl

RefSeq Acc Id:

NM_001197181 ⟹ NP_001184110

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	89,921,925 - 89,936,097 (+)	NCBI
GRCh37	16	89,988,417 - 90,002,505 (+)	ENTREZGENE
HuRef	16	75,681,526 - 75,695,522 (+)	ENTREZGENE
CHM1_1	16	91,400,537 - 91,414,621 (+)	NCBI
T2T-CHM13v2.0	16	96,008,170 - 96,022,338 (+)	NCBI

Sequence:

show sequence

ACCAGACCCCTCTGAGGATGGAGCAGGAGCTGGCTGCCCTGAGGCTGCAAAACTTCTTCCCTCG
TGGAGACAGGGAGGCACCTCAGACACTCACCCCGGACTCCCTTGAACAGGGACAGGGAGGAACC
CCAGGCAGCTAGACCCCAGCAGCAGCCACACGAGCACACTGTGGGGCAGGGAGGGGCATCTCTT
GAGAACAAAAGATCCATTTCTCGACTTTCCAAACTGGAGAGCTTCTTGAGAGAAAAGAGAGAGA
CAGGTACAGGTCCACGCCACCCACACACAGCCCTGTGCACACAGACCGGACACAGGCGTCCACA
GTTCTGGGAAGTCATCAGTGATGAGCATGGCATCGACCCCAGCGGCAACTACGTGGGCGACTCG
GACTTGCAGCTGGAGCGGATCAGCGTCTACTACAACGAGGCCTCTTCTCACAAGTACGTGCCTC
GAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACA
TCTCTTCAGGCCTGACAATTTCATCTTTGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGT
CACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAA
ACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCAT
GGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGC
GTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCC
ACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTG
CTTCCGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACC
ATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGG
CCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGC
CCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCC
AAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCC
GGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAG
CTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGC
CTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCT
CCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCAT
GGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAG
TACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGG
CCCAGGGCCCCAAGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAG
CCAGCAGTGTCTAAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGG
GCTCCCTTGCCGCCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGC
TGCTCCTGTCTCTGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGT
TTGTGTTTATATTTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTT

hide sequence

RefSeq Acc Id:

NM_006086 ⟹ NP_006077

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	89,923,342 - 89,936,097 (+)	NCBI
GRCh37	16	89,988,417 - 90,002,505 (+)	ENTREZGENE
Build 36	16	88,517,246 - 88,530,006 (+)	NCBI Archive
HuRef	16	75,681,526 - 75,695,522 (+)	ENTREZGENE
CHM1_1	16	91,401,807 - 91,414,621 (+)	NCBI
T2T-CHM13v2.0	16	96,009,587 - 96,022,338 (+)	NCBI

Sequence:

show sequence

CTCAGCAGCCAGCCCGGCCCGCCCGCGCCCGTCCGCAGCCGCCCGCCAGACGCGCCCAGTATGA
GGGAGATCGTGCACATCCAGGCCGGCCAGTGCGGCAACCAGATCGGGGCCAAGTTCTGGGAAGT
CATCAGTGATGAGCATGGCATCGACCCCAGCGGCAACTACGTGGGCGACTCGGACTTGCAGCTG
GAGCGGATCAGCGTCTACTACAACGAGGCCTCTTCTCACAAGTACGTGCCTCGAGCCATTCTGG
TGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCC
TGACAATTTCATCTTTGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACGGAG
GGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCC
TGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGCACGGGCTCCGGCATGGGCACGTTGCT
CATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCA
CCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGG
AGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCT
CAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTC
ACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGG
TGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCA
GCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATG
GCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGCATGT
CCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGA
GTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCC
TCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCA
CGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGA
GTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCC
ACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCA
AGTGAAGCTGCTCGCAGCTGGAGTGAGAGGCAGGTGGCGGCCGGGGCCGAAGCCAGCAGTGTCT
AAACCCCCGGAGCCATCTTGCTGCCGACACCCTGCTTTCCCCTCGCCCTAGGGCTCCCTTGCCG
CCCTCCTGCAGTATTTATGGCCTCGTCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTC
TGTCTTATTGCAGCTCCAGGCCTGACGTTTTACGGTTTTGTTTTTTACTGGTTTGTGTTTATAT
TTTCGGGGATACTTAATAAATCTATTGCTGTCAGATACCCTT

