ZIC2 (Zic family member 2) - Rat Genome Database

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Gene: ZIC2 (Zic family member 2) Homo sapiens
Analyze
Symbol: ZIC2
Name: Zic family member 2
RGD ID: 1322491
HGNC Page HGNC
Description: Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and chromatin DNA binding activity. Predicted to be involved in nervous system development; regulation of transcription, DNA-templated; and visual perception. Predicted to act upstream of or within several processes, including cilium organization; neural tube closure; and positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry. Located in nuclear body. Implicated in holoprosencephaly and holoprosencephaly 5.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: HPE5; Zic family member 2 (odd-paired Drosophila homolog); Zic family member 2 (odd-paired homolog, Drosophila); Zinc finger protein of the cerebellum 2; zinc finger protein ZIC 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1399,981,784 - 99,986,765 (+)EnsemblGRCh38hg38GRCh38
GRCh381399,981,784 - 99,986,765 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3713100,634,038 - 100,639,019 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361399,432,320 - 99,437,020 (+)NCBINCBI36hg18NCBI36
Build 341399,432,319 - 99,437,019NCBI
Celera1381,478,855 - 81,483,555 (+)NCBI
Cytogenetic Map13q32.3NCBI
HuRef1381,227,505 - 81,232,531 (+)NCBIHuRef
CHM1_113100,603,892 - 100,608,865 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (ISS)
nuclear body  (IDA)
nucleoplasm  (IDA)
nucleus  (IBA,ISS)

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

Human Phenotype
Abnormal aortic morphology  (IAGP)
Abnormal brainstem morphology  (IAGP)
Abnormal corpus callosum morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal form of the vertebral bodies  (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 pulmonary valve morphology  (IAGP)
Abnormal vertebral morphology  (IAGP)
Abnormality of neuronal migration  (IAGP)
Abnormality of the antihelix  (IAGP)
Abnormality of the autonomic nervous system  (IAGP)
Abnormality of the genitourinary system  (IAGP)
Abnormality of the ribs  (IAGP)
Abnormality of the septum pellucidum  (IAGP)
Abnormality of the spleen  (IAGP)
Absent nares  (IAGP)
Absent speech  (IAGP)
Agenesis of corpus callosum  (IAGP)
Alobar holoprosencephaly  (IAGP)
Ambiguous genitalia  (IAGP)
Anophthalmia  (IAGP)
Anosmia  (IAGP)
Anterior hypopituitarism  (IAGP)
Anteriorly placed anus  (IAGP)
Anteverted nares  (IAGP)
Anxiety  (IAGP)
Apathy  (IAGP)
Aplasia of the falx cerebri  (IAGP)
Aplasia/Hypoplasia involving the nose  (IAGP)
Aplasia/Hypoplasia of the corpus callosum  (IAGP)
Aplasia/Hypoplasia of the lungs  (IAGP)
Arrhythmia  (IAGP)
Aspiration pneumonia  (IAGP)
Asthma  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bifid uvula  (IAGP)
Bilateral cleft lip  (IAGP)
Blepharophimosis  (IAGP)
Brachydactyly  (IAGP)
Branchial anomaly  (IAGP)
Broad forehead  (IAGP)
Broad philtrum  (IAGP)
Central apnea  (IAGP)
Central diabetes insipidus  (IAGP)
Central hypothyroidism  (IAGP)
Cerebral visual impairment  (IAGP)
Choanal atresia  (IAGP)
Chorea  (IAGP)
Chorioretinal coloboma  (IAGP)
Chronic lung disease  (IAGP)
Cleft palate  (IAGP)
Coarctation of aorta  (IAGP)
Cognitive impairment  (IAGP)
Congenital diaphragmatic hernia  (IAGP)
Constipation  (IAGP)
Cryptorchidism  (IAGP)
Cyclopia  (IAGP)
Dandy-Walker malformation  (IAGP)
Decreased response to growth hormone stimuation test  (IAGP)
Deep philtrum  (IAGP)
Deeply set eye  (IAGP)
Depressed nasal bridge  (IAGP)
Depressed nasal ridge  (IAGP)
Depressed nasal tip  (IAGP)
Depression  (IAGP)
Diabetes insipidus  (IAGP)
Diabetes mellitus  (IAGP)
Duodenal atresia  (IAGP)
Dysphagia  (IAGP)
Dystonia  (IAGP)
EMG: myopathic abnormalities  (IAGP)
Encephalocele  (IAGP)
Epicanthus  (IAGP)
Ethmoidal encephalocele  (IAGP)
Expressive language delay  (IAGP)
External ear malformation  (IAGP)
Failure to thrive  (IAGP)
Failure to thrive in infancy  (IAGP)
Feeding difficulties in infancy  (IAGP)
Flat occiput  (IAGP)
Flexion contracture  (IAGP)
Frontal bossing  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastrostomy tube feeding in infancy  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Hand polydactyly  (IAGP)
Hemangioma  (IAGP)
High forehead  (IAGP)
High palate  (IAGP)
Highly arched eyebrow  (IAGP)
Hip dislocation  (IAGP)
Holoprosencephaly  (IAGP)
Hydrocephalus  (IAGP)
Hypertelorism  (IAGP)
Hypoglycemia  (IAGP)
Hyponatremia  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the pons  (IAGP)
Hypoplasia of the zygomatic bone  (IAGP)
Hyposmia  (IAGP)
Hypotelorism  (IAGP)
Hypothyroidism  (IAGP)
Hypotonia  (IAGP)
Impulsivity  (IAGP)
Inability to walk  (IAGP)
Infantile axial hypotonia  (IAGP)
Intellectual disability  (IAGP)
Intestinal atresia  (IAGP)
Intrauterine growth retardation  (IAGP)
Iris coloboma  (IAGP)
Irritability  (IAGP)
Joint hyperflexibility  (IAGP)
Lethargy  (IAGP)
Limb dystonia  (IAGP)
Lobar holoprosencephaly  (IAGP)
Macrocephaly  (IAGP)
Macrotia  (IAGP)
Maternal diabetes  (IAGP)
Median cleft lip  (IAGP)
Median cleft lip and palate  (IAGP)
Megalencephaly  (IAGP)
Microcephaly  (IAGP)
Microphthalmia  (IAGP)
Midnasal stenosis  (IAGP)
Morphological abnormality of the gastrointestinal tract  (IAGP)
Muscle weakness  (IAGP)
Narrow forehead  (IAGP)
Narrow nasal bridge  (IAGP)
Neural tube defect  (IAGP)
Omphalocele  (IAGP)
Optic atrophy  (IAGP)
Oral cleft  (IAGP)
Oromotor apraxia  (IAGP)
Panhypopituitarism  (IAGP)
Perisylvian polymicrogyria  (IAGP)
Poor speech  (IAGP)
Poor suck  (IAGP)
Precocious puberty  (IAGP)
Premature birth  (IAGP)
Proboscis  (IAGP)
Proteinuria  (IAGP)
Ptosis  (IAGP)
Renal agenesis  (IAGP)
Respiratory insufficiency  (IAGP)
Retinopathy  (IAGP)
Rhombencephalosynapsis  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Semilobar holoprosencephaly  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short attention span  (IAGP)
Short neck  (IAGP)
Short nose  (IAGP)
Short philtrum  (IAGP)
Short stature  (IAGP)
Single naris  (IAGP)
Sleep-wake cycle disturbance  (IAGP)
Sloping forehead  (IAGP)
Solitary median maxillary central incisor  (IAGP)
Spasticity  (IAGP)
Specific learning disability  (IAGP)
Spinal cord tumor  (IAGP)
Spinal dysraphism  (IAGP)
Strabismus  (IAGP)
Synophrys  (IAGP)
Talipes  (IAGP)
Temperature instability  (IAGP)
Tented upper lip vermilion  (IAGP)
Tetralogy of Fallot  (IAGP)
Thick eyebrow  (IAGP)
Tooth agenesis  (IAGP)
Trigonocephaly  (IAGP)
Upslanted palpebral fissure  (IAGP)
Ventricular septal defect  (IAGP)
Vomiting  (IAGP)
References

Additional References at PubMed
PMID:8557628   PMID:10984499   PMID:11038359   PMID:11238441   PMID:11285244   PMID:11479728   PMID:11857562   PMID:11910512   PMID:11991713   PMID:12522805   PMID:12666207   PMID:13678579  
PMID:14679585   PMID:15057823   PMID:15221788   PMID:15590697   PMID:17251188   PMID:18363970   PMID:18417618   PMID:19022413   PMID:19177455   PMID:19274049   PMID:19322201   PMID:19784848  
PMID:19955556   PMID:20199689   PMID:20301702   PMID:20531442   PMID:20683983   PMID:21638761   PMID:21661123   PMID:21873635   PMID:21908606   PMID:21940735   PMID:22310223   PMID:22733541  
PMID:22859937   PMID:22863734   PMID:23396134   PMID:24150758   PMID:24677696   PMID:25233373   PMID:25515538   PMID:25609649   PMID:25900982   PMID:26318045   PMID:26426078   PMID:26687479  
PMID:26972000   PMID:27466203   PMID:28514442   PMID:28577975   PMID:29442327   PMID:29588366   PMID:29844126   PMID:29992973   PMID:30075825   PMID:30483794   PMID:31640781   PMID:31753913  
PMID:31884576   PMID:32064600   PMID:32460013   PMID:33557041   PMID:34232917  


Genomics

Comparative Map Data
ZIC2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1399,981,784 - 99,986,765 (+)EnsemblGRCh38hg38GRCh38
GRCh381399,981,784 - 99,986,765 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3713100,634,038 - 100,639,019 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361399,432,320 - 99,437,020 (+)NCBINCBI36hg18NCBI36
Build 341399,432,319 - 99,437,019NCBI
Celera1381,478,855 - 81,483,555 (+)NCBI
Cytogenetic Map13q32.3NCBI
HuRef1381,227,505 - 81,232,531 (+)NCBIHuRef
CHM1_113100,603,892 - 100,608,865 (+)NCBICHM1_1
Zic2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3914122,712,796 - 122,717,740 (+)NCBIGRCm39mm39
GRCm39 Ensembl14122,712,847 - 122,717,264 (+)Ensembl
GRCm3814122,475,384 - 122,480,328 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl14122,475,435 - 122,479,852 (+)EnsemblGRCm38mm10GRCm38
MGSCv3714122,874,606 - 122,879,550 (+)NCBIGRCm37mm9NCBIm37
MGSCv3614121,610,615 - 121,615,032 (+)NCBImm8
Celera14121,006,828 - 121,042,740 (+)NCBICelera
Cytogenetic Map14E5NCBI
cM Map1465.97NCBI
Zic2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21599,576,697 - 99,581,522 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1599,576,697 - 99,581,522 (+)Ensembl
Rnor_6.015108,908,366 - 108,913,812 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl15108,908,607 - 108,912,737 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.015112,296,472 - 112,301,371 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.415107,609,060 - 107,613,169 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.115107,624,839 - 107,629,424 (+)NCBI
Celera1598,350,700 - 98,355,483 (+)NCBICelera
Cytogenetic Map15q25NCBI
Zic2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495540410,731,987 - 10,735,599 (-)NCBIChiLan1.0ChiLan1.0
ZIC2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.113100,285,212 - 100,289,598 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v01381,151,669 - 81,156,648 (+)NCBIMhudiblu_PPA_v0panPan3
ZIC2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12249,948,743 - 49,952,007 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2249,948,778 - 49,950,055 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2249,729,321 - 49,734,051 (+)NCBI
ROS_Cfam_1.02250,390,470 - 50,395,205 (+)NCBI
UMICH_Zoey_3.12250,040,527 - 50,045,249 (+)NCBI
UNSW_CanFamBas_1.02250,074,149 - 50,078,870 (+)NCBI
UU_Cfam_GSD_1.02250,111,170 - 50,115,894 (+)NCBI
Zic2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945185,347,014 - 185,350,047 (+)NCBI
SpeTri2.0NW_00493647210,599,717 - 10,605,187 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZIC2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1168,840,830 - 68,846,470 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11168,840,802 - 68,845,441 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21176,103,699 - 76,107,978 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ZIC2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1378,631,556 - 78,637,422 (+)NCBI
ChlSab1.1 Ensembl378,631,530 - 78,636,548 (+)Ensembl
Vero_WHO_p1.0NW_02366604635,132,313 - 35,137,417 (+)NCBI
Zic2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462479311,162,835 - 11,167,497 (-)NCBI

Position Markers
RH44495  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713100,638,738 - 100,638,921UniSTSGRCh37
Build 361399,436,739 - 99,436,922RGDNCBI36
Celera1381,483,274 - 81,483,457RGD
Cytogenetic Map13q32UniSTS
HuRef1381,232,250 - 81,232,433UniSTS
GeneMap99-GB4 RH Map13282.82UniSTS
NCBI RH Map13900.1UniSTS
RH80620  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713100,638,737 - 100,638,973UniSTSGRCh37
Build 361399,436,738 - 99,436,974RGDNCBI36
Celera1381,483,273 - 81,483,509RGD
Cytogenetic Map13q32UniSTS
HuRef1381,232,249 - 81,232,485UniSTS
GeneMap99-GB4 RH Map13285.9UniSTS
UniSTS:144841  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713100,638,335 - 100,638,481UniSTSGRCh37
Build 361399,436,336 - 99,436,482RGDNCBI36
Celera1381,482,871 - 81,483,017RGD
HuRef1381,231,847 - 81,231,993UniSTS
D13S1086E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713100,638,008 - 100,638,140UniSTSGRCh37
Build 361399,436,009 - 99,436,141RGDNCBI36
Celera1381,482,544 - 81,482,676RGD
Cytogenetic Map13q32UniSTS
HuRef1381,231,520 - 81,231,652UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1522
Count of miRNA genes:640
Interacting mature miRNAs:730
Transcripts:ENST00000376335, ENST00000468291, ENST00000477213, ENST00000481565, ENST00000490085
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 88 50 30 46 31 199 41 833 25 88 115 5 1
Low 66 15 216 91 85 91 203 13 2057 53 500 170 7 1 37 51 1
Below cutoff 1696 1717 1074 288 739 190 2970 1278 575 129 585 982 99 914 1937

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000376335   ⟹   ENSP00000365514
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1399,981,784 - 99,986,765 (+)Ensembl
RefSeq Acc Id: ENST00000468291
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1399,984,689 - 99,985,492 (+)Ensembl
RefSeq Acc Id: ENST00000477213
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1399,984,789 - 99,985,474 (+)Ensembl
RefSeq Acc Id: ENST00000481565
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1399,985,494 - 99,985,904 (+)Ensembl
RefSeq Acc Id: ENST00000490085
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1399,984,289 - 99,985,492 (+)Ensembl
RefSeq Acc Id: NM_007129   ⟹   NP_009060
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381399,981,784 - 99,986,765 (+)NCBI
GRCh3713100,634,026 - 100,639,019 (+)ENTREZGENE
Build 361399,432,320 - 99,437,020 (+)NCBI Archive
HuRef1381,227,505 - 81,232,531 (+)ENTREZGENE
CHM1_113100,603,892 - 100,608,865 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_009060   ⟸   NM_007129
- UniProtKB: O95409 (UniProtKB/Swiss-Prot),   A0A024RDY6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000365514   ⟸   ENST00000376335
Protein Domains
C2H2-type

Promoters
RGD ID:6791211
Promoter ID:HG_KWN:18415
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   NB4
Transcripts:ENST00000397444,   OTTHUMT00000045618
Position:
Human AssemblyChrPosition (strand)Source
Build 361399,431,696 - 99,433,147 (+)MPROMDB
RGD ID:6791209
Promoter ID:HG_KWN:18416
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   NB4
Transcripts:OTTHUMT00000045619,   OTTHUMT00000045620,   OTTHUMT00000045621,   OTTHUMT00000045622
Position:
Human AssemblyChrPosition (strand)Source
Build 361399,433,559 - 99,434,059 (+)MPROMDB
RGD ID:7226733
Promoter ID:EPDNEW_H19112
Type:initiation region
Name:ZIC2_2
Description:Zic family member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19110  EPDNEW_H19113  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381399,981,200 - 99,981,260EPDNEW
RGD ID:7226735
Promoter ID:EPDNEW_H19113
Type:initiation region
Name:ZIC2_1
Description:Zic family member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19110  EPDNEW_H19112  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381399,981,784 - 99,981,844EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_007129.5(ZIC2):c.37G>C (p.Gly13Arg) single nucleotide variant not provided [RCV000519830] Chr13:99982101 [GRCh38]
Chr13:100634355 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_007129.5(ZIC2):c.-19G>C single nucleotide variant not provided [RCV000521943] Chr13:99982046 [GRCh38]
Chr13:100634300 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_007129.5(ZIC2):c.397_403del (p.Gly133fs) deletion Holoprosencephaly 5 [RCV000023233] Chr13:99982456..99982462 [GRCh38]
Chr13:100634710..100634716 [GRCh37]
Chr13:13q32.3
pathogenic
NM_007129.5(ZIC2):c.857_858del (p.His286fs) microsatellite Holoprosencephaly 5 [RCV000007020] Chr13:99982917..99982918 [GRCh38]
Chr13:100635171..100635172 [GRCh37]
Chr13:13q32.3
pathogenic
NM_007129.5(ZIC2):c.494dup (p.His166fs) duplication not provided [RCV000521792] Chr13:99982557..99982558 [GRCh38]
Chr13:100634811..100634812 [GRCh37]
Chr13:13q32.3
pathogenic
NM_007129.5(ZIC2):c.637C>T (p.Gln213Ter) single nucleotide variant not provided [RCV000521957] Chr13:99982701 [GRCh38]
Chr13:100634955 [GRCh37]
Chr13:13q32.3
pathogenic
NM_007129.4(ZIC2):c.177_178ins56 insertion Holoprosencephaly 5 [RCV000007016] Chr13:99982241..99982242 [GRCh38]
Chr13:100634495..100634496 [GRCh37]
Chr13:13q32.3
pathogenic
NM_007129.5(ZIC2):c.1318dup (p.Leu440fs) duplication Holoprosencephaly 5 [RCV000007017] Chr13:99985400..99985401 [GRCh38]
Chr13:100637654..100637655 [GRCh37]
Chr13:13q32.3
pathogenic
NM_007129.5(ZIC2):c.1366GCN[45] (p.Ala456[15]) microsatellite Holoprosencephaly 5 [RCV000007018] Chr13:99985449..99985451 [GRCh38]
Chr13:100637703..100637705 [GRCh37]
Chr13:13q32.3
pathogenic
NM_007129.5(ZIC2):c.1042_1048del (p.Glu348fs) deletion Holoprosencephaly 5 [RCV000007019] Chr13:99983104..99983110 [GRCh38]
Chr13:100635358..100635364 [GRCh37]
Chr13:13q32.3
pathogenic
GRCh38/hg38 13q31.1-34(chr13:82581008-114327173)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|See cases [RCV000051380] Chr13:82581008..114327173 [GRCh38]
Chr13:83155143..115085141 [GRCh37]
Chr13:82053144..114110750 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q31.3-34(chr13:91366227-114327314)x1 copy number loss See cases [RCV000051418] Chr13:91366227..114327314 [GRCh38]
Chr13:92018481..115085141 [GRCh37]
Chr13:90816482..114110891 [NCBI36]
Chr13:13q31.3-34
pathogenic
GRCh38/hg38 13q32.3-33.1(chr13:99034367-101217397)x1 copy number loss See cases [RCV000051420] Chr13:99034367..101217397 [GRCh38]
Chr13:99686621..101869748 [GRCh37]
Chr13:98484622..100667749 [NCBI36]
Chr13:13q32.3-33.1
pathogenic
GRCh38/hg38 13q31.1-33.2(chr13:82032938-106082542)x3 copy number gain See cases [RCV000051179] Chr13:82032938..106082542 [GRCh38]
Chr13:82607073..106734891 [GRCh37]
Chr13:81505074..105532892 [NCBI36]
Chr13:13q31.1-33.2
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 copy number gain See cases [RCV000053759] Chr13:33528097..114327173 [GRCh38]
Chr13:34102234..115085141 [GRCh37]
Chr13:33000234..114110750 [NCBI36]
Chr13:13q13.2-34
pathogenic
GRCh38/hg38 13q31.3-33.1(chr13:93213623-101537104)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053790]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053790]|See cases [RCV000053790] Chr13:93213623..101537104 [GRCh38]
Chr13:93865876..102189455 [GRCh37]
Chr13:92663877..100987456 [NCBI36]
Chr13:13q31.3-33.1
pathogenic
GRCh38/hg38 13q32.3-34(chr13:99472316-114293545)x3 copy number gain See cases [RCV000053792] Chr13:99472316..114293545 [GRCh38]
Chr13:100124570..115059020 [GRCh37]
Chr13:98922571..114077122 [NCBI36]
Chr13:13q32.3-34
pathogenic
GRCh38/hg38 13q14.11-34(chr13:43219125-114327314)x3 copy number gain See cases [RCV000053762] Chr13:43219125..114327314 [GRCh38]
Chr13:43793261..115085141 [GRCh37]
Chr13:42691261..114110891 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3 copy number gain See cases [RCV000053764] Chr13:44164751..114327173 [GRCh38]
Chr13:44738887..115085141 [GRCh37]
Chr13:43636887..114110750 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3 copy number gain See cases [RCV000053767] Chr13:44733046..114327173 [GRCh38]
Chr13:45307182..115085141 [GRCh37]
Chr13:44205182..114110750 [NCBI36]
Chr13:13q14.12-34
pathogenic
GRCh38/hg38 13q22.1-34(chr13:74345951-114327314)x3 copy number gain See cases [RCV000053770] Chr13:74345951..114327314 [GRCh38]
Chr13:74920088..115085141 [GRCh37]
Chr13:73818089..114110891 [NCBI36]
Chr13:13q22.1-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:80628584-114327173)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|See cases [RCV000053772] Chr13:80628584..114327173 [GRCh38]
Chr13:81202719..115085141 [GRCh37]
Chr13:80100720..114110750 [NCBI36]
Chr13:13q31.1-34
pathogenic
NM_007129.5(ZIC2):c.936del (p.Lys312fs) deletion Holoprosencephaly 5 [RCV000055674] Chr13:99983000 [GRCh38]
Chr13:100635254 [GRCh37]
Chr13:13q32.3
pathogenic
NM_007129.5(ZIC2):c.1091_1092del (p.Gln364fs) deletion Holoprosencephaly 5 [RCV000055679] Chr13:99984961..99984962 [GRCh38]
Chr13:100637215..100637216 [GRCh37]
Chr13:13q32.3
pathogenic
NM_007129.5(ZIC2):c.1059C>T (p.His353=) single nucleotide variant Holoprosencephaly 5 [RCV001511783]|not specified [RCV000081471] Chr13:99983123 [GRCh38]
Chr13:100635377 [GRCh37]
Chr13:13q32.3
benign
NM_007129.5(ZIC2):c.1480_1527del (p.Gly494_Ser509del) deletion not provided [RCV000081472] Chr13:99985551..99985598 [GRCh38]
Chr13:100637805..100637852 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_007129.5(ZIC2):c.692ACC[10] (p.His239dup) microsatellite Holoprosencephaly 5 [RCV001510868]|not specified [RCV000081473] Chr13:99982753..99982754 [GRCh38]
Chr13:100635007..100635008 [GRCh37]
Chr13:13q32.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_007129.5(ZIC2):c.1326C>T (p.Ser442=) single nucleotide variant Holoprosencephaly 5 [RCV000526588]|not specified [RCV000177267] Chr13:99985409 [GRCh38]
Chr13:100637663 [GRCh37]
Chr13:13q32.3
benign
NM_007129.5(ZIC2):c.171G>C (p.Met57Ile) single nucleotide variant not provided [RCV000173416] Chr13:99982235 [GRCh38]
Chr13:100634489 [GRCh37]
Chr13:13q32.3
uncertain significance
GRCh38/hg38 13q32.2-33.1(chr13:98008015-103697232)x3 copy number gain See cases [RCV000133986] Chr13:98008015..103697232 [GRCh38]
Chr13:98660269..104349582 [GRCh37]
Chr13:97458270..103147583 [NCBI36]
Chr13:13q32.2-33.1
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3 copy number gain See cases [RCV000137102] Chr13:88937651..114327173 [GRCh38]
Chr13:89589905..115085141 [GRCh37]
Chr13:88387906..114110750 [NCBI36]
Chr13:13q31.2-34
pathogenic
GRCh38/hg38 13q31.3-33.3(chr13:93345058-109458154)x1 copy number loss See cases [RCV000136688] Chr13:93345058..109458154 [GRCh38]
Chr13:93997311..110110501 [GRCh37]
Chr13:92795312..108908502 [NCBI36]
Chr13:13q31.3-33.3
pathogenic
GRCh38/hg38 13q32.1-33.3(chr13:97213871-109162916)x1 copy number loss See cases [RCV000138024] Chr13:97213871..109162916 [GRCh38]
Chr13:97866125..109815264 [GRCh37]
Chr13:96664126..108613265 [NCBI36]
Chr13:13q32.1-33.3
pathogenic
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 copy number loss See cases [RCV000137893] Chr13:40942298..114340331 [GRCh38]
Chr13:41516434..115085141 [GRCh37]
Chr13:40414434..114123908 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3 copy number gain See cases [RCV000138742] Chr13:78999318..114327106 [GRCh38]
Chr13:79573453..115085141 [GRCh37]
Chr13:78471454..114110683 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q32.3(chr13:99984696-99986321)x3 copy number gain See cases [RCV000138751] Chr13:99984696..99986321 [GRCh38]
Chr13:100636950..100638575 [GRCh37]
Chr13:99434951..99436576 [NCBI36]
Chr13:13q32.3
likely benign
GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1 copy number loss See cases [RCV000138340] Chr13:86788927..114340331 [GRCh38]
Chr13:87441182..115085141 [GRCh37]
Chr13:86239183..114123908 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q32.1-34(chr13:95744855-110863818)x3 copy number gain See cases [RCV000139021] Chr13:95744855..110863818 [GRCh38]
Chr13:96397109..111516165 [GRCh37]
Chr13:95195110..110314166 [NCBI36]
Chr13:13q32.1-34
pathogenic
GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3 copy number gain See cases [RCV000139160] Chr13:96745059..114327106 [GRCh38]
Chr13:97397313..115085141 [GRCh37]
Chr13:96195314..114110683 [NCBI36]
Chr13:13q32.1-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q32.3(chr13:99985302-99986409)x3 copy number gain See cases [RCV000139611] Chr13:99985302..99986409 [GRCh38]
Chr13:100637556..100638663 [GRCh37]
Chr13:99435557..99436664 [NCBI36]
Chr13:13q32.3
likely benign
GRCh38/hg38 13q32.3(chr13:99985302-99986107)x3 copy number gain See cases [RCV000139613] Chr13:99985302..99986107 [GRCh38]
Chr13:100637556..100638361 [GRCh37]
Chr13:99435557..99436362 [NCBI36]
Chr13:13q32.3
likely benign
GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3 copy number gain See cases [RCV000141248] Chr13:78964223..114340331 [GRCh38]
Chr13:79538358..115085141 [GRCh37]
Chr13:78436359..114123908 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3 copy number gain See cases [RCV000141804] Chr13:83288131..114342258 [GRCh38]
Chr13:83862266..115107733 [GRCh37]
Chr13:82760267..114125835 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34
pathogenic
NM_007129.5(ZIC2):c.1497C>G (p.Gly499=) single nucleotide variant not specified [RCV000154161] Chr13:99985580 [GRCh38]
Chr13:100637834 [GRCh37]
Chr13:13q32.3
benign
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
NM_007129.5(ZIC2):c.1245T>G (p.His415Gln) single nucleotide variant Holoprosencephaly 5 [RCV000185543] Chr13:99985328 [GRCh38]
Chr13:100637582 [GRCh37]
Chr13:13q32.3
likely pathogenic
GRCh37/hg19 13q31.2-34(chr13:89796110-115083342)x1 copy number loss See cases [RCV000240161] Chr13:89796110..115083342 [GRCh37]
Chr13:13q31.2-34
pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q32.3(chr13:100621234-100635654)x3 copy number gain See cases [RCV000515595] Chr13:100621234..100635654 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_007129.5(ZIC2):c.692ACC[8] (p.His239del) microsatellite Holoprosencephaly 5 [RCV000612459] Chr13:99982754..99982756 [GRCh38]
Chr13:100635008..100635010 [GRCh37]
Chr13:13q32.3
likely benign
NM_007129.5(ZIC2):c.1239+18G>A single nucleotide variant Holoprosencephaly 5 [RCV001511531]|not specified [RCV000241882] Chr13:99985127 [GRCh38]
Chr13:100637381 [GRCh37]
Chr13:13q32.3
benign
NM_007129.5(ZIC2):c.213G>A (p.Pro71=) single nucleotide variant Holoprosencephaly 5 [RCV000644626]|not specified [RCV000241959] Chr13:99982277 [GRCh38]
Chr13:100634531 [GRCh37]
Chr13:13q32.3
benign
NM_007129.5(ZIC2):c.528C>T (p.Asn176=) single nucleotide variant Holoprosencephaly 5 [RCV000870863]|not specified [RCV000251897] Chr13:99982592 [GRCh38]
Chr13:100634846 [GRCh37]
Chr13:13q32.3
benign
NM_007129.5(ZIC2):c.282G>C (p.Ala94=) single nucleotide variant not specified [RCV000247149] Chr13:99982346 [GRCh38]
Chr13:100634600 [GRCh37]
Chr13:13q32.3
likely benign
NM_007129.5(ZIC2):c.1554G>A (p.Gly518=) single nucleotide variant Holoprosencephaly 5 [RCV000870989]|not specified [RCV000250213] Chr13:99985637 [GRCh38]
Chr13:100637891 [GRCh37]
Chr13:13q32.3
benign|likely benign
NM_007129.5(ZIC2):c.1097dup (p.Phe367fs) duplication not provided [RCV000363727] Chr13:99984966..99984967 [GRCh38]
Chr13:100637220..100637221 [GRCh37]
Chr13:13q32.3
pathogenic
NM_007129.5(ZIC2):c.1392_1406del (p.Ala466_Ala470del) deletion not provided [RCV000360748] Chr13:99985461..99985475 [GRCh38]
Chr13:100637715..100637729 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_007129.5(ZIC2):c.321del (p.Tyr108fs) deletion Holoprosencephaly 5 [RCV000656535] Chr13:99982384 [GRCh38]
Chr13:100634638 [GRCh37]
Chr13:13q32.3
pathogenic
NM_007129.5(ZIC2):c.1076-2A>T single nucleotide variant Holoprosencephaly 5 [RCV000550306] Chr13:99984944 [GRCh38]
Chr13:100637198 [GRCh37]
Chr13:13q32.3
pathogenic
NM_007129.5(ZIC2):c.691_692insCAC (p.His231_His232insPro) insertion Holoprosencephaly 5 [RCV001001591] Chr13:99982754..99982755 [GRCh38]
Chr13:100635008..100635009 [GRCh37]
Chr13:13q32.3
benign
NM_007129.5(ZIC2):c.1076-5C>T single nucleotide variant not specified [RCV000413624] Chr13:99984941 [GRCh38]
Chr13:100637195 [GRCh37]
Chr13:13q32.3
uncertain significance
GRCh37/hg19 13q14.3-33.3(chr13:53551300-109850651)x1 copy number loss See cases [RCV000449272] Chr13:53551300..109850651 [GRCh37]
Chr13:13q14.3-33.3
pathogenic
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)x3 copy number gain See cases [RCV000449118] Chr13:61424168..115107733 [GRCh37]
Chr13:13q21.2-34
pathogenic
NM_007129.5(ZIC2):c.793C>T (p.Gln265Ter) single nucleotide variant Holoprosencephaly 5 [RCV000451172] Chr13:99982857 [GRCh38]
Chr13:100635111 [GRCh37]
Chr13:13q32.3
pathogenic
NM_007129.3:c.1148_1464del deletion Holoprosencephaly 5 [RCV000451766]   pathogenic
NM_007129.5(ZIC2):c.1095_1096del (p.Cys365_Glu366delinsTer) microsatellite Holoprosencephaly 5 [RCV000452804] Chr13:99984962..99984963 [GRCh38]
Chr13:100637216..100637217 [GRCh37]
Chr13:13q32.3
pathogenic
NM_007129.5(ZIC2):c.1097_1098del (p.Glu366fs) deletion Holoprosencephaly 5 [RCV000453235] Chr13:99984966..99984967 [GRCh38]
Chr13:100637220..100637221 [GRCh37]
Chr13:13q32.3
pathogenic|likely pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q31.3-34(chr13:94269729-115107733)x3 copy number gain See cases [RCV000447545] Chr13:94269729..115107733 [GRCh37]
Chr13:13q31.3-34
pathogenic
GRCh37/hg19 13q31.1-34(chr13:82221361-115092569)x3 copy number gain See cases [RCV000447429] Chr13:82221361..115092569 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q21.1-34(chr13:56431743-115107733) copy number gain See cases [RCV000510722] Chr13:56431743..115107733 [GRCh37]
Chr13:13q21.1-34
pathogenic
NM_007129.5(ZIC2):c.627A>G (p.Gln209=) single nucleotide variant not specified [RCV000436365] Chr13:99982691 [GRCh38]
Chr13:100634945 [GRCh37]
Chr13:13q32.3
likely benign
NM_007129.5(ZIC2):c.459G>T (p.Ala153=) single nucleotide variant not specified [RCV000423127] Chr13:99982523 [GRCh38]
Chr13:100634777 [GRCh37]
Chr13:13q32.3
likely benign
GRCh37/hg19 13q32.3(chr13:99910600-100909782) copy number gain See cases [RCV000448013] Chr13:99910600..100909782 [GRCh37]
Chr13:13q32.3
uncertain significance
GRCh37/hg19 13q31.1-33.1(chr13:81851091-102864674)x1 copy number loss See cases [RCV000448988] Chr13:81851091..102864674 [GRCh37]
Chr13:13q31.1-33.1
pathogenic
GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)x1 copy number loss See cases [RCV000448405] Chr13:88073140..115107733 [GRCh37]
Chr13:13q31.2-34
pathogenic
NM_007129.5(ZIC2):c.725_728del (p.Ala242fs) deletion not provided [RCV000482769] Chr13:99982789..99982792 [GRCh38]
Chr13:100635043..100635046 [GRCh37]
Chr13:13q32.3
pathogenic
NM_007129.5(ZIC2):c.1085_1131del (p.Pro362fs) deletion Holoprosencephaly 5 [RCV000500989] Chr13:99984952..99984998 [GRCh38]
Chr13:100637206..100637252 [GRCh37]
Chr13:13q32.3
pathogenic|likely pathogenic
GRCh37/hg19 13q32.1-33.1(chr13:98158452-101950563)x3 copy number gain See cases [RCV000510477] Chr13:98158452..101950563 [GRCh37]
Chr13:13q32.1-33.1
likely pathogenic
GRCh37/hg19 13q32.3-33.1(chr13:100016737-101862895)x1 copy number loss See cases [RCV000510641] Chr13:100016737..101862895 [GRCh37]
Chr13:13q32.3-33.1
pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q31.3-34(chr13:94474530-115107733)x1 copy number loss See cases [RCV000510535] Chr13:94474530..115107733 [GRCh37]
Chr13:13q31.3-34
pathogenic
GRCh37/hg19 13q21.33-34(chr13:71871468-115107733)x4 copy number gain See cases [RCV000510281] Chr13:71871468..115107733 [GRCh37]
Chr13:13q21.33-34
pathogenic
GRCh37/hg19 13q31.1-34(chr13:80058840-115107733)x3 copy number gain See cases [RCV000510566] Chr13:80058840..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q32.2-33.1(chr13:98607855-104370539)x3 copy number gain See cases [RCV000510620] Chr13:98607855..104370539 [GRCh37]
Chr13:13q32.2-33.1
likely pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q31.1-33.3(chr13:80572498-108719528)x1 copy number loss See cases [RCV000510890] Chr13:80572498..108719528 [GRCh37]
Chr13:13q31.1-33.3
pathogenic
GRCh37/hg19 13q32.3(chr13:99333632-100773336)x1 copy number loss See cases [RCV000511270] Chr13:99333632..100773336 [GRCh37]
Chr13:13q32.3
pathogenic
NM_007129.5(ZIC2):c.1377_1406dup (p.Ala461_Ala470dup) duplication Holoprosencephaly 5 [RCV000534469] Chr13:99985448..99985449 [GRCh38]
Chr13:100637702..100637703 [GRCh37]
Chr13:13q32.3
pathogenic
GRCh37/hg19 13q32.1-34(chr13:96586481-115107733)x1 copy number loss See cases [RCV000512257] Chr13:96586481..115107733 [GRCh37]
Chr13:13q32.1-34
pathogenic
GRCh37/hg19 13q31.1-34(chr13:83435292-115107733)x3 copy number gain See cases [RCV000512605] Chr13:83435292..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q31.1-34(chr13:85176519-115107733)x3 copy number gain See cases [RCV000512242] Chr13:85176519..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
NM_007129.5(ZIC2):c.665_676del (p.Gly222_Met225del) deletion not provided [RCV000658452] Chr13:99982718..99982729 [GRCh38]
Chr13:100634972..100634983 [GRCh37]
Chr13:13q32.3
uncertain significance
GRCh37/hg19 13q31.3-33.3(chr13:94703767-109731879)x1 copy number loss not provided [RCV000683570] Chr13:94703767..109731879 [GRCh37]
Chr13:13q31.3-33.3
pathogenic
GRCh37/hg19 13q22.3-34(chr13:78590089-115107733)x3 copy number gain not provided [RCV000683571] Chr13:78590089..115107733 [GRCh37]
Chr13:13q22.3-34
pathogenic
NM_007129.5(ZIC2):c.381_382del (p.Asp128fs) deletion Holoprosencephaly 5 [RCV000681487] Chr13:99982443..99982444 [GRCh38]
Chr13:100634697..100634698 [GRCh37]
Chr13:13q32.3
likely pathogenic
NM_007129.5(ZIC2):c.1229_1234del (p.Lys410_His411del) deletion Holoprosencephaly 5 [RCV000691712] Chr13:99985098..99985103 [GRCh38]
Chr13:100637352..100637357 [GRCh37]
Chr13:13q32.3
likely pathogenic|uncertain significance
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34
pathogenic
NM_007129.5(ZIC2):c.1392T>G (p.Ala464=) single nucleotide variant not provided [RCV000871781] Chr13:99985475 [GRCh38]
Chr13:100637729 [GRCh37]
Chr13:13q32.3
likely benign
Single allele single nucleotide variant not provided [RCV001551940] Chr13:99981741 [GRCh38]
Chr13:100633995 [GRCh37]
Chr13:13q32.3
likely benign
NM_007129.5(ZIC2):c.1398G>T (p.Ala466=) single nucleotide variant not provided [RCV000902812] Chr13:99985481 [GRCh38]
Chr13:100637735 [GRCh37]
Chr13:13q32.3
likely benign
NM_007129.5(ZIC2):c.1314G>A (p.Pro438=) single nucleotide variant Holoprosencephaly 5 [RCV000946226] Chr13:99985397 [GRCh38]
Chr13:100637651 [GRCh37]
Chr13:13q32.3
benign
NM_007129.5(ZIC2):c.1374G>A (p.Ala458=) single nucleotide variant not provided [RCV000904583] Chr13:99985457 [GRCh38]
Chr13:100637711 [GRCh37]
Chr13:13q32.3
likely benign
NM_007129.5(ZIC2):c.546G>T (p.Gly182=) single nucleotide variant Holoprosencephaly 5 [RCV000871014] Chr13:99982610 [GRCh38]
Chr13:100634864 [GRCh37]
Chr13:13q32.3
benign
NM_007129.5(ZIC2):c.855A>G (p.Thr285=) single nucleotide variant Holoprosencephaly 5 [RCV000905275] Chr13:99982919 [GRCh38]
Chr13:100635173 [GRCh37]
Chr13:13q32.3
likely benign
NM_007129.5(ZIC2):c.1347C>T (p.Ser449=) single nucleotide variant Holoprosencephaly 5 [RCV000905355] Chr13:99985430 [GRCh38]
Chr13:100637684 [GRCh37]
Chr13:13q32.3
likely benign
NM_007129.5(ZIC2):c.1158C>T (p.Val386=) single nucleotide variant not provided [RCV000900346] Chr13:99985028 [GRCh38]
Chr13:100637282 [GRCh37]
Chr13:13q32.3
likely benign
NM_007129.5(ZIC2):c.1200_1205del (p.Lys400_Tyr402delinsAsn) deletion Holoprosencephaly 5 [RCV001062325] Chr13:99985069..99985074 [GRCh38]
Chr13:100637323..100637328 [GRCh37]
Chr13:13q32.3
likely pathogenic
NM_007129.5(ZIC2):c.1215del (p.Ser406fs) deletion Holoprosencephaly 5 [RCV000816096] Chr13:99985082 [GRCh38]
Chr13:100637336 [GRCh37]
Chr13:13q32.3
pathogenic|likely pathogenic
NM_007129.5(ZIC2):c.348C>A (p.Thr116=) single nucleotide variant not provided [RCV000930558] Chr13:99982412 [GRCh38]
Chr13:100634666 [GRCh37]
Chr13:13q32.3
likely benign
NM_007129.5(ZIC2):c.1239+8C>T single nucleotide variant not provided [RCV000942211] Chr13:99985117 [GRCh38]
Chr13:100637371 [GRCh37]
Chr13:13q32.3
likely benign
NM_007129.5(ZIC2):c.1086G>C (p.Pro362=) single nucleotide variant not provided [RCV000896359] Chr13:99984956 [GRCh38]
Chr13:100637210 [GRCh37]
Chr13:13q32.3
likely benign
NM_007129.5(ZIC2):c.1240-10T>G single nucleotide variant not provided [RCV000964756] Chr13:99985313 [GRCh38]
Chr13:100637567 [GRCh37]
Chr13:13q32.3
benign
NM_007129.5(ZIC2):c.858C>G (p.His286Gln) single nucleotide variant Holoprosencephaly 5 [RCV000807266] Chr13:99982922 [GRCh38]
Chr13:100635176 [GRCh37]
Chr13:13q32.3
uncertain significance
GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1 copy number loss not provided [RCV001006567] Chr13:53262013..115107733 [GRCh37]
Chr13:13q14.3-34
pathogenic
NM_007129.5(ZIC2):c.1075+213G>A single nucleotide variant not provided [RCV000828750] Chr13:99983352 [GRCh38]
Chr13:100635606 [GRCh37]
Chr13:13q32.3
benign
NM_007129.5(ZIC2):c.1225C>T (p.Arg409Trp) single nucleotide variant Holoprosencephaly sequence [RCV000787361] Chr13:99985095 [GRCh38]
Chr13:100637349 [GRCh37]
Chr13:13q32.3
likely pathogenic
NM_007129.5:c.264T>G single nucleotide variant Neurodevelopmental disorder [RCV000787433] Chr13:13q32.3 likely pathogenic
GRCh37/hg19 13q31.3-34(chr13:94849303-115107733)x3 copy number gain not provided [RCV000847710] Chr13:94849303..115107733 [GRCh37]
Chr13:13q31.3-34
uncertain significance
NM_007129.5(ZIC2):c.*954T>A single nucleotide variant Holoprosencephaly 1 [RCV000850070] Chr13:99986636 [GRCh38]
Chr13:100638890 [GRCh37]
Chr13:13q32.3
likely pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
NM_007129.5(ZIC2):c.1317del (p.Leu440fs) deletion Holoprosencephaly 5 [RCV001001046] Chr13:99985397 [GRCh38]
Chr13:100637651 [GRCh37]
Chr13:13q32.3
pathogenic
NM_007129.5(ZIC2):c.22C>T (p.Gln8Ter) single nucleotide variant not provided [RCV001008699] Chr13:99982086 [GRCh38]
Chr13:100634340 [GRCh37]
Chr13:13q32.3
likely pathogenic
GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3 copy number gain not provided [RCV000848025] Chr13:61775567..115107733 [GRCh37]
Chr13:13q21.2-34
pathogenic
NM_007129.5(ZIC2):c.973C>A (p.Arg325Ser) single nucleotide variant not provided [RCV001546412] Chr13:99983037 [GRCh38]
Chr13:100635291 [GRCh37]
Chr13:13q32.3
likely pathogenic
NM_007129.5(ZIC2):c.1302G>A (p.Ser434=) single nucleotide variant not provided [RCV000909880] Chr13:99985385 [GRCh38]
Chr13:100637639 [GRCh37]
Chr13:13q32.3
likely benign
NM_007129.5(ZIC2):c.1494C>A (p.Gly498=) single nucleotide variant Holoprosencephaly 5 [RCV000872508] Chr13:99985577 [GRCh38]
Chr13:100637831 [GRCh37]
Chr13:13q32.3
likely benign
NM_007129.5(ZIC2):c.552C>T (p.Pro184=) single nucleotide variant Holoprosencephaly 5 [RCV001458222]|not provided [RCV000887517] Chr13:99982616 [GRCh38]
Chr13:100634870 [GRCh37]
Chr13:13q32.3
likely benign
NM_007129.5(ZIC2):c.420G>A (p.Gly140=) single nucleotide variant not provided [RCV000887548] Chr13:99982484 [GRCh38]
Chr13:100634738 [GRCh37]
Chr13:13q32.3
likely benign
NM_007129.5(ZIC2):c.1221G>A (p.Ser407=) single nucleotide variant not provided [RCV000884873] Chr13:99985091 [GRCh38]
Chr13:100637345 [GRCh37]
Chr13:13q32.3
likely benign
NM_007129.5(ZIC2):c.1497C>T (p.Gly499=) single nucleotide variant Holoprosencephaly 5 [RCV000951953] Chr13:99985580 [GRCh38]
Chr13:100637834 [GRCh37]
Chr13:13q32.3
likely benign
NM_007129.5(ZIC2):c.879C>T (p.Gly293=) single nucleotide variant not provided [RCV000951985] Chr13:99982943 [GRCh38]
Chr13:100635197 [GRCh37]
Chr13:13q32.3
likely benign
NM_007129.5(ZIC2):c.876C>G (p.Val292=) single nucleotide variant not provided [RCV000940592] Chr13:99982940 [GRCh38]
Chr13:100635194 [GRCh37]
Chr13:13q32.3
likely benign
NM_007129.5(ZIC2):c.1019G>C (p.Cys340Ser) single nucleotide variant Holoprosencephaly 5 [RCV001218967] Chr13:99983083 [GRCh38]
Chr13:100635337 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_007129.5(ZIC2):c.914A>T (p.Glu305Val) single nucleotide variant Holoprosencephaly 5 [RCV001196246] Chr13:99982978 [GRCh38]
Chr13:100635232 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_007129.5(ZIC2):c.39G>A (p.Gly13=) single nucleotide variant not provided [RCV000889426] Chr13:99982103 [GRCh38]
Chr13:100634357 [GRCh37]
Chr13:13q32.3
likely benign
NM_007129.5(ZIC2):c.*166_*170dup duplication not provided [RCV001556896] Chr13:99985836..99985837 [GRCh38]
Chr13:100638090..100638091 [GRCh37]
Chr13:13q32.3
likely benign
GRCh37/hg19 13q32.1-34(chr13:96895656-115107733)x1 copy number loss not provided [RCV001006591] Chr13:96895656..115107733 [GRCh37]
Chr13:13q32.1-34
pathogenic
NC_000013.11:g.(?_99385979)_(99986648_?)del deletion Holoprosencephaly 5 [RCV001031194] Chr13:100038233..100638902 [GRCh37]
Chr13:13q32.3
pathogenic
NM_007129.5(ZIC2):c.526A>T (p.Asn176Tyr) single nucleotide variant not provided [RCV001092082] Chr13:99982590 [GRCh38]
Chr13:100634844 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_007129.5(ZIC2):c.418G>C (p.Gly140Arg) single nucleotide variant Holoprosencephaly 5 [RCV001197614] Chr13:99982482 [GRCh38]
Chr13:100634736 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_007129.5(ZIC2):c.1096G>A (p.Glu366Lys) single nucleotide variant Holoprosencephaly 5 [RCV001220269] Chr13:99984966 [GRCh38]
Chr13:100637220 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_007129.5(ZIC2):c.1377_1382dup (p.Ala469_Ala470dup) duplication Holoprosencephaly 5 [RCV001246265] Chr13:99985454..99985455 [GRCh38]
Chr13:100637708..100637709 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_007129.5(ZIC2):c.230_236delinsCA (p.Phe77fs) indel Holoprosencephaly 5 [RCV001247060] Chr13:99982294..99982300 [GRCh38]
Chr13:100634548..100634554 [GRCh37]
Chr13:13q32.3
pathogenic
NM_007129.5(ZIC2):c.716A>C (p.His239Pro) single nucleotide variant Holoprosencephaly 5 [RCV001198331] Chr13:99982780 [GRCh38]
Chr13:100635034 [GRCh37]
Chr13:13q32.3
uncertain significance
GRCh37/hg19 13q32.1-33.2(chr13:96240346-106103782)x1 copy number loss not provided [RCV001006589] Chr13:96240346..106103782 [GRCh37]
Chr13:13q32.1-33.2
pathogenic
NM_007129.5(ZIC2):c.983C>T (p.Thr328Ile) single nucleotide variant Holoprosencephaly 5 [RCV001230765] Chr13:99983047 [GRCh38]
Chr13:100635301 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_007129.5(ZIC2):c.1058_1059delinsCT (p.His353Pro) indel Holoprosencephaly 5 [RCV001233781] Chr13:99983122..99983123 [GRCh38]
Chr13:100635376..100635377 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_007129.5(ZIC2):c.692ACC[6] (p.His237_His239del) microsatellite Holoprosencephaly 5 [RCV001298838]|not provided [RCV001529343] Chr13:99982754..99982762 [GRCh38]
Chr13:100635008..100635016 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_007129.5(ZIC2):c.450C>G (p.His150Gln) single nucleotide variant Holoprosencephaly 5 [RCV001349001] Chr13:99982514 [GRCh38]
Chr13:100634768 [GRCh37]
Chr13:13q32.3
uncertain significance
Single allele deletion Anal atresia, hypospadias, and penoscrotal inversion [RCV001391677] Chr13:94679977..111536145 [GRCh37]
Chr13:13q31.3-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34
pathogenic
NM_007129.5(ZIC2):c.673A>G (p.Met225Val) single nucleotide variant Holoprosencephaly 5 [RCV001297104] Chr13:99982737 [GRCh38]
Chr13:100634991 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_007129.5(ZIC2):c.157G>C (p.Ala53Pro) single nucleotide variant Holoprosencephaly 5 [RCV001358922] Chr13:99982221 [GRCh38]
Chr13:100634475 [GRCh37]
Chr13:13q32.3
uncertain significance
NC_000013.10:g.(?_92002837)_(103343314_?)del deletion Holoprosencephaly 5 [RCV001388033] Chr13:92002837..103343314 [GRCh37]
Chr13:13q31.3-33.1
pathogenic
NM_007129.5(ZIC2):c.744G>A (p.Arg248=) single nucleotide variant Holoprosencephaly 5 [RCV001450190] Chr13:99982808 [GRCh38]
Chr13:100635062 [GRCh37]
Chr13:13q32.3
likely benign
NM_007129.5(ZIC2):c.522G>T (p.Val174=) single nucleotide variant Holoprosencephaly 5 [RCV001475205] Chr13:99982586 [GRCh38]
Chr13:100634840 [GRCh37]
Chr13:13q32.3
likely benign
NM_007129.5(ZIC2):c.1497C>A (p.Gly499=) single nucleotide variant Holoprosencephaly 5 [RCV001492572] Chr13:99985580 [GRCh38]
Chr13:100637834 [GRCh37]
Chr13:13q32.3
likely benign
NM_007129.5(ZIC2):c.1076-304T>C single nucleotide variant not provided [RCV001536989] Chr13:99984642 [GRCh38]
Chr13:100636896 [GRCh37]
Chr13:13q32.3
likely benign
NM_007129.5(ZIC2):c.1392T>C (p.Ala464=) single nucleotide variant Holoprosencephaly 5 [RCV001500036] Chr13:99985475 [GRCh38]
Chr13:100637729 [GRCh37]
Chr13:13q32.3
likely benign
NM_007129.5(ZIC2):c.973C>T (p.Arg325Cys) single nucleotide variant Holoprosencephaly 5 [RCV001386365] Chr13:99983037 [GRCh38]
Chr13:100635291 [GRCh37]
Chr13:13q32.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12873 AgrOrtholog
COSMIC ZIC2 COSMIC
Ensembl Genes ENSG00000043355 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000365514 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000376335 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000043355 GTEx
HGNC ID HGNC:12873 ENTREZGENE
Human Proteome Map ZIC2 Human Proteome Map
InterPro Znf_C2H2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_ZIC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7546 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 7546 ENTREZGENE
OMIM 603073 OMIM
  609637 OMIM
Pfam zf-C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf_ZIC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37462 PharmGKB
PROSITE ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ZnF_C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57667 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024RDY6 ENTREZGENE, UniProtKB/TrEMBL
  O95409 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q5VYA9 UniProtKB/Swiss-Prot
  Q9H309 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-08-17 ZIC2  Zic family member 2  ZIC2  Zic family member 2  Symbol and/or name change 5135510 APPROVED
2011-07-27 ZIC2  Zic family member 2  ZIC2  Zic family member 2 (odd-paired homolog, Drosophila)  Symbol and/or name change 5135510 APPROVED