GLI2 (GLI family zinc finger 2) - Rat Genome Database

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Gene: GLI2 (GLI family zinc finger 2) Homo sapiens
Analyze
Symbol: GLI2
Name: GLI family zinc finger 2
RGD ID: 1606840
HGNC Page HGNC:4318
Description: Enables several functions, including DNA-binding transcription factor activity; promoter-specific chromatin binding activity; and zinc ion binding activity. Involved in several processes, including cellular response to virus; hair follicle morphogenesis; and regulation of transcription by RNA polymerase II. Located in nucleolus and nucleoplasm. Implicated in Culler-Jones syndrome; holoprosencephaly 9; and spina bifida. Biomarker of biliary atresia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CJS; GLI family zinc finger protein 2; GLI-Kruppel family member GLI2; glioma-associated oncogene family zinc finger 2; HPE9; oncogene GLI2; PHS2; tax helper protein 1; tax helper protein 2; tax-responsive element-2 holding protein; tax-responsive element-25-bp sequence binding protein; THP1; THP2; zinc finger protein GLI2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382120,735,868 - 120,992,653 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2120,735,623 - 120,992,653 (+)EnsemblGRCh38hg38GRCh38
GRCh372121,493,444 - 121,750,229 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362121,266,327 - 121,466,321 (+)NCBINCBI36Build 36hg18NCBI36
Celera2114,879,848 - 115,075,199 (+)NCBICelera
Cytogenetic Map2q14.2NCBI
HuRef2113,876,969 - 114,072,693 (+)NCBIHuRef
CHM1_12121,559,011 - 121,754,271 (+)NCBICHM1_1
T2T-CHM13v2.02121,171,586 - 121,428,571 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dichloroethane  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-D  (ISO)
3,3',4,4'-tetrachlorobiphenyl  (EXP)
4-hydroperoxycyclophosphamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
Ac-Ser-Asp-Lys-Pro-OH  (EXP,ISO)
acetaldehyde  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (EXP)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenous acid  (EXP,ISO)
aspartame  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
captopril  (EXP,ISO)
carbamazepine  (ISO)
CGP 52608  (EXP)
chromium(6+)  (ISO)
cisplatin  (EXP,ISO)
cocaine  (ISO)
colforsin daropate hydrochloride  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
crotonaldehyde  (EXP)
curcumin  (ISO)
Cyclopamine  (ISO)
cyproconazole  (ISO)
D-glucose  (EXP,ISO)
dexamethasone  (EXP)
diarsenic trioxide  (EXP,ISO)
dibutyl phthalate  (ISO)
diethyl malate  (ISO)
disodium selenite  (ISO)
dorsomorphin  (EXP)
elemental selenium  (EXP)
embelin  (EXP,ISO)
endosulfan  (ISO)
ethanol  (ISO)
flusilazole  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
fructose  (ISO)
furan  (ISO)
gallic acid  (EXP)
gemcitabine  (EXP)
gentamycin  (ISO)
glucose  (EXP,ISO)
goralatide  (EXP,ISO)
lipopolysaccharide  (ISO)
LY294002  (EXP)
methapyrilene  (EXP)
methimazole  (ISO)
methoxychlor  (ISO)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP)
nitrofen  (ISO)
Nor-9-carboxy-delta9-THC  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
PCB138  (ISO)
potassium chromate  (EXP)
potassium dichromate  (ISO)
progesterone  (ISO)
quercetin  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (EXP,ISO)
silver atom  (EXP,ISO)
silver(0)  (EXP,ISO)
sodium arsenite  (ISO)
Soman  (ISO)
sonidegib  (EXP,ISO)
sunitinib  (EXP)
temozolomide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vismodegib  (EXP,ISO)
vitamin E  (EXP)
zinc oxide  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
anatomical structure formation involved in morphogenesis  (IEA,ISO)
anterior/posterior pattern specification  (IEA,ISO)
axon guidance  (IEA,ISO,ISS)
branching morphogenesis of an epithelial tube  (IEA,ISO,ISS)
cell differentiation  (IEA,ISO)
cell population proliferation  (IEA,ISO)
cellular response to organic cyclic compound  (IEA,ISO)
cellular response to virus  (IDA)
cerebellar cortex morphogenesis  (IEA,ISO,ISS)
chondrocyte differentiation  (IEA,ISO)
cochlea morphogenesis  (IEA,ISO)
developmental growth  (IEA,ISO,ISS)
dorsal/ventral neural tube patterning  (IEA,ISO)
dorsal/ventral pattern formation  (IEA,ISO)
embryonic digestive tract development  (IEA,ISO,ISS)
embryonic digit morphogenesis  (IEA,ISO)
epidermal cell differentiation  (IDA)
epithelial cell proliferation  (IEA,ISO)
floor plate formation  (IEA,ISO,ISS)
gene expression  (IEA,ISO)
hair follicle morphogenesis  (IMP)
head development  (IEA,ISO)
heart development  (IEA,ISO,ISS)
hindbrain development  (IEA,ISO,ISS)
hindgut morphogenesis  (IEA,ISO,ISS)
in utero embryonic development  (IEA,ISO)
kidney development  (IEA,ISO,ISS)
lung development  (IEA,ISO,ISS)
mammary gland development  (IEA,ISO,ISS)
mammary gland duct morphogenesis  (IEA,ISO)
morphogenesis of an epithelium  (IEA,ISO)
negative regulation of apoptotic process  (IEA,ISO)
negative regulation of chondrocyte differentiation  (IEA,ISO)
negative regulation of smoothened signaling pathway  (IEA,ISO)
negative regulation of transcription by RNA polymerase II  (IDA,IEA,IMP,ISO)
neural tube development  (IEA,ISO)
neuron development  (IEA,ISO,ISS)
neuron differentiation  (IEA,ISO)
notochord regression  (IEA,ISO)
odontogenesis of dentin-containing tooth  (IEA,ISO,ISS)
osteoblast development  (IEA,ISO,ISS)
osteoblast differentiation  (IDA,IEA,ISO)
pattern specification process  (IEA,ISO,ISS)
pituitary gland development  (IEA,ISO,ISS)
positive regulation of cell population proliferation  (IEA,ISO)
positive regulation of collagen biosynthetic process  (ISO)
positive regulation of DNA replication  (IDA)
positive regulation of DNA-templated transcription  (IDA,IEA,ISO)
positive regulation of epithelial cell proliferation  (IEA,ISO)
positive regulation of neuron differentiation  (IEA,ISO)
positive regulation of stem cell proliferation  (IEA,ISO)
positive regulation of T cell differentiation in thymus  (ISS)
positive regulation of transcription by RNA polymerase II  (IDA,IEA,ISO)
prostate gland development  (ISO)
prostatic bud formation  (IEA,ISO)
proximal/distal pattern formation  (IEA,ISO,ISS)
regulation of DNA-templated transcription  (ISS)
regulation of smoothened signaling pathway  (IEA,ISO)
regulation of transcription by RNA polymerase II  (IBA,IEA)
response to mechanical stimulus  (ISO)
skeletal system development  (IEA,ISO,ISS)
smoothened signaling pathway  (IBA,IDA,IEA,ISO)
smoothened signaling pathway involved in dorsal/ventral neural tube patterning  (IEA,ISO)
smoothened signaling pathway involved in spinal cord motor neuron cell fate specification  (IEA,ISO)
smoothened signaling pathway involved in ventral spinal cord interneuron specification  (IEA,ISO,ISS)
spinal cord dorsal/ventral patterning  (IEA,ISO,ISS)
spinal cord motor neuron differentiation  (IEA,ISO)
spinal cord ventral commissure morphogenesis  (IEA,ISO,ISS)
stem cell proliferation  (IEA,ISO)
tube development  (IEA,ISO,ISS)
ventral midline development  (IEA,ISO,ISS)
ventral spinal cord development  (IEA,ISO,ISS)

Cellular Component
axoneme  (IEA)
ciliary base  (TAS)
ciliary tip  (IEA,TAS)
cilium  (IEA,ISS)
cytoplasm  (IEA)
cytosol  (TAS)
GLI-SUFU complex  (ISS)
membrane  (IEA)
motile cilium  (IEA)
nuclear speck  (IEA)
nucleolus  (IDA)
nucleoplasm  (IDA,TAS)
nucleus  (IBA,IDA,IEA)

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

Human Phenotype
Abnormal brainstem morphology  (IAGP)
Abnormal cardiovascular system morphology  (IAGP)
Abnormal central motor function  (IAGP)
Abnormal corpus callosum morphology  (IAGP)
Abnormal cortical gyration  (IAGP)
Abnormal digit morphology  (IAGP)
Abnormal gastrointestinal tract morphology  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal heart rate variability  (IAGP)
Abnormal hypothalamus physiology  (IAGP)
Abnormal midbrain morphology  (IAGP)
Abnormal morphology of the olfactory bulb  (IAGP)
Abnormal pattern of respiration  (IAGP)
Abnormal prolactin level  (IAGP)
Abnormal rib morphology  (IAGP)
Abnormal septum pellucidum morphology  (IAGP)
Abnormal vertebral morphology  (IAGP)
Abnormality of limbs  (IAGP)
Abnormality of secondary sexual hair  (IAGP)
Abnormality of the autonomic nervous system  (IAGP)
Abnormality of the endocrine system  (IAGP)
Abnormality of the eye  (IAGP)
Abnormality of the genitourinary system  (IAGP)
Abnormality of the skeletal system  (IAGP)
Absence of secondary sex characteristics  (IAGP)
Absent lacrimal punctum  (IAGP)
Absent septum pellucidum  (IAGP)
Absent speech  (IAGP)
Agenesis of corpus callosum  (IAGP)
Agenesis of incisor  (IAGP)
Alobar holoprosencephaly  (IAGP)
Ambiguous genitalia  (IAGP)
Amenorrhea  (IAGP)
Anophthalmia  (IAGP)
Anterior hypopituitarism  (IAGP)
Anterior pituitary agenesis  (IAGP)
Anterior pituitary hypoplasia  (IAGP)
Anteriorly placed anus  (IAGP)
Anteverted nares  (IAGP)
Anxiety  (IAGP)
Apathy  (IAGP)
Aplasia of the falx cerebri  (IAGP)
Aplasia/Hypoplasia of the breasts  (IAGP)
Arrhinencephaly  (IAGP)
Aspiration pneumonia  (IAGP)
Asthma  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Atypical behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bifid uvula  (IAGP)
Bilateral cleft lip  (IAGP)
Bilateral cleft palate  (IAGP)
Broad nasal tip  (IAGP)
Central apnea  (IAGP)
Central diabetes insipidus  (IAGP)
Central hypothyroidism  (IAGP)
Cerebellar cyst  (IAGP)
Cerebral arteriovenous malformation  (IAGP)
Cerebral visual impairment  (IAGP)
Choanal atresia  (IAGP)
Chronic lung disease  (IAGP)
Cleft palate  (IAGP)
Cleft upper lip  (IAGP)
Coarctation of aorta  (IAGP)
Congenital onset  (IAGP)
Constipation  (IAGP)
Craniosynostosis  (IAGP)
Cryptorchidism  (IAGP)
Cyclopia  (IAGP)
Decreased cervical spine mobility  (IAGP)
Decreased circulating ACTH concentration  (IAGP)
Decreased response to growth hormone stimulation test  (IAGP)
Decreased testicular size  (IAGP)
Delayed puberty  (IAGP)
Delayed skeletal maturation  (IAGP)
Dental malocclusion  (IAGP)
Depressed nasal bridge  (IAGP)
Depressed nasal ridge  (IAGP)
Depression  (IAGP)
Diabetes insipidus  (IAGP)
Downturned corners of mouth  (IAGP)
Duodenal atresia  (IAGP)
Dysphagia  (IAGP)
Ectopic anterior pituitary gland  (IAGP)
Ectopic posterior pituitary  (IAGP)
EMG: myopathic abnormalities  (IAGP)
Epicanthus  (IAGP)
Expressive language delay  (IAGP)
Facial asymmetry  (IAGP)
Failure to thrive  (IAGP)
Fatigue  (IAGP)
Feeding difficulties  (IAGP)
Flexion contracture  (IAGP)
Frontoethmoidal encephalocele  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastrostomy tube feeding in infancy  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hemangioma  (IAGP)
High palate  (IAGP)
Hip dislocation  (IAGP)
Holoprosencephaly  (IAGP)
Hydrocephalus  (IAGP)
Hyperactivity  (IAGP)
Hypertelorism  (IAGP)
Hypoglycemia  (IAGP)
Hypogonadism  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypopituitarism  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Hypoplasia of the pons  (IAGP)
Hypoplasia of the premaxilla  (IAGP)
Hypotelorism  (IAGP)
Hypotension  (IAGP)
Hypothyroidism  (IAGP)
Impulsivity  (IAGP)
Inability to walk  (IAGP)
Infantile axial hypotonia  (IAGP)
Infantile muscular hypotonia  (IAGP)
Infertility  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, severe  (IAGP)
Intrauterine growth retardation  (IAGP)
Iris coloboma  (IAGP)
Irritability  (IAGP)
Lateral ventricular asymmetry  (IAGP)
Lethargy  (IAGP)
Limb dystonia  (IAGP)
Macrocephaly  (IAGP)
Macrotia  (IAGP)
Malar flattening  (IAGP)
Maternal diabetes  (IAGP)
Median cleft palate  (IAGP)
Median cleft upper lip  (IAGP)
Megalencephaly  (IAGP)
Microcephaly  (IAGP)
Micropenis  (IAGP)
Microphthalmia  (IAGP)
Midface retrusion  (IAGP)
Midnasal stenosis  (IAGP)
Narrow nasal bridge  (IAGP)
Neural tube defect  (IAGP)
Occipital meningocele  (IAGP)
Optic nerve hypoplasia  (IAGP)
Orofacial cleft  (IAGP)
Oromotor apraxia  (IAGP)
Osteopenia  (IAGP)
Osteoporosis of vertebrae  (IAGP)
Panhypopituitarism  (IAGP)
Partial agenesis of the corpus callosum  (IAGP)
Perisylvian polymicrogyria  (IAGP)
Pituitary dwarfism  (IAGP)
Pituitary hypothyroidism  (IAGP)
Polydactyly  (IAGP)
Poor speech  (IAGP)
Poor suck  (IAGP)
Postaxial hand polydactyly  (IAGP)
Postaxial polydactyly  (IAGP)
Posteriorly rotated ears  (IAGP)
Preauricular skin tag  (IAGP)
Precocious puberty  (IAGP)
Premature birth  (IAGP)
Proboscis  (IAGP)
Prominent antihelix  (IAGP)
Prominent forehead  (IAGP)
Ptosis  (IAGP)
Renal agenesis  (IAGP)
Rhombencephalosynapsis  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Septo-optic dysplasia  (IAGP)
Severe global developmental delay  (IAGP)
Short attention span  (IAGP)
Short hard palate  (IAGP)
Short neck  (IAGP)
Short nose  (IAGP)
Short philtrum  (IAGP)
Short stature  (IAGP)
Single naris  (IAGP)
Sleep-wake cycle disturbance  (IAGP)
Solitary median maxillary central incisor  (IAGP)
Spasticity  (IAGP)
Specific learning disability  (IAGP)
Sporadic  (IAGP)
Strabismus  (IAGP)
Temperature instability  (IAGP)
Tented upper lip vermilion  (IAGP)
Tetralogy of Fallot  (IAGP)
Thick lower lip vermilion  (IAGP)
Thin corpus callosum  (IAGP)
Typified by incomplete penetrance  (IAGP)
Underdeveloped tragus  (IAGP)
Variable expressivity  (IAGP)
Vomiting  (IAGP)
Wide anterior fontanel  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Hedgehog signaling update. Cohen MM, Am J Med Genet A. 2010 Aug;152A(8):1875-914. doi: 10.1002/ajmg.a.32909.
2. Sonic hedgehog (SHH) and glioblastoma-2 (Gli-2) expressions are associated with poor jaundice-free survival in biliary atresia. Jung HY, etal., J Pediatr Surg. 2015 Mar;50(3):371-6. doi: 10.1016/j.jpedsurg.2014.08.025. Epub 2014 Dec 20.
3. Murine models of VACTERL syndrome: Role of sonic hedgehog signaling pathway. Kim PC, etal., J Pediatr Surg. 2001 Feb;36(2):381-4. doi: 10.1053/jpsu.2001.20722.
4. Genetic research and structural dysplasia assessment of anorectal malformations in neonatal male rats induced by di(n-butyl) phthalate. Liu ZH, etal., Environ Toxicol. 2016 Mar;31(3):261-8. doi: 10.1002/tox.22040. Epub 2014 Sep 12.
5. Sonic Hedgehog Signaling Affected by Promoter Hypermethylation Induces Aberrant Gli2 Expression in Spina Bifida. Lu XL, etal., Mol Neurobiol. 2016 Oct;53(8):5413-24. doi: 10.1007/s12035-015-9447-0. Epub 2015 Oct 7.
6. Frequent deregulations in the hedgehog signaling network and cross-talks with the epidermal growth factor receptor pathway involved in cancer progression and targeted therapies. Mimeault M and Batra SK, Pharmacol Rev. 2010 Sep;62(3):497-524.
7. Anorectal malformations caused by defects in sonic hedgehog signaling. Mo R, etal., Am J Pathol. 2001 Aug;159(2):765-74.
8. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
9. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
10. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
11. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
12. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
13. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
14. Defective sonic hedgehog signaling in esophageal atresia with tracheoesophageal fistula. Spilde TL, etal., Surgery. 2003 Aug;134(2):345-50.
15. Down-regulation of SHH/BMP4 signalling in human anorectal malformations. Zhang J, etal., J Int Med Res. 2009 Nov-Dec;37(6):1842-50.
Additional References at PubMed
PMID:2832761   PMID:2850480   PMID:8150204   PMID:8350401   PMID:8378770   PMID:8812445   PMID:9557682   PMID:9731531   PMID:10074179   PMID:10564661   PMID:10806483   PMID:11160734  
PMID:11238441   PMID:12068298   PMID:12165851   PMID:12435627   PMID:12477932   PMID:12917489   PMID:14581620   PMID:14691458   PMID:15175043   PMID:15994174   PMID:16192985   PMID:16327884  
PMID:16434164   PMID:16553965   PMID:16651270   PMID:16953426   PMID:17569090   PMID:17638910   PMID:18006803   PMID:18264131   PMID:18319260   PMID:18794086   PMID:19015636   PMID:19274049  
PMID:19432668   PMID:19453261   PMID:19584075   PMID:19593328   PMID:19937600   PMID:19996099   PMID:20081843   PMID:20099029   PMID:20201926   PMID:20301702   PMID:20379614   PMID:20420697  
PMID:20487506   PMID:20488474   PMID:20634891   PMID:20660365   PMID:20685856   PMID:20712011   PMID:20932654   PMID:20939080   PMID:21095584   PMID:21204792   PMID:21454528   PMID:21695716  
PMID:21801332   PMID:21862631   PMID:21873635   PMID:22040957   PMID:22395235   PMID:22496449   PMID:22535603   PMID:22747683   PMID:22859956   PMID:22925276   PMID:22967285   PMID:23178452  
PMID:23208494   PMID:23304807   PMID:23326517   PMID:23356443   PMID:23371028   PMID:23408573   PMID:23442119   PMID:23493353   PMID:23762415   PMID:23792444   PMID:23890107   PMID:24058673  
PMID:24418624   PMID:24423612   PMID:24481442   PMID:24744436   PMID:25082385   PMID:25085524   PMID:25132524   PMID:25156120   PMID:25204354   PMID:25359619   PMID:25429064   PMID:25449781  
PMID:25512258   PMID:25535898   PMID:25670079   PMID:25694126   PMID:25715918   PMID:25745035   PMID:25807524   PMID:25820550   PMID:25878059   PMID:25888497   PMID:25889765   PMID:25964059  
PMID:25974718   PMID:26120032   PMID:26182949   PMID:26238143   PMID:26261006   PMID:26282181   PMID:26290144   PMID:26459048   PMID:26565916   PMID:26588701   PMID:26762562   PMID:26769961  
PMID:26896768   PMID:26936993   PMID:26972000   PMID:27036048   PMID:27346851   PMID:27379371   PMID:27460090   PMID:27476557   PMID:27477274   PMID:27543868   PMID:27576279   PMID:27621083  
PMID:27738315   PMID:27760825   PMID:27793025   PMID:27793816   PMID:27887846   PMID:28032859   PMID:28057877   PMID:28300597   PMID:28342001   PMID:28370639   PMID:28393219   PMID:28393230  
PMID:28461568   PMID:28473536   PMID:28611215   PMID:28667171   PMID:28695772   PMID:28805822   PMID:28817564   PMID:28847472   PMID:28877478   PMID:28975979   PMID:29180619   PMID:29429990  
PMID:29507755   PMID:29615150   PMID:29682088   PMID:29876959   PMID:29891662   PMID:29967343   PMID:30241937   PMID:30305138   PMID:30382189   PMID:30409762   PMID:30513511   PMID:30548673  
PMID:30554998   PMID:30583238   PMID:30629636   PMID:30695055   PMID:30793770   PMID:30802137   PMID:31092427   PMID:31134896   PMID:31208857   PMID:31279575   PMID:31558698   PMID:31576013  
PMID:31697978   PMID:31782289   PMID:31896750   PMID:31963474   PMID:32108992   PMID:32319599   PMID:32319607   PMID:32460013   PMID:32588323   PMID:32766732   PMID:32879407   PMID:33157157  
PMID:33313950   PMID:33348053   PMID:33381902   PMID:33615977   PMID:33650666   PMID:33895473   PMID:33961781   PMID:34117865   PMID:34267186   PMID:34275739   PMID:34349018   PMID:34368867  
PMID:34546340   PMID:34657624   PMID:34990616   PMID:35044719   PMID:35140242   PMID:35251038   PMID:36581088   PMID:36598638   PMID:36889770   PMID:37417427   PMID:37523816   PMID:37689310  
PMID:37830570   PMID:37948564   PMID:38159250   PMID:38385859   PMID:38453045   PMID:38509065   PMID:38896052   PMID:38968120  


Genomics

Comparative Map Data
GLI2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382120,735,868 - 120,992,653 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2120,735,623 - 120,992,653 (+)EnsemblGRCh38hg38GRCh38
GRCh372121,493,444 - 121,750,229 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362121,266,327 - 121,466,321 (+)NCBINCBI36Build 36hg18NCBI36
Celera2114,879,848 - 115,075,199 (+)NCBICelera
Cytogenetic Map2q14.2NCBI
HuRef2113,876,969 - 114,072,693 (+)NCBIHuRef
CHM1_12121,559,011 - 121,754,271 (+)NCBICHM1_1
T2T-CHM13v2.02121,171,586 - 121,428,571 (+)NCBIT2T-CHM13v2.0
Gli2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391118,761,791 - 118,987,578 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1118,761,862 - 118,981,349 (-)EnsemblGRCm39 Ensembl
GRCm381118,834,061 - 119,054,405 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1118,834,132 - 119,053,619 (-)EnsemblGRCm38mm10GRCm38
MGSCv371120,730,638 - 120,950,196 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361120,661,607 - 120,881,165 (-)NCBIMGSCv36mm8
Celera1121,494,112 - 121,713,823 (-)NCBICelera
Cytogenetic Map1E2.3NCBI
cM Map152.17NCBI
Gli2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81332,499,678 - 32,716,418 (-)NCBIGRCr8
mRatBN7.21329,946,882 - 30,163,589 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1329,946,809 - 30,163,574 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1332,529,564 - 32,585,620 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01333,817,400 - 33,873,458 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01331,093,715 - 31,149,850 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01334,829,021 - 35,049,172 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1334,829,139 - 35,048,444 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01339,955,094 - 40,170,750 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41331,551,089 - 31,607,264 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11331,555,563 - 31,574,381 (-)NCBI
Celera1329,844,054 - 29,900,050 (-)NCBICelera
Cytogenetic Map13q11NCBI
Gli2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554598,892,869 - 9,118,499 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554598,892,917 - 9,124,672 (-)NCBIChiLan1.0ChiLan1.0
GLI2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21322,735,243 - 22,992,365 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B22,750,199 - 23,007,333 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B7,665,403 - 7,922,840 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B121,242,932 - 121,499,411 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B121,303,831 - 121,497,442 (+)Ensemblpanpan1.1panPan2
GLI2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11929,128,401 - 29,383,324 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1929,130,227 - 29,383,658 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1929,385,203 - 29,640,495 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01930,500,404 - 30,754,986 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1930,501,230 - 30,755,556 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11929,191,227 - 29,444,875 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01929,361,839 - 29,547,733 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01930,542,746 - 30,798,466 (-)NCBIUU_Cfam_GSD_1.0
Gli2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530391,769,648 - 92,002,404 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493646949,617,095 - 49,673,213 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493646949,616,552 - 49,788,760 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GLI2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1530,313,817 - 30,579,306 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11530,312,528 - 30,580,272 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21535,267,097 - 35,303,278 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GLI2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1109,302,890 - 9,561,287 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl109,304,645 - 9,369,115 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606113,127,973 - 13,388,785 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gli2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473224,159,312 - 24,328,452 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473224,159,407 - 24,381,495 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GLI2
849 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001374353.1(GLI2):c.1496G>A (p.Arg499His) single nucleotide variant not provided [RCV000521980] Chr2:120982744 [GRCh38]
Chr2:121740320 [GRCh37]
Chr2:2q14.2		 uncertain significance
NM_001374353.1(GLI2):c.3124_3125delinsCT (p.Asp1042Leu) indel not provided [RCV000520715] Chr2:120989089..120989090 [GRCh38]
Chr2:121746665..121746666 [GRCh37]
Chr2:2q14.2		 uncertain significance
NM_001374353.1(GLI2):c.2243-6C>A single nucleotide variant not specified [RCV000522937] Chr2:120988202 [GRCh38]
Chr2:121745778 [GRCh37]
Chr2:2q14.2		 likely benign
NM_001374353.1(GLI2):c.4612T>C (p.Ser1538Pro) single nucleotide variant Holoprosencephaly 9 [RCV000030728]|Holoprosencephaly 9 [RCV000871994]|not provided [RCV001698948]|not specified [RCV000174544] Chr2:120990577 [GRCh38]
Chr2:121748153 [GRCh37]
Chr2:2q14.2		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_001374353.1(GLI2):c.1834G>A (p.Glu612Lys) single nucleotide variant Holoprosencephaly 9 [RCV000030730]|Holoprosencephaly 9 [RCV002513275] Chr2:120984672 [GRCh38]
Chr2:121742248 [GRCh37]
Chr2:2q14.2		 pathogenic|uncertain significance
NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn) single nucleotide variant Holoprosencephaly 9 [RCV000030731]|Holoprosencephaly 9 [RCV000548311]|Partial androgen insensitivity syndrome [RCV003993753]|not provided [RCV001541226]|not specified [RCV000174553] Chr2:120990472 [GRCh38]
Chr2:121748048 [GRCh37]
Chr2:2q14.2		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
GLI2, 1-BP DEL, NT2274 deletion Holoprosencephaly 9 [RCV000014846] Chr2:2q14 pathogenic
NM_001374353.1(GLI2):c.1272G>A (p.Trp424Ter) single nucleotide variant Holoprosencephaly 9 [RCV000014847] Chr2:120975064 [GRCh38]
Chr2:121732640 [GRCh37]
Chr2:2q14.2		 pathogenic
NM_001374353.1(GLI2):c.1384C>G (p.Arg462Gly) single nucleotide variant Holoprosencephaly 9 [RCV000014848] Chr2:120978500 [GRCh38]
Chr2:121736076 [GRCh37]
Chr2:2q14.2		 pathogenic
NM_001374353.1(GLI2):c.900del (p.Ser301fs) deletion Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome [RCV001526497] Chr2:120970447 [GRCh38]
Chr2:121728023 [GRCh37]
Chr2:2q14.2		 likely pathogenic
NM_001374353.1(GLI2):c.451G>A (p.Ala151Thr) single nucleotide variant Holoprosencephaly 9 [RCV003768175]|not provided [RCV000727927] Chr2:120951439 [GRCh38]
Chr2:121709015 [GRCh37]
Chr2:2q14.2		 uncertain significance
NM_001374353.1(GLI2):c.314C>T (p.Pro105Leu) single nucleotide variant Inborn genetic diseases [RCV004619402]|not provided [RCV000729541] Chr2:120951302 [GRCh38]
Chr2:121708878 [GRCh37]
Chr2:2q14.2		 uncertain significance
NM_001374353.1(GLI2):c.2132G>A (p.Arg711Gln) single nucleotide variant not provided [RCV000519591] Chr2:120986504 [GRCh38]
Chr2:121744080 [GRCh37]
Chr2:2q14.2		 uncertain significance
NM_001374353.1(GLI2):c.864_865del (p.His289fs) deletion Holoprosencephaly 9 [RCV000030729] Chr2:120970408..120970409 [GRCh38]
Chr2:121727984..121727985 [GRCh37]
Chr2:2q14.2		 pathogenic
NM_005270.4(GLI2):c.149-26082G>A single nucleotide variant Lung cancer [RCV000091247] Chr2:120901279 [GRCh38]
Chr2:121658855 [GRCh37]
Chr2:2q14.2		 uncertain significance
GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1 copy number loss See cases [RCV000054058] Chr2:118086324..134964738 [GRCh38]
Chr2:118843900..135722308 [GRCh37]
Chr2:118560370..135438778 [NCBI36]
Chr2:2q14.1-21.3		 pathogenic
NM_005270.4(GLI2):c.1269G>A (p.Arg423=) single nucleotide variant Malignant melanoma [RCV000065042] Chr2:120975010 [GRCh38]
Chr2:121732586 [GRCh37]
Chr2:121449056 [NCBI36]
Chr2:2q14.2		 not provided
NM_005270.4(GLI2):c.1627G>A (p.Ala543Thr) single nucleotide variant Malignant melanoma [RCV000065043] Chr2:120982824 [GRCh38]
Chr2:121740400 [GRCh37]
Chr2:121456870 [NCBI36]
Chr2:2q14.2		 not provided
NM_005270.4(GLI2):c.4319C>T (p.Pro1440Leu) single nucleotide variant Malignant melanoma [RCV000065044] Chr2:120990233 [GRCh38]
Chr2:121747809 [GRCh37]
Chr2:121464279 [NCBI36]
Chr2:2q14.2		 not provided
NM_001374353.1(GLI2):c.3298G>T (p.Val1100Leu) single nucleotide variant Holoprosencephaly 9 [RCV000327704]|Holoprosencephaly 9 [RCV002055194]|not provided [RCV000514612]|not specified [RCV000081283] Chr2:120989263 [GRCh38]
Chr2:121746839 [GRCh37]
Chr2:2q14.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001374353.1(GLI2):c.3415G>T (p.Ala1139Ser) single nucleotide variant Holoprosencephaly 9 [RCV000273393]|Holoprosencephaly 9 [RCV002055195]|Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome [RCV001701658]|not provided [RCV001650921]|not specified [RCV000081284] Chr2:120989380 [GRCh38]
Chr2:121746956 [GRCh37]
Chr2:2q14.2		 benign
NM_001374353.1(GLI2):c.3865G>A (p.Asp1289Asn) single nucleotide variant Holoprosencephaly 9 [RCV000340352]|Holoprosencephaly 9 [RCV002055196]|Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome [RCV001701659]|not provided [RCV001705753]|not specified [RCV000081285] Chr2:120989830 [GRCh38]
Chr2:121747406 [GRCh37]
Chr2:2q14.2		 benign
NM_001374353.1(GLI2):c.3888A>G (p.Pro1296=) single nucleotide variant Holoprosencephaly 9 [RCV000287111]|Holoprosencephaly 9 [RCV002055197]|Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome [RCV001701738]|not provided [RCV001705754]|not specified [RCV000081286] Chr2:120989853 [GRCh38]
Chr2:121747429 [GRCh37]
Chr2:2q14.2		 benign
NM_001374353.1(GLI2):c.3892C>T (p.Pro1298Ser) single nucleotide variant Holoprosencephaly 9 [RCV000341975]|Holoprosencephaly 9 [RCV000534335]|not provided [RCV001705755]|not specified [RCV000081287] Chr2:120989857 [GRCh38]
Chr2:121747433 [GRCh37]
Chr2:2q14.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001374353.1(GLI2):c.2353del (p.Leu785fs) deletion not provided [RCV001812476] Chr2:120988318 [GRCh38]
Chr2:121745894 [GRCh37]
Chr2:2q14.2		 pathogenic
NM_001374353.1(GLI2):c.1157C>T (p.Pro386Leu) single nucleotide variant not provided [RCV001812980] Chr2:120972038 [GRCh38]
Chr2:121729614 [GRCh37]
Chr2:2q14.2		 uncertain significance
NM_001374353.1(GLI2):c.3186C>T (p.Asp1062=) single nucleotide variant Holoprosencephaly 9 [RCV000362651] Chr2:120989151 [GRCh38]
Chr2:121746727 [GRCh37]
Chr2:2q14.2		 uncertain significance
GLI2, 1256TER single nucleotide variant Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome [RCV000128395] Chr2:2q14.2 pathogenic
NM_001374353.1(GLI2):c.2311_2317del (p.Leu771fs) deletion Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome [RCV000128396] Chr2:120988273..120988279 [GRCh38]
Chr2:121745849..121745855 [GRCh37]
Chr2:2q14.2		 pathogenic
NM_001374353.1(GLI2):c.2030_2033del (p.Leu677fs) deletion Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome [RCV000128397] Chr2:120986401..120986404 [GRCh38]
Chr2:121743977..121743980 [GRCh37]
Chr2:2q14.2		 pathogenic
NM_001374353.1(GLI2):c.1138G>T (p.Glu380Ter) single nucleotide variant Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome [RCV000128398] Chr2:120972019 [GRCh38]
Chr2:121729595 [GRCh37]
Chr2:2q14.2		 pathogenic
NM_001374353.1(GLI2):c.1935G>A (p.Ser645=) single nucleotide variant GLI2-related disorder [RCV003891710]|Holoprosencephaly 9 [RCV000384359]|Holoprosencephaly 9 [RCV000865443]|not provided [RCV001727614]|not specified [RCV000174340] Chr2:120986307 [GRCh38]
Chr2:121743883 [GRCh37]
Chr2:2q14.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001374353.1(GLI2):c.2997C>T (p.Asp999=) single nucleotide variant Holoprosencephaly 9 [RCV000307745]|Holoprosencephaly 9 [RCV000544199]|not provided [RCV001618329]|not specified [RCV000174540] Chr2:120988962 [GRCh38]
Chr2:121746538 [GRCh37]
Chr2:2q14.2		 benign|likely benign
NM_001374353.1(GLI2):c.3539G>A (p.Gly1180Asp) single nucleotide variant GLI2-related disorder [RCV003975276]|Holoprosencephaly 9 [RCV000279331]|Holoprosencephaly 9 [RCV001088678]|not provided [RCV000429329]|not specified [RCV000174543] Chr2:120989504 [GRCh38]
Chr2:121747080 [GRCh37]
Chr2:2q14.2		 benign|likely benign
NM_001374353.1(GLI2):c.4577G>A (p.Arg1526His) single nucleotide variant GLI2-related disorder [RCV003965257]|Holoprosencephaly 9 [RCV001136006]|Holoprosencephaly 9 [RCV002056922]|not provided [RCV003430724]|not specified [RCV000174546] Chr2:120990542 [GRCh38]
Chr2:121748118 [GRCh37]
Chr2:2q14.2		 benign|likely benign
NM_001374353.1(GLI2):c.2967C>T (p.Gly989=) single nucleotide variant GLI2-related disorder [RCV003937565]|Holoprosencephaly 9 [RCV000396778]|Holoprosencephaly 9 [RCV000871933]|not provided [RCV001539228]|not specified [RCV000174548] Chr2:120988932 [GRCh38]
Chr2:121746508 [GRCh37]
Chr2:2q14.2		 benign|likely benign
NM_001374353.1(GLI2):c.2889C>T (p.Ser963=) single nucleotide variant Holoprosencephaly 9 [RCV000302004]|Holoprosencephaly 9 [RCV000555688]|not provided [RCV001539729]|not specified [RCV000174549] Chr2:120988854 [GRCh38]
Chr2:121746430 [GRCh37]
Chr2:2q14.2		 benign|likely benign
NM_001374353.1(GLI2):c.4282C>T (p.Leu1428Phe) single nucleotide variant Holoprosencephaly 9 [RCV000354924]|Holoprosencephaly 9 [RCV001086172]|not provided [RCV000438850]|not specified [RCV000174550] Chr2:120990247 [GRCh38]
Chr2:121747823 [GRCh37]
Chr2:2q14.2		 benign|likely benign
NM_001374353.1(GLI2):c.4281G>A (p.Met1427Ile) single nucleotide variant Holoprosencephaly 9 [RCV000314146]|Holoprosencephaly 9 [RCV001081349]|not provided [RCV000438650]|not specified [RCV000174551] Chr2:120990246 [GRCh38]
Chr2:121747822 [GRCh37]
Chr2:2q14.2		 benign|likely benign
NM_001374353.1(GLI2):c.4003A>G (p.Met1335Val) single nucleotide variant Holoprosencephaly 9 [RCV000306876]|Holoprosencephaly 9 [RCV000544550]|not provided [RCV001573006]|not specified [RCV000174552] Chr2:120989968 [GRCh38]
Chr2:121747544 [GRCh37]
Chr2:2q14.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001374353.1(GLI2):c.1243G>A (p.Val415Met) single nucleotide variant Holoprosencephaly 9 [RCV000398224]|Holoprosencephaly 9 [RCV000552345]|not specified [RCV000180270] Chr2:120975035 [GRCh38]
Chr2:121732611 [GRCh37]
Chr2:2q14.2		 likely pathogenic|benign|likely benign
NM_001374353.1(GLI2):c.132G>A (p.Ala44=) single nucleotide variant Holoprosencephaly 9 [RCV001088871]|not provided [RCV000173371] Chr2:120797452 [GRCh38]
Chr2:121555028 [GRCh37]
Chr2:2q14.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001374353.1(GLI2):c.3784C>A (p.His1262Asn) single nucleotide variant not provided [RCV000174541] Chr2:120989749 [GRCh38]
Chr2:121747325 [GRCh37]
Chr2:2q14.2		 uncertain significance
NM_001374353.1(GLI2):c.2251C>T (p.Leu751=) single nucleotide variant Holoprosencephaly 9 [RCV001088684]|not provided [RCV000174542] Chr2:120988216 [GRCh38]
Chr2:121745792 [GRCh37]
Chr2:2q14.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001374353.1(GLI2):c.3418C>T (p.Leu1140=) single nucleotide variant Holoprosencephaly 9 [RCV000387728]|Holoprosencephaly 9 [RCV001088488]|not provided [RCV000174545] Chr2:120989383 [GRCh38]
Chr2:121746959 [GRCh37]
Chr2:2q14.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001374353.1(GLI2):c.4100G>A (p.Arg1367His) single nucleotide variant not provided [RCV000174547] Chr2:120990065 [GRCh38]
Chr2:121747641 [GRCh37]
Chr2:2q14.2		 uncertain significance
GRCh38/hg38 2q14.2(chr2:120815240-120979362)x3 copy number gain See cases [RCV000138170] Chr2:120815240..120979362 [GRCh38]
Chr2:121572815..121736938 [GRCh37]
Chr2:121289285..121453408 [NCBI36]
Chr2:2q14.2		 likely pathogenic
GRCh38/hg38 2q14.1-14.3(chr2:115302067-129071130)x1 copy number loss See cases [RCV000141584] Chr2:115302067..129071130 [GRCh38]
Chr2:116059643..129828703 [GRCh37]
Chr2:115776113..129545173 [NCBI36]
Chr2:2q14.1-14.3		 pathogenic
GRCh38/hg38 2q14.2(chr2:120621488-121102933)x3 copy number gain See cases [RCV000143031] Chr2:120621488..121102933 [GRCh38]
Chr2:121379064..121860509 [GRCh37]
Chr2:121095534..121576979 [NCBI36]
Chr2:2q14.2		 likely pathogenic
GRCh38/hg38 2q14.2-14.3(chr2:118687829-121621814)x1 copy number loss See cases [RCV000143725] Chr2:118687829..121621814 [GRCh38]
Chr2:119445405..122379390 [GRCh37]
Chr2:119161875..122095860 [NCBI36]
Chr2:2q14.2-14.3		 pathogenic
NM_001374353.1(GLI2):c.221A>G (p.His74Arg) single nucleotide variant Holoprosencephaly 9 [RCV002516690]|not provided [RCV000175800] Chr2:120927433 [GRCh38]
Chr2:121685009 [GRCh37]
Chr2:2q14.2		 uncertain significance
NM_001374353.1(GLI2):c.2253G>A (p.Leu751=) single nucleotide variant not specified [RCV000192818] Chr2:120988218 [GRCh38]
Chr2:121745794 [GRCh37]
Chr2:2q14.2		 uncertain significance
NM_001374353.1(GLI2):c.1120C>T (p.Arg374Cys) single nucleotide variant Holoprosencephaly 9 [RCV000765500]|Inborn genetic diseases [RCV002515286]|not provided [RCV000179902] Chr2:120972001 [GRCh38]
Chr2:121729577 [GRCh37]
Chr2:2q14.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001374353.1(GLI2):c.1121G>A (p.Arg374His) single nucleotide variant Holoprosencephaly 9 [RCV001215112]|not provided [RCV000179903] Chr2:120972002 [GRCh38]
Chr2:121729578 [GRCh37]
Chr2:2q14.2		 uncertain significance
NM_001374353.1(GLI2):c.3979C>T (p.Leu1327=) single nucleotide variant GLI2-related disorder [RCV003909928]|Holoprosencephaly 9 [RCV000406286]|Holoprosencephaly 9 [RCV001088889]|not provided [RCV000872847]|not specified [RCV000264664] Chr2:120989944 [GRCh38]
Chr2:121747520 [GRCh37]
Chr2:2q14.2		 benign|likely benign|uncertain significance
NM_001374353.1(GLI2):c.-1G>C single nucleotide variant Holoprosencephaly 9 [RCV000260557] Chr2:120797320 [GRCh38]
Chr2:121554896 [GRCh37]
Chr2:2q14.2		 benign|likely benign
NM_001374353.1(GLI2):c.2199T>G (p.Thr733=) single nucleotide variant Holoprosencephaly 9 [RCV000386078]|Holoprosencephaly 9 [RCV000878925] Chr2:120986571 [GRCh38]
Chr2:121744147 [GRCh37]
Chr2:2q14.2		 benign|likely benign|uncertain significance
NM_001374353.1(GLI2):c.4156A>G (p.Met1386Val) single nucleotide variant GLI2-related disorder [RCV003912389]|Holoprosencephaly 9 [RCV000394871]|Holoprosencephaly 9 [RCV002057566] Chr2:120990121 [GRCh38]
Chr2:121747697 [GRCh37]
Chr2:2q14.2		 benign|likely benign
NM_001374353.1(GLI2):c.2865T>A (p.Pro955=) single nucleotide variant GLI2-related disorder [RCV003922413]|Holoprosencephaly 9 [RCV000397069]|Holoprosencephaly 9 [RCV000864266]|not provided [RCV003430830] Chr2:120988830 [GRCh38]
Chr2:121746406 [GRCh37]
Chr2:2q14.2		 benign|likely benign|uncertain significance
NM_001374353.1(GLI2):c.845+10G>A single nucleotide variant GLI2-related disorder [RCV003912388]|Holoprosencephaly 9 [RCV000403759]|Holoprosencephaly 9 [RCV000865388] Chr2:120968925 [GRCh38]
Chr2:121726501 [GRCh37]
Chr2:2q14.2		 likely benign|uncertain significance
NM_001374353.1(GLI2):c.2598G>A (p.Pro866=) single nucleotide variant Holoprosencephaly 9 [RCV000404996]|Holoprosencephaly 9 [RCV003765914] Chr2:120988563 [GRCh38]
Chr2:121746139 [GRCh37]
Chr2:2q14.2		 likely benign|uncertain significance
NM_001374353.1(GLI2):c.3886C>A (p.Pro1296Thr) single nucleotide variant Holoprosencephaly 9 [RCV000405627]|Holoprosencephaly 9 [RCV002480173] Chr2:120989851 [GRCh38]
Chr2:121747427 [GRCh37]
Chr2:2q14.2		 uncertain significance
NM_001374353.1(GLI2):c.1317+6C>G single nucleotide variant Holoprosencephaly 9 [RCV000299187]|Holoprosencephaly 9 [RCV002521272] Chr2:120975115 [GRCh38]
Chr2:121732691 [GRCh37]
Chr2:2q14.2		 uncertain significance
NM_001374353.1(GLI2):c.1751A>G (p.Asn584Ser) single nucleotide variant GLI2-related disorder [RCV003922412]|Holoprosencephaly 9 [RCV000300246]|Holoprosencephaly 9 [RCV000864265]|not provided [RCV003430829]|not specified [RCV003323517] Chr2:120984589 [GRCh38]
Chr2:121742165 [GRCh37]
Chr2:2q14.2		 benign|likely benign
NM_001374353.1(GLI2):c.4293C>T (p.Tyr1431=) single nucleotide variant GLI2-related disorder [RCV003969950]|Holoprosencephaly 9 [RCV000260316]|Holoprosencephaly 9 [RCV002521279] Chr2:120990258 [GRCh38]
Chr2:121747834 [GRCh37]
Chr2:2q14.2		 likely benign|uncertain significance
GRCh37/hg19 2q14.2(chr2:121635607-121732989)x3 copy number gain See cases [RCV000240181] Chr2:121635607..121732989 [GRCh37]
Chr2:2q14.2		 uncertain significance
NM_001374353.1(GLI2):c.4255G>A (p.Ala1419Thr) single nucleotide variant Holoprosencephaly 9 [RCV000277840]|Inborn genetic diseases [RCV002521278] Chr2:120990220 [GRCh38]
Chr2:121747796 [GRCh37]
Chr2:2q14.2		 likely benign|uncertain significance
NM_001374353.1(GLI2):c.244G>A (p.Gly82Ser) single nucleotide variant Holoprosencephaly 9 [RCV000285886]|Holoprosencephaly 9 [RCV002521271] Chr2:120927456 [GRCh38]
Chr2:121685032 [GRCh37]
Chr2:2q14.2		 uncertain significance
NM_001374353.1(GLI2):c.2657C>G (p.Thr886Ser) single nucleotide variant GLI2-related disorder [RCV003940007]|Holoprosencephaly 9 [RCV000278618]|Holoprosencephaly 9 [RCV002519181]|Inborn genetic diseases [RCV002518964]|not provided [RCV001357538]|not specified [RCV000338365] Chr2:120988622 [GRCh38]
Chr2:121746198 [GRCh37]
Chr2:2q14.2		 benign|likely benign|uncertain significance
NM_001374353.1(GLI2):c.220C>T (p.His74Tyr) single nucleotide variant GLI2-related disorder [RCV003972395]|Holoprosencephaly 9 [RCV000380279]|Inborn genetic diseases [RCV002521270] Chr2:120927432 [GRCh38]
Chr2:121685008 [GRCh37]
Chr2:2q14.2		 likely benign|uncertain significance
NM_001374353.1(GLI2):c.595G>A (p.Gly199Ser) single nucleotide variant GLI2-related disorder [RCV003940324]|Holoprosencephaly 9 [RCV000381365]|Holoprosencephaly 9 [RCV000877244] Chr2:120955382 [GRCh38]
Chr2:121712958 [GRCh37]
Chr2:2q14.2		 benign|likely benign|uncertain significance
NM_001374353.1(GLI2):c.4208C>G (p.Ala1403Gly) single nucleotide variant Holoprosencephaly 9 [RCV000367791]|Holoprosencephaly 9 [RCV002521277] Chr2:120990173 [GRCh38]
Chr2:121747749 [GRCh37]
Chr2:2q14.2		 benign|likely benign|uncertain significance
NM_001374353.1(GLI2):c.3409G>A (p.Val1137Ile) single nucleotide variant GLI2-related disorder [RCV003940325]|Holoprosencephaly 9 [RCV000368391]|Holoprosencephaly 9 [RCV002523082] Chr2:120989374 [GRCh38]
Chr2:121746950 [GRCh37]
Chr2:2q14.2		 benign|uncertain significance
NM_001374353.1(GLI2):c.4446T>C (p.Thr1482=) single nucleotide variant GLI2-related disorder [RCV003922414]|Holoprosencephaly 9 [RCV000374740]|Holoprosencephaly 9 [RCV002521280]|not specified [RCV000501256] Chr2:120990411 [GRCh38]
Chr2:121747987 [GRCh37]
Chr2:2q14.2		 benign|likely benign|uncertain significance
NM_001374353.1(GLI2):c.3647A>G (p.Gln1216Arg) single nucleotide variant Holoprosencephaly 9 [RCV000375047]|Holoprosencephaly 9 [RCV002521276] Chr2:120989612 [GRCh38]
Chr2:121747188 [GRCh37]
Chr2:2q14.2		 uncertain significance
NM_001374353.1(GLI2):c.148+5T>C single nucleotide variant Holoprosencephaly 9 [RCV000375117]|Holoprosencephaly 9 [RCV000870950]|Inborn genetic diseases [RCV003343785]|not provided [RCV001573750] Chr2:120797473 [GRCh38]
Chr2:121555049 [GRCh37]
Chr2:2q14.2		 benign|likely benign|uncertain significance
NM_001374353.1(GLI2):c.1808C>T (p.Thr603Met) single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV000207367]|Bardet-Biedl syndrome [RCV003224225]|Holoprosencephaly 9 [RCV000263942]|Holoprosencephaly 9 [RCV000873686]|not provided [RCV001705180]|not specified [RCV000309933] Chr2:120984646 [GRCh38]
Chr2:121742222 [GRCh37]
Chr2:2q14.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001374353.1(GLI2):c.562del (p.Ala188fs) deletion Inborn genetic diseases [RCV000210692] Chr2:120955349 [GRCh38]
Chr2:121712925 [GRCh37]
Chr2:2q14.2		 pathogenic|likely pathogenic
NM_001374353.1(GLI2):c.2437T>C (p.Phe813Leu) single nucleotide variant GLI2-related disorder [RCV003947734]|Holoprosencephaly 9 [RCV001078823]|not provided [RCV000224873] Chr2:120988402 [GRCh38]
Chr2:121745978 [GRCh37]
Chr2:2q14.2		 likely benign
NM_001374353.1(GLI2):c.349G>A (p.Ala117Thr) single nucleotide variant Microform holoprosencephaly [RCV000223802] Chr2:120951337 [GRCh38]
Chr2:121708913 [GRCh37]
Chr2:2q14.2		 uncertain significance
NM_001374353.1(GLI2):c.148+15G>A single nucleotide variant Holoprosencephaly 9 [RCV000321059] Chr2:120797483 [GRCh38]
Chr2:121555059 [GRCh37]
Chr2:2q14.2		 likely benign|uncertain significance
NM_001374353.1(GLI2):c.790C>T (p.Arg264Ter) single nucleotide variant Microform holoprosencephaly [RCV000223706] Chr2:120968860 [GRCh38]
Chr2:121726436 [GRCh37]
Chr2:2q14.2		 likely pathogenic
NM_001374353.1(GLI2):c.2013del (p.Ser673fs) deletion Microform holoprosencephaly [RCV000223797] Chr2:120986383 [GRCh38]
Chr2:121743959 [GRCh37]
Chr2:2q14.2		 likely pathogenic
NM_001374353.1(GLI2):c.4014A>G (p.Gln1338=) single nucleotide variant GLI2-related disorder [RCV003969949]|Holoprosencephaly 9 [RCV000347684]|Holoprosencephaly 9 [RCV002057565]|not specified [RCV003987511] Chr2:120989979 [GRCh38]
Chr2:121747555 [GRCh37]
Chr2:2q14.2		 likely benign|uncertain significance
NM_001374353.1(GLI2):c.4710G>C (p.Ter1570Tyr) single nucleotide variant Microform holoprosencephaly [RCV000223717] Chr2:120990675 [GRCh38]
Chr2:121748251 [GRCh37]
Chr2:2q14.2		 likely pathogenic
NM_001374353.1(GLI2):c.2186G>A (p.Trp729Ter) single nucleotide variant Microform holoprosencephaly [RCV000223883] Chr2:120986558 [GRCh38]
Chr2:121744134 [GRCh37]
Chr2:2q14.2		 likely pathogenic
NM_001374353.1(GLI2):c.596dup (p.Ala200fs) duplication Microform holoprosencephaly [RCV000223840] Chr2:120955378..120955379 [GRCh38]
Chr2:121712954..121712955 [GRCh37]
Chr2:2q14.2		 likely pathogenic
NM_001374353.1(GLI2):c.1755C>T (p.Asp585=) single nucleotide variant Holoprosencephaly 9 [RCV000358775]|Holoprosencephaly 9 [RCV002521273] Chr2:120984593 [GRCh38]
Chr2:121742169 [GRCh37]
Chr2:2q14.2		 likely benign|uncertain significance
NM_001374353.1(GLI2):c.1890G>A (p.Lys630=) single nucleotide variant Holoprosencephaly 9 [RCV000359907]|Holoprosencephaly 9 [RCV002057564] Chr2:120984728 [GRCh38]
Chr2:121742304 [GRCh37]
Chr2:2q14.2		 likely benign|uncertain significance
NM_001374353.1(GLI2):c.2062G>A (p.Asp688Asn) single nucleotide variant Holoprosencephaly 9 [RCV000331629]|Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome [RCV003330086] Chr2:120986434 [GRCh38]
Chr2:121744010 [GRCh37]
Chr2:2q14.2		 likely benign|uncertain significance
NM_001374353.1(GLI2):c.1917C>T (p.Ser639=) single nucleotide variant Holoprosencephaly 9 [RCV000325096] Chr2:120986289 [GRCh38]
Chr2:121743865 [GRCh37]
Chr2:2q14.2		 uncertain significance
NM_001374353.1(GLI2):c.4170G>A (p.Pro1390=) single nucleotide variant GLI2-related disorder [RCV003910274]|Holoprosencephaly 9 [RCV000312790]|Holoprosencephaly 9 [RCV000952193] Chr2:120990135 [GRCh38]
Chr2:121747711 [GRCh37]
Chr2:2q14.2		 benign|likely benign|uncertain significance
NM_001374353.1(GLI2):c.252C>T (p.His84=) single nucleotide variant Holoprosencephaly 9 [RCV000345403]|Holoprosencephaly 9 [RCV000871418] Chr2:120927464 [GRCh38]
Chr2:121685040 [GRCh37]
Chr2:2q14.2		 likely benign|uncertain significance
NM_001374353.1(GLI2):c.31G>A (p.Glu11Lys) single nucleotide variant Holoprosencephaly 9 [RCV000315817] Chr2:120797351 [GRCh38]
Chr2:121554927 [GRCh37]
Chr2:2q14.2		 uncertain significance
NM_001374353.1(GLI2):c.2395G>T (p.Ala799Ser) single nucleotide variant Holoprosencephaly 9 [RCV000351327] Chr2:120988360 [GRCh38]
Chr2:121745936 [GRCh37]
Chr2:2q14.2		 uncertain significance
NM_001374353.1(GLI2):c.661C>T (p.Pro221Ser) single nucleotide variant Holoprosencephaly 9 [RCV001135699]|not provided [RCV000519505] Chr2:120968731 [GRCh38]
Chr2:121726307 [GRCh37]
Chr2:2q14.2		 uncertain significance
NM_001374353.1(GLI2):c.1173G>A (p.Ala391=) single nucleotide variant GLI2-related disorder [RCV003922411]|Holoprosencephaly 9 [RCV000352828] Chr2:120972054 [GRCh38]
Chr2:121729630 [GRCh37]
Chr2:2q14.2		 likely benign|uncertain significance
NM_001374353.1(GLI2):c.1633-7T>A single nucleotide variant Holoprosencephaly 9 [RCV000354006] Chr2:120984464 [GRCh38]
Chr2:121742040 [GRCh37]
Chr2:2q14.2		 uncertain significance
NM_001374353.1(GLI2):c.4506C>T (p.Gly1502=) single nucleotide variant Holoprosencephaly 9 [RCV003765530]|not provided [RCV000723779]|not specified [RCV000245986] Chr2:120990471 [GRCh38]
Chr2:121748047 [GRCh37]
Chr2:2q14.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001374353.1(GLI2):c.3831G>A (p.Thr1277=) single nucleotide variant Holoprosencephaly 9 [RCV000280723]|Holoprosencephaly 9 [RCV000560566]|not provided [RCV001651190]|not specified [RCV000248483] Chr2:120989796 [GRCh38]
Chr2:121747372 [GRCh37]
Chr2:2q14.2		 benign|likely benign
NM_001374353.1(GLI2):c.*1375A>C single nucleotide variant Holoprosencephaly 9 [RCV000280797] Chr2:120992050 [GRCh38]
Chr2:121749626 [GRCh37]
Chr2:2q14.2		 benign|likely benign
NM_001374353.1(GLI2):c.3500C>A (p.Pro1167Gln) single nucleotide variant not specified [RCV000243724] Chr2:120989465 [GRCh38]
Chr2:121747041 [GRCh37]
Chr2:2q14.2		 likely benign
NM_001374353.1(GLI2):c.1317+40G>A single nucleotide variant not specified [RCV000246260] Chr2:120975149 [GRCh38]
Chr2:121732725 [GRCh37]
Chr2:2q14.2		 likely benign
NM_001374353.1(GLI2):c.963C>G (p.Pro321=) single nucleotide variant Holoprosencephaly 9 [RCV000311962]|Holoprosencephaly 9 [RCV000526569]|not provided [RCV001555140]|not specified [RCV000243972] Chr2:120970510 [GRCh38]
Chr2:121728086 [GRCh37]
Chr2:2q14.2		 benign|likely benign
NM_001374353.1(GLI2):c.643+16C>G single nucleotide variant Holoprosencephaly 9 [RCV001701899]|Holoprosencephaly 9 [RCV002058187]|Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome [RCV001701820]|not provided [RCV001636788]|not specified [RCV000251205] Chr2:120955446 [GRCh38]
Chr2:121713022 [GRCh37]
Chr2:2q14.2		 benign
NM_001374353.1(GLI2):c.643+35T>C single nucleotide variant Holoprosencephaly 9 [RCV001701900]|Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome [RCV001701821]|not provided [RCV001668511]|not specified [RCV000246567] Chr2:120955465 [GRCh38]
Chr2:121713041 [GRCh37]
Chr2:2q14.2		 benign
NM_001374353.1(GLI2):c.644-28G>C single nucleotide variant not specified [RCV000251647] Chr2:120968686 [GRCh38]
Chr2:121726262 [GRCh37]
Chr2:2q14.2		 likely benign
NM_001374353.1(GLI2):c.803C>T (p.Ala268Val) single nucleotide variant Holoprosencephaly 9 [RCV001085184]|not provided [RCV000514152]|not specified [RCV000251760] Chr2:120968873 [GRCh38]
Chr2:121726449 [GRCh37]
Chr2:2q14.2		 benign|likely benign
NM_001374353.1(GLI2):c.1317+25C>T single nucleotide variant not provided [RCV001564829]|not specified [RCV000254233] Chr2:120975134 [GRCh38]
Chr2:121732710 [GRCh37]
Chr2:2q14.2		 likely benign
NM_001374353.1(GLI2):c.1632+49C>T single nucleotide variant not provided [RCV001683051]|not specified [RCV000242033] Chr2:120982929 [GRCh38]
Chr2:121740505 [GRCh37]
Chr2:2q14.2		 benign
NM_001374353.1(GLI2):c.801G>A (p.Ser267=) single nucleotide variant Holoprosencephaly 9 [RCV000346541]|Holoprosencephaly 9 [RCV001520375]|Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome [RCV001701822]|not provided [RCV001640536]|not specified [RCV000247010] Chr2:120968871 [GRCh38]
Chr2:121726447 [GRCh37]
Chr2:2q14.2		 benign
NM_001374353.1(GLI2):c.1060-27C>T single nucleotide variant Holoprosencephaly 9 [RCV001701898]|Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome [RCV001702393]|not provided [RCV001689853]|not specified [RCV000244712] Chr2:120971914 [GRCh38]
Chr2:121729490 [GRCh37]
Chr2:2q14.2		 benign
NM_001374353.1(GLI2):c.2242+35A>G single nucleotide variant Holoprosencephaly 9 [RCV001701819]|Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome [RCV001701967]|not provided [RCV001689854]|not specified [RCV000244779] Chr2:120986649 [GRCh38]
Chr2:121744225 [GRCh37]
Chr2:2q14.2		 benign
NM_001374353.1(GLI2):c.1182+47T>C single nucleotide variant not provided [RCV001610661]|not specified [RCV000249654] Chr2:120972110 [GRCh38]
Chr2:121729686 [GRCh37]
Chr2:2q14.2		 benign
NM_001374353.1(GLI2):c.1893C>T (p.Thr631=) single nucleotide variant Holoprosencephaly 9 [RCV000269999]|Holoprosencephaly 9 [RCV001510939]|not provided [RCV001683052]|not specified [RCV000247310] Chr2:120984731 [GRCh38]
Chr2:121742307 [GRCh37]
Chr2:2q14.2		 benign|likely benign
NM_001374353.1(GLI2):c.-7G>A single nucleotide variant GLI2-related disorder [RCV003891932]|Holoprosencephaly 9 [RCV000369283]|not provided [RCV001589264]|not specified [RCV000252278] Chr2:120797314 [GRCh38]
Chr2:121554890 [GRCh37]
Chr2:2q14.2		 benign|likely benign
NM_001374353.1(GLI2):c.1818C>A (p.Gly606=) single nucleotide variant GLI2-related disorder [RCV003891933]|Holoprosencephaly 9 [RCV000323865]|Holoprosencephaly 9 [RCV000865121]|not provided [RCV001812727] Chr2:120984656 [GRCh38]
Chr2:121742232 [GRCh37]
Chr2:2q14.2		 benign|likely benign
NM_001374353.1(GLI2):c.2037A>G (p.Ala679=) single nucleotide variant Holoprosencephaly 9 [RCV000290686]|Holoprosencephaly 9 [RCV000865122]|not provided [RCV001727658]|not specified [RCV000242635] Chr2:120986409 [GRCh38]
Chr2:121743985 [GRCh37]
Chr2:2q14.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001374353.1(GLI2):c.1632+36G>A single nucleotide variant not specified [RCV000245113] Chr2:120982916 [GRCh38]
Chr2:121740492 [GRCh37]
Chr2:2q14.2		 likely benign
GRCh37/hg19 2q12.3-14.3(chr2:109798247-125658380)x1 copy number loss See cases [RCV000240485] Chr2:109798247..125658380 [GRCh37]
Chr2:2q12.3-14.3		 pathogenic
NM_001374353.1(GLI2):c.2211G>T (p.Arg737=) single nucleotide variant GLI2-related disorder [RCV003891934]|Holoprosencephaly 9 [RCV000872584] Chr2:120986583 [GRCh38]
Chr2:121744159 [GRCh37]
Chr2:2q14.2		 benign|likely benign
NM_001374353.1(GLI2):c.4530T>C (p.Gly1510=) single nucleotide variant Holoprosencephaly 9 [RCV002058186]|not specified [RCV000242903] Chr2:120990495 [GRCh38]
Chr2:121748071 [GRCh37]
Chr2:2q14.2		 benign|likely benign
NM_001374353.1(GLI2):c.2108G>A (p.Arg703His) single nucleotide variant Holoprosencephaly 1 [RCV000986804]|Holoprosencephaly 9 [RCV001417451]|Holoprosencephaly 9 [RCV001542330]|Inborn genetic diseases [RCV004021011]|not provided [RCV001573350]|not specified [RCV000247821] Chr2:120986480 [GRCh38]
Chr2:121744056 [GRCh37]
Chr2:2q14.2		 benign|likely benign|uncertain significance
NM_001374353.1(GLI2):c.254+32C>T single nucleotide variant not provided [RCV001731464]|not specified [RCV000247906] Chr2:120927498 [GRCh38]
Chr2:121685074 [GRCh37]
Chr2:2q14.2		 likely benign
NM_001374353.1(GLI2):c.1632+37G>A single nucleotide variant not provided [RCV001565011]|not specified [RCV000250263] Chr2:120982917 [GRCh38]
Chr2:121740493 [GRCh37]
Chr2:2q14.2		 likely benign
NM_001374353.1(GLI2):c.1710G>A (p.Thr570=) single nucleotide variant Holoprosencephaly 9 [RCV000393209]|Holoprosencephaly 9 [RCV000545543]|not provided [RCV001546892]|not specified [RCV000250361] Chr2:120984548 [GRCh38]
Chr2:121742124 [GRCh37]
Chr2:2q14.2		 benign|likely benign
NM_001374353.1(GLI2):c.643+24G>A single nucleotide variant Holoprosencephaly 9 [RCV001702394]|Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome [RCV001702395]|not provided [RCV001640535]|not specified [RCV000243016] Chr2:120955454 [GRCh38]
Chr2:121713030 [GRCh37]
Chr2:2q14.2		 benign
NM_001374353.1(GLI2):c.1633-17C>T single nucleotide variant Holoprosencephaly 9 [RCV002058185]|not provided [RCV001618437]|not specified [RCV000245627] Chr2:120984454 [GRCh38]
Chr2:121742030 [GRCh37]
Chr2:2q14.2		 benign
NM_001374353.1(GLI2):c.1632+11G>A single nucleotide variant Holoprosencephaly 9 [RCV003765529]|not specified [RCV000252914] Chr2:120982891 [GRCh38]
Chr2:121740467 [GRCh37]
Chr2:2q14.2		 benign|likely benign
NM_001374353.1(GLI2):c.720C>T (p.Asp240=) single nucleotide variant Holoprosencephaly 9 [RCV000291688]|Holoprosencephaly 9 [RCV000756206]|not provided [RCV001812728]|not specified [RCV000243463] Chr2:120968790 [GRCh38]
Chr2:121726366 [GRCh37]
Chr2:2q14.2		 benign|likely benign
NM_001374353.1(GLI2):c.148+14C>T single nucleotide variant Holoprosencephaly 9 [RCV000266005]|Holoprosencephaly 9 [RCV002058184]|not specified [RCV000248341] Chr2:120797482 [GRCh38]
Chr2:121555058 [GRCh37]
Chr2:2q14.2		 benign|likely benign
NM_001374353.1(GLI2):c.*1147_*1148del deletion Holoprosencephaly sequence [RCV000298843] Chr2:120991822..120991823 [GRCh38]
Chr2:121749398..121749399 [GRCh37]
Chr2:2q14.2		 likely benign
NM_001374353.1(GLI2):c.*816G>C single nucleotide variant Holoprosencephaly 9 [RCV000314058] Chr2:120991491 [GRCh38]
Chr2:121749067 [GRCh37]
Chr2:2q14.2		 benign
NM_001374353.1(GLI2):c.*963A>T</