hide sequence

Protein Sequences


Protein RefSeqs	NP_001184110	(Get FASTA)	NCBI Sequence Viewer
	NP_006077	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAC52035	(Get FASTA)	NCBI Sequence Viewer
	AAH00748	(Get FASTA)	NCBI Sequence Viewer
	AAH01678	(Get FASTA)	NCBI Sequence Viewer
	AAH03021	(Get FASTA)	NCBI Sequence Viewer
	AAH47518	(Get FASTA)	NCBI Sequence Viewer
	AAL28094	(Get FASTA)	NCBI Sequence Viewer
	BAD96759	(Get FASTA)	NCBI Sequence Viewer
	BAF84908	(Get FASTA)	NCBI Sequence Viewer
	BAG37182	(Get FASTA)	NCBI Sequence Viewer
	BAG53710	(Get FASTA)	NCBI Sequence Viewer
	EAW66669	(Get FASTA)	NCBI Sequence Viewer
	EAW66674	(Get FASTA)	NCBI Sequence Viewer
	EAW66675	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000320295
	ENSP00000320295.7
	ENSP00000450538.1
	ENSP00000450765.1
	ENSP00000450822.1
	ENSP00000451276.1
	ENSP00000451378.1
	ENSP00000451465.1
	ENSP00000451617
	ENSP00000451617.1
	ENSP00000451985.1
	ENSP00000452001.1
	ENSP00000452166.1
	ENSP00000452554.1
GenBank Protein	Q13509	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001184110 ⟸ NM_001197181
- Peptide Label:	isoform 2
- UniProtKB:	Q9BV28 (UniProtKB/TrEMBL)
- Sequence:	show sequence MDSVRSGAFGHLFRPDNFIFGQSGAGNNWAKGHYTEGAELVDSVLDVVRKECENCDCLQGFQLT HSLGGGTGSGMGTLLISKVREEYPDRIMNTFSVVPSPKVSDTVVEPYNATLSIHQLVENTDETY CIDNEALYDICFRTLKLATPTYGDLNHLVSATMSGVTTSLRFPGQLNADLRKLAVNMVPFPRLH FFMPGFAPLTARGSQQYRALTVPELTQQMFDAKNMMAACDPRHGRYLTVATVFRGRMSMKEVDE QMLAIQSKNSSYFVEWIPNNVKVAVCDIPPRGLKMSSTFIGNSTAIQELFKRISEQFTAMFRRK AFLHWYTGEGMDEMEFTEAESNMNDLVSEYQQYQDATAEEEGEMYEDDEEESEAQGPK hide sequence

RefSeq Acc Id:	NP_006077 ⟸ NM_006086
- Peptide Label:	isoform 1
- UniProtKB:	Q9BTZ0 (UniProtKB/Swiss-Prot), A8K854 (UniProtKB/Swiss-Prot), Q9BW10 (UniProtKB/Swiss-Prot), Q13509 (UniProtKB/Swiss-Prot), Q53G92 (UniProtKB/TrEMBL), B2RBD5 (UniProtKB/TrEMBL)
- Sequence:	show sequence MREIVHIQAGQCGNQIGAKFWEVISDEHGIDPSGNYVGDSDLQLERISVYYNEASSHKYVPRAI LVDLEPGTMDSVRSGAFGHLFRPDNFIFGQSGAGNNWAKGHYTEGAELVDSVLDVVRKECENCD CLQGFQLTHSLGGGTGSGMGTLLISKVREEYPDRIMNTFSVVPSPKVSDTVVEPYNATLSIHQL VENTDETYCIDNEALYDICFRTLKLATPTYGDLNHLVSATMSGVTTSLRFPGQLNADLRKLAVN MVPFPRLHFFMPGFAPLTARGSQQYRALTVPELTQQMFDAKNMMAACDPRHGRYLTVATVFRGR MSMKEVDEQMLAIQSKNSSYFVEWIPNNVKVAVCDIPPRGLKMSSTFIGNSTAIQELFKRISEQ FTAMFRRKAFLHWYTGEGMDEMEFTEAESNMNDLVSEYQQYQDATAEEEGEMYEDDEEESEAQG PK hide sequence

Ensembl Acc Id:

ENSP00000450538 ⟸ ENST00000555810

Ensembl Acc Id:

ENSP00000451276 ⟸ ENST00000555609

Ensembl Acc Id:

ENSP00000452554 ⟸ ENST00000555576

Ensembl Acc Id:

ENSP00000452166 ⟸ ENST00000556565

Ensembl Acc Id:

ENSP00000451378 ⟸ ENST00000556536

Ensembl Acc Id:

ENSP00000451985 ⟸ ENST00000557262

Ensembl Acc Id:

ENSP00000451465 ⟸ ENST00000557490

Ensembl Acc Id:

ENSP00000485859 ⟸ ENST00000625617

Ensembl Acc Id:

ENSP00000320295 ⟸ ENST00000315491

Ensembl Acc Id:

ENSP00000452001 ⟸ ENST00000553656

Ensembl Acc Id:

ENSP00000450765 ⟸ ENST00000553967

Ensembl Acc Id:

ENSP00000451617 ⟸ ENST00000554444

Ensembl Acc Id:

ENSP00000450822 ⟸ ENST00000554336

Protein Domains

Tubulin/FtsZ 2-layer sandwich Tubulin/FtsZ GTPase

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q13509-F1-model_v2	AlphaFold	Q13509	1-450	view protein structure

Promoters

RGD ID:

6793528

Promoter ID:

HG_KWN:24547

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

UC002FPF.2

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	16	88,511,921 - 88,512,767 (+)	MPROMDB

RGD ID:

6793529

Promoter ID:

HG_KWN:24548

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3, K562, NB4

Transcripts:

UC010CIZ.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	16	88,515,126 - 88,515,917 (+)	MPROMDB

RGD ID:

6793534

Promoter ID:

HG_KWN:24549

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell_12Hour, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

OTTHUMT00000272874, UC002FPG.1, UC002FPI.1, UC010CJA.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	16	88,516,416 - 88,517,352 (+)	MPROMDB

RGD ID:

6851294

Promoter ID:

EP73445

Type:

multiple initiation site

Name:

HS_TUBB4

Description:

Tubulin, beta, 4.

SO ACC ID:

SO:0000170

Source:

EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

NEDO full length human cDNA sequencing project.; Oligo-capping

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	16	88,517,254 - 88,517,314	EPD

RGD ID:

7233201

Promoter ID:

EPDNEW_H22345

Type:

multiple initiation site

Name:

TUBB3_1

Description:

tubulin beta 3 class III

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	89,923,345 - 89,923,405	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:20772	AgrOrtholog
COSMIC	TUBB3	COSMIC
Ensembl Genes	ENSG00000258947	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000315491	ENTREZGENE
	ENST00000315491.12	UniProtKB/Swiss-Prot
	ENST00000553656.5	UniProtKB/TrEMBL
	ENST00000553967.1	UniProtKB/TrEMBL
	ENST00000554336.5	UniProtKB/TrEMBL
	ENST00000554444	ENTREZGENE
	ENST00000554444.5	UniProtKB/Swiss-Prot
	ENST00000555576.5	UniProtKB/TrEMBL
	ENST00000555609.5	UniProtKB/TrEMBL
	ENST00000555810.5	UniProtKB/TrEMBL
	ENST00000556536.5	UniProtKB/TrEMBL
	ENST00000556565.5	UniProtKB/TrEMBL
	ENST00000557262.5	UniProtKB/TrEMBL
	ENST00000557490.5	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	ENSG00000258947	GTEx
HGNC ID	HGNC:20772	ENTREZGENE
Human Proteome Map	TUBB3	Human Proteome Map
InterPro	Beta-tubulin_BS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Beta_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:10381	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	10381	ENTREZGENE
OMIM	602661	OMIM
PANTHER	OS01G0282866 PROTEIN	UniProtKB/TrEMBL
	OS01G0282866 PROTEIN	UniProtKB/TrEMBL
	PTHR11588	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TUBULIN BETA-3 CHAIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Tubulin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Tubulin_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA134953867	PharmGKB
PRINTS	BETATUBULIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TUBULIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	TUBULIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TUBULIN_B_AUTOREG	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	A8K854	ENTREZGENE
	B2RBD5	ENTREZGENE, UniProtKB/TrEMBL
	G3V2A3_HUMAN	UniProtKB/TrEMBL
	G3V2N6_HUMAN	UniProtKB/TrEMBL
	G3V2R8_HUMAN	UniProtKB/TrEMBL
	G3V3J6_HUMAN	UniProtKB/TrEMBL
	G3V3R4_HUMAN	UniProtKB/TrEMBL
	G3V3W7_HUMAN	UniProtKB/TrEMBL
	G3V4U2_HUMAN	UniProtKB/TrEMBL
	G3V542_HUMAN	UniProtKB/TrEMBL
	G3V5W4_HUMAN	UniProtKB/TrEMBL
	Q13509	ENTREZGENE
	Q3ZCR3_HUMAN	UniProtKB/TrEMBL
	Q53G92	ENTREZGENE, UniProtKB/TrEMBL
	Q9BTZ0	ENTREZGENE
	Q9BV28	ENTREZGENE, UniProtKB/TrEMBL
	Q9BW10	ENTREZGENE
	TBB3_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	A8K854	UniProtKB/Swiss-Prot
	Q9BTZ0	UniProtKB/Swiss-Prot
	Q9BW10	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-04-05	TUBB3	tubulin beta 3 class III	FEOM3	fibrosis of extraocular muscles, congenital, 3	Data merged from RGD:1345858	737654	PROVISIONAL
2015-12-22	TUBB3	tubulin beta 3 class III		tubulin, beta 3 class III	Symbol and/or name change	5135510	APPROVED
2011-10-18	TUBB3	tubulin, beta 3 class III	TUBB3	tubulin, beta 3	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar