ZIC3 (Zic family member 3) - Rat Genome Database

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Gene: ZIC3 (Zic family member 3) Homo sapiens
Analyze
Symbol: ZIC3
Name: Zic family member 3
RGD ID: 1347201
HGNC Page HGNC
Description: Exhibits DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in determination of left/right symmetry; lung development; and positive regulation of transcription by RNA polymerase II. Localizes to nucleoplasm. Implicated in X-linked VACTERL association; situs inversus; and visceral heterotaxy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: heterotaxy 1; HTX; HTX1; VACTERLX; Zic family member 3 (odd-paired homolog, Drosophila); zinc finger protein 203; zinc finger protein of the cerebellum 3; zinc finger protein ZIC 3; ZNF203
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 EnsemblX137,566,127 - 137,577,691 (+)EnsemblGRCh38hg38GRCh38
GRCh38X137,566,127 - 137,577,691 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X136,648,286 - 136,659,850 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X136,476,012 - 136,481,925 (+)NCBINCBI36hg18NCBI36
Build 34X136,373,865 - 136,379,777NCBI
CeleraX137,014,356 - 137,020,269 (+)NCBI
Cytogenetic MapXq26.3NCBI
HuRefX125,916,990 - 125,922,902 (+)NCBIHuRef
CHM1_1X136,559,744 - 136,565,657 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (ISS)
nucleoplasm  (IDA,TAS)
nucleus  (IBA,ISS)

References

Additional References at PubMed
PMID:7747776   PMID:8298651   PMID:8889548   PMID:10861288   PMID:11076863   PMID:11238441   PMID:12477932   PMID:12522805   PMID:12963115   PMID:14679585   PMID:14681828   PMID:14985256  
PMID:15470371   PMID:15489334   PMID:15772651   PMID:17185387   PMID:17295247   PMID:17468179   PMID:17764085   PMID:18716025   PMID:21069353   PMID:21858219   PMID:21864452   PMID:21873635  
PMID:22171628   PMID:23427188   PMID:23872418   PMID:24123890   PMID:25402006   PMID:26294094   PMID:26498524   PMID:26687479   PMID:27406248   PMID:27821535   PMID:28473536   PMID:29180619  
PMID:29442328   PMID:30120289   PMID:30297839   PMID:30898623  


Genomics

Comparative Map Data
ZIC3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX137,566,127 - 137,577,691 (+)EnsemblGRCh38hg38GRCh38
GRCh38X137,566,127 - 137,577,691 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X136,648,286 - 136,659,850 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X136,476,012 - 136,481,925 (+)NCBINCBI36hg18NCBI36
Build 34X136,373,865 - 136,379,777NCBI
CeleraX137,014,356 - 137,020,269 (+)NCBI
Cytogenetic MapXq26.3NCBI
HuRefX125,916,990 - 125,922,902 (+)NCBIHuRef
CHM1_1X136,559,744 - 136,565,657 (+)NCBICHM1_1
Zic3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X57,075,988 - 57,081,990 (+)NCBIGRCm39mm39
GRCm39 EnsemblX57,068,060 - 57,087,096 (+)Ensembl
GRCm38X58,030,628 - 58,036,630 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX58,022,700 - 58,041,736 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X55,283,805 - 55,289,807 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X54,377,427 - 54,382,686 (+)NCBImm8
CeleraX44,504,773 - 44,510,775 (+)NCBICelera
Cytogenetic MapXA6NCBI
cM MapX32.56NCBI
Zic3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X136,123,662 - 136,134,295 (+)NCBI
Rnor_6.0 EnsemblX140,878,216 - 140,888,795 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X140,875,191 - 140,888,344 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X140,918,894 - 140,931,861 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X143,128,118 - 143,139,155 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX132,262,545 - 132,272,607 (+)NCBICelera
Cytogenetic MapXq36NCBI
Zic3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554897,560,684 - 7,571,892 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554897,560,684 - 7,571,739 (-)NCBIChiLan1.0ChiLan1.0
ZIC3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X136,954,024 - 136,968,240 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX136,954,024 - 136,967,819 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X126,691,534 - 126,705,788 (+)NCBIMhudiblu_PPA_v0panPan3
ZIC3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X107,822,002 - 107,833,582 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX107,821,948 - 107,833,597 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX93,648,940 - 93,660,520 (+)NCBI
ROS_Cfam_1.0X109,807,663 - 109,819,246 (+)NCBI
UMICH_Zoey_3.1X106,941,593 - 106,953,174 (+)NCBI
UNSW_CanFamBas_1.0X109,131,179 - 109,142,752 (+)NCBI
UU_Cfam_GSD_1.0X108,775,722 - 108,787,305 (+)NCBI
Zic3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X105,821,756 - 105,833,208 (+)NCBI
SpeTri2.0NW_0049365139,780,895 - 9,792,865 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZIC3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX112,592,953 - 112,604,068 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X112,592,951 - 112,605,087 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X128,551,482 - 128,563,009 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ZIC3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X112,597,329 - 112,609,411 (+)NCBI
ChlSab1.1 EnsemblX112,598,466 - 112,601,803 (+)Ensembl
Zic3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248089,201,025 - 9,212,192 (-)NCBI

Position Markers
stSG20553  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X136,654,351 - 136,654,507UniSTSGRCh37
Build 36X136,482,017 - 136,482,173RGDNCBI36
CeleraX137,020,361 - 137,020,517RGD
Cytogenetic MapXq26.2UniSTS
HuRefX125,922,994 - 125,923,150UniSTS
ZIC3_2181  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X136,653,040 - 136,653,858UniSTSGRCh37
Build 36X136,480,706 - 136,481,524RGDNCBI36
CeleraX137,019,050 - 137,019,868RGD
HuRefX125,921,684 - 125,922,502UniSTS
ZIC3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X136,653,203 - 136,653,347UniSTSGRCh37
CeleraX137,019,213 - 137,019,357UniSTS
HuRefX125,921,847 - 125,921,991UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR155hsa-miR-155-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI19177201

Predicted Target Of
Summary Value
Count of predictions:733
Count of miRNA genes:564
Interacting mature miRNAs:610
Transcripts:ENST00000287538, ENST00000370606, ENST00000478471
Prediction methods:Miranda, Pita, 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 adipose tissue appendage
High
Medium 6 181 3 470 7 13
Low 2 253 3 1 2 11 11 2003 13 336 37 1 2 4
Below cutoff 629 879 372 72 264 43 1707 536 757 84 408 441 30 463 1102

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000287538   ⟹   ENSP00000287538
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX137,566,127 - 137,572,102 (+)Ensembl
RefSeq Acc Id: ENST00000370606   ⟹   ENSP00000359638
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX137,566,518 - 137,577,691 (+)Ensembl
RefSeq Acc Id: ENST00000478471
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX137,568,805 - 137,569,995 (+)Ensembl
RefSeq Acc Id: NM_001330661   ⟹   NP_001317590
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X137,566,127 - 137,577,691 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003413   ⟹   NP_003404
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X137,566,127 - 137,572,102 (+)NCBI
GRCh37X136,648,346 - 136,654,259 (+)ENTREZGENE
Build 36X136,476,012 - 136,481,925 (+)NCBI Archive
HuRefX125,916,990 - 125,922,902 (+)ENTREZGENE
CHM1_1X136,559,744 - 136,565,657 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003404   ⟸   NM_003413
- Peptide Label: isoform 1
- UniProtKB: O60481 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001317590   ⟸   NM_001330661
- Peptide Label: isoform 2
- UniProtKB: O60481 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000359638   ⟸   ENST00000370606
RefSeq Acc Id: ENSP00000287538   ⟸   ENST00000287538

Promoters
RGD ID:13628232
Promoter ID:EPDNEW_H29390
Type:initiation region
Name:ZIC3_2
Description:Zic family member 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29391  EPDNEW_H29392  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X137,564,298 - 137,564,358EPDNEW
RGD ID:13628230
Promoter ID:EPDNEW_H29391
Type:initiation region
Name:ZIC3_1
Description:Zic family member 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29390  EPDNEW_H29392  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X137,566,130 - 137,566,190EPDNEW
RGD ID:13628234
Promoter ID:EPDNEW_H29392
Type:initiation region
Name:ZIC3_3
Description:Zic family member 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29391  EPDNEW_H29390  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X137,566,520 - 137,566,580EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
ZIC3, 2-BP INS, 1507TT insertion Heterotaxy, visceral, 1, X-linked [RCV000012193] ChrX:Xq26.2 pathogenic
NM_003413.4(ZIC3):c.163_165GCC[3] (p.Ala54_Ala55dup) microsatellite VACTERL association, X-linked, with or without hydrocephalus [RCV000022847] ChrX:137566853..137566854 [GRCh38]
ChrX:136649012..136649013 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_003413.4(ZIC3):c.968C>T (p.Thr323Met) single nucleotide variant Heterotaxy, visceral, 1, X-linked [RCV000012186] ChrX:137567659 [GRCh38]
ChrX:136649818 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_003413.4(ZIC3):c.804C>A (p.Cys268Ter) single nucleotide variant Heterotaxy, visceral, 1, X-linked [RCV000012187] ChrX:137567495 [GRCh38]
ChrX:136649654 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_003413.4(ZIC3):c.1222A>T (p.Lys408Ter) single nucleotide variant Congenital heart defects, multiple types, 1, X-linked [RCV000012188] ChrX:137569063 [GRCh38]
ChrX:136651222 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_003413.4(ZIC3):c.745C>T (p.Gln249Ter) single nucleotide variant Heterotaxy, visceral, 1, X-linked [RCV000012189] ChrX:137567436 [GRCh38]
ChrX:136649595 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_003413.4(ZIC3):c.758G>C (p.Cys253Ser) single nucleotide variant Heterotaxy, visceral, 1, X-linked [RCV000012190] ChrX:137567449 [GRCh38]
ChrX:136649608 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_003413.4(ZIC3):c.1213A>G (p.Lys405Glu) single nucleotide variant Heterotaxy, visceral, 1, X-linked [RCV000012191] ChrX:137569054 [GRCh38]
ChrX:136651213 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_003413.4(ZIC3):c.649C>G (p.Pro217Ala) single nucleotide variant Congenital heart defects 1, nonsyndromic, 1 [RCV000370424]|Congenital heart defects, multiple types, 1, X-linked [RCV000012192]|Heterotaxy, visceral, 1, X-linked [RCV000275713]|VACTERL association, X-linked, with or without hydrocephalus [RCV000326072]|not provided [RCV000514533]|not specified [RCV000126382] ChrX:137567340 [GRCh38]
ChrX:136649499 [GRCh37]
ChrX:Xq26.3
pathogenic|benign|likely benign|uncertain significance
NM_003413.4(ZIC3):c.763T>G (p.Trp255Gly) single nucleotide variant Heterotaxy, visceral, 1, X-linked [RCV000012194] ChrX:137567454 [GRCh38]
ChrX:136649613 [GRCh37]
ChrX:Xq26.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq26.3-27.1(chrX:136522136-140417943)x2 copy number gain See cases [RCV000052469] ChrX:136522136..140417943 [GRCh38]
ChrX:135604295..139500108 [GRCh37]
ChrX:135431961..139327774 [NCBI36]
ChrX:Xq26.3-27.1
pathogenic
GRCh38/hg38 Xq26.3(chrX:136613664-137581772)x3 copy number gain See cases [RCV000052470] ChrX:136613664..137581772 [GRCh38]
ChrX:135695823..136663931 [GRCh37]
ChrX:135523489..136491597 [NCBI36]
ChrX:Xq26.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003413.4(ZIC3):c.162T>C (p.Ala54=) single nucleotide variant Heterotaxy, visceral, 1, X-linked [RCV000476035]|not specified [RCV000126381] ChrX:137566853 [GRCh38]
ChrX:136649012 [GRCh37]
ChrX:Xq26.3
benign
NM_003413.4(ZIC3):c.861G>A (p.Val287=) single nucleotide variant Heterotaxy, visceral, 1, X-linked [RCV000230404]|not specified [RCV000126383] ChrX:137567552 [GRCh38]
ChrX:136649711 [GRCh37]
ChrX:Xq26.3
benign
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_003413.4(ZIC3):c.326C>G (p.Ser109Cys) single nucleotide variant Heterotaxy, visceral, 1, X-linked [RCV001348649] ChrX:137567017 [GRCh38]
ChrX:136649176 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28
pathogenic|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3 copy number gain See cases [RCV000138145] ChrX:117260292..140201321 [GRCh38]
ChrX:116394255..139283477 [GRCh37]
ChrX:116278283..139111143 [NCBI36]
ChrX:Xq23-27.1
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_003413.4(ZIC3):c.1194G>T (p.Thr398=) single nucleotide variant not provided [RCV000175749] ChrX:137569035 [GRCh38]
ChrX:136651194 [GRCh37]
ChrX:Xq26.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003413.4(ZIC3):c.1179C>T (p.Cys393=) single nucleotide variant not provided [RCV000175750] ChrX:137569020 [GRCh38]
ChrX:136651179 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003413.3(ZIC3):c.(?_-1)_(*1_?)del deletion Heterotaxy, visceral, 1, X-linked [RCV000197456] ChrX:Xq26.3 pathogenic
NM_003413.4(ZIC3):c.49G>T (p.Gly17Cys) single nucleotide variant Congenital heart defects 1, nonsyndromic, 1 [RCV000360572]|Heterotaxy, visceral, 1, X-linked [RCV000198780]|VACTERL association, X-linked, with or without hydrocephalus [RCV000201846]|not specified [RCV000248648] ChrX:137566740 [GRCh38]
ChrX:136648899 [GRCh37]
ChrX:Xq26.3
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003413.4(ZIC3):c.135_137CGC[6] (p.Ala53_Ala55del) microsatellite not provided [RCV000543613] ChrX:137566826..137566834 [GRCh38]
ChrX:136648985..136648993 [GRCh37]
ChrX:Xq26.3
benign
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_003413.4(ZIC3):c.764G>C (p.Trp255Ser) single nucleotide variant Heterotaxy, visceral, 1, X-linked [RCV000258959] ChrX:137567455 [GRCh38]
ChrX:136649614 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_003413.3(ZIC3):c.-505-?_*2030+?dup duplication Heterotaxy, visceral, 1, X-linked [RCV000233873]   uncertain significance
NM_003413.4(ZIC3):c.912G>A (p.Arg304=) single nucleotide variant not provided [RCV000234394]|not specified [RCV000253727] ChrX:137567603 [GRCh38]
ChrX:136649762 [GRCh37]
ChrX:Xq26.3
benign
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003413.4(ZIC3):c.630C>T (p.Tyr210=) single nucleotide variant not specified [RCV000253615] ChrX:137567321 [GRCh38]
ChrX:136649480 [GRCh37]
ChrX:Xq26.3
likely benign
NM_003413.4(ZIC3):c.135_137CGC[10] (p.Ala55dup) microsatellite Heterotaxy, visceral, 1, X-linked [RCV001084923]|not provided [RCV000824720]|not specified [RCV000251685] ChrX:137566825..137566826 [GRCh38]
ChrX:136648984..136648985 [GRCh37]
ChrX:Xq26.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003413.4(ZIC3):c.128C>A (p.Ser43Ter) single nucleotide variant Heterotaxy, visceral, 1, X-linked [RCV000754889] ChrX:137566819 [GRCh38]
ChrX:136648978 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_003413.4(ZIC3):c.593_609del (p.Pro198fs) deletion Heterotaxy, visceral, 1, X-linked [RCV000754890] ChrX:137567282..137567298 [GRCh38]
ChrX:136649441..136649457 [GRCh37]
ChrX:Xq26.3
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003413.4(ZIC3):c.783G>A (p.Leu261=) single nucleotide variant not specified [RCV000245439] ChrX:137567474 [GRCh38]
ChrX:136649633 [GRCh37]
ChrX:Xq26.3
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003413.4(ZIC3):c.*1540G>A single nucleotide variant Congenital heart defects 1, nonsyndromic, 1 [RCV000371410]|Heterotaxy, visceral, 1, X-linked [RCV000323790]|VACTERL association, X-linked, with or without hydrocephalus [RCV000285322] ChrX:137571610 [GRCh38]
ChrX:136653769 [GRCh37]
ChrX:Xq26.3
likely benign|uncertain significance
NM_003413.4(ZIC3):c.131C>G (p.Thr44Ser) single nucleotide variant Congenital heart defects 1, nonsyndromic, 1 [RCV000274738]|Heterotaxy, visceral, 1, X-linked [RCV000355474]|VACTERL association, X-linked, with or without hydrocephalus [RCV000329757] ChrX:137566822 [GRCh38]
ChrX:136648981 [GRCh37]
ChrX:Xq26.3
likely benign|uncertain significance
NM_003413.4(ZIC3):c.*1189A>G single nucleotide variant Congenital heart defects 1, nonsyndromic, 1 [RCV000269010]|Heterotaxy, visceral, 1, X-linked [RCV000364731]|VACTERL association, X-linked, with or without hydrocephalus [RCV000326395] ChrX:137571259 [GRCh38]
ChrX:136653418 [GRCh37]
ChrX:Xq26.3
benign|likely benign
NM_003413.4(ZIC3):c.*1237A>T single nucleotide variant Congenital heart defects 1, nonsyndromic, 1 [RCV000272400]|Heterotaxy, visceral, 1, X-linked [RCV000377339]|VACTERL association, X-linked, with or without hydrocephalus [RCV000320508] ChrX:137571307 [GRCh38]
ChrX:136653466 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_003413.4(ZIC3):c.*1171_*1173del deletion Congenital heart defects 1, nonsyndromic, 1 [RCV000369849]|Heterotaxy, visceral, 1, X-linked [RCV000402387]|VACTERL association, X-linked, with or without hydrocephalus [RCV000315114] ChrX:137571241..137571243 [GRCh38]
ChrX:136653400..136653402 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_003413.4(ZIC3):c.*1715A>G single nucleotide variant Congenital heart defects 1, nonsyndromic, 1 [RCV000397270]|Heterotaxy, visceral, 1, X-linked [RCV000279299]|VACTERL association, X-linked, with or without hydrocephalus [RCV000336742] ChrX:137571785 [GRCh38]
ChrX:136653944 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_003413.4(ZIC3):c.*489A>G single nucleotide variant Congenital heart defects 1, nonsyndromic, 1 [RCV000398018]|Heterotaxy, visceral, 1, X-linked [RCV000334730]|VACTERL association, X-linked, with or without hydrocephalus [RCV000279785] ChrX:137570559 [GRCh38]
ChrX:136652718 [GRCh37]
ChrX:Xq26.3
benign|likely benign
NM_003413.4(ZIC3):c.*41A>G single nucleotide variant Congenital heart defects 1, nonsyndromic, 1 [RCV000377698]|Heterotaxy, visceral, 1, X-linked [RCV000283049]|VACTERL association, X-linked, with or without hydrocephalus [RCV000342724] ChrX:137570111 [GRCh38]
ChrX:136652270 [GRCh37]
ChrX:Xq26.3
benign|likely benign
NM_003413.4(ZIC3):c.832C>T (p.Leu278=) single nucleotide variant not provided [RCV000349145] ChrX:137567523 [GRCh38]
ChrX:136649682 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_003413.4(ZIC3):c.906C>T (p.Cys302=) single nucleotide variant Congenital heart defects 1, nonsyndromic, 1 [RCV000291067]|Heterotaxy, visceral, 1, X-linked [RCV000380783]|VACTERL association, X-linked, with or without hydrocephalus [RCV000327705] ChrX:137567597 [GRCh38]
ChrX:136649756 [GRCh37]
ChrX:Xq26.3
benign|likely benign
NM_003413.4(ZIC3):c.1025del (p.Ser342fs) deletion not provided [RCV000371226] ChrX:137567716 [GRCh38]
ChrX:136649875 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_003413.4(ZIC3):c.*2024G>C single nucleotide variant Congenital heart defects 1, nonsyndromic, 1 [RCV000294271]|Heterotaxy, visceral, 1, X-linked [RCV000351497]|VACTERL association, X-linked, with or without hydrocephalus [RCV000397261] ChrX:137572094 [GRCh38]
ChrX:136654253 [GRCh37]
ChrX:Xq26.3
benign|likely benign
NM_003413.4(ZIC3):c.*798_*802del deletion Congenital heart defects 1, nonsyndromic, 1 [RCV000401459]|Heterotaxy, visceral, 1, X-linked [RCV000368535]|VACTERL association, X-linked, with or without hydrocephalus [RCV000299821] ChrX:137570864..137570868 [GRCh38]
ChrX:136653023..136653027 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_003413.4(ZIC3):c.-479C>T single nucleotide variant Congenital heart defects 1, nonsyndromic, 1 [RCV000340786]|Heterotaxy, visceral, 1, X-linked [RCV000305791]|VACTERL association, X-linked, with or without hydrocephalus [RCV000399858] ChrX:137566213 [GRCh38]
ChrX:136648372 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_003413.4(ZIC3):c.98C>T (p.Ala33Val) single nucleotide variant Heterotaxy, visceral, 1, X-linked [RCV000640719] ChrX:137566789 [GRCh38]
ChrX:136648948 [GRCh37]
ChrX:Xq26.3
likely benign
NM_003413.4(ZIC3):c.75C>G (p.His25Gln) single nucleotide variant Inborn genetic diseases [RCV000624165] ChrX:137566766 [GRCh38]
ChrX:136648925 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_003413.4(ZIC3):c.270C>T (p.His90=) single nucleotide variant not provided [RCV000591132] ChrX:137566961 [GRCh38]
ChrX:136649120 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.3(chrX:136533974-137532427)x2 copy number gain See cases [RCV000447477] ChrX:136533974..137532427 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_003413.4(ZIC3):c.135_137CGC[11] (p.Ala54_Ala55dup) microsatellite Heterotaxy, visceral, 1, X-linked [RCV000470529] ChrX:137566825..137566826 [GRCh38]
ChrX:136648984..136648985 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_003413.4(ZIC3):c.19G>C (p.Gly7Arg) single nucleotide variant not provided [RCV000479375] ChrX:137566710 [GRCh38]
ChrX:136648869 [GRCh37]
ChrX:Xq26.3
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_003413.4(ZIC3):c.476_479del (p.Tyr159fs) deletion Heterotaxy, visceral, 1, X-linked [RCV000540603] ChrX:137567166..137567169 [GRCh38]
ChrX:136649325..136649328 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_003413.4(ZIC3):c.1069C>A (p.Pro357Thr) single nucleotide variant Heterotaxy, visceral, 1, X-linked [RCV000530572] ChrX:137568910 [GRCh38]
ChrX:136651069 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
NM_003413.4(ZIC3):c.1248T>G (p.Asp416Glu) single nucleotide variant Heterotaxy, visceral, 1, X-linked [RCV000640718] ChrX:137569914 [GRCh38]
ChrX:136652073 [GRCh37]
ChrX:Xq26.3
benign
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq26.3-27.1(chrX:136399075-139504489)x1 copy number loss not provided [RCV000684394] ChrX:136399075..139504489 [GRCh37]
ChrX:Xq26.3-27.1
uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3 copy number gain not provided [RCV000684377] ChrX:117998704..140159954 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:120777368-139345946)x1 copy number loss not provided [RCV000684380] ChrX:120777368..139345946 [GRCh37]
ChrX:Xq24-27.1
pathogenic
NM_003413.4(ZIC3):c.135_137CGC[8] (p.Ala55del) microsatellite Heterotaxy, visceral, 1, X-linked [RCV000694874] ChrX:137566826..137566828 [GRCh38]
ChrX:136649009..136649011 [GRCh37]
ChrX:Xq26.3
conflicting interpretations of pathogenicity|uncertain significance
NM_003413.4(ZIC3):c.1050G>C (p.Arg350Ser) single nucleotide variant Heterotaxy, visceral, 1, X-linked [RCV000687841] ChrX:137567741 [GRCh38]
ChrX:136649900 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_003413.4(ZIC3):c.882C>G (p.Asn294Lys) single nucleotide variant Heterotaxy, visceral, 1, X-linked [RCV000690871] ChrX:137567573 [GRCh38]
ChrX:136649732 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_003413.4(ZIC3):c.535dup (p.Val179fs) duplication Heterotaxy, visceral, 1, X-linked [RCV000691248] ChrX:137567225..137567226 [GRCh38]
ChrX:136649384..136649385 [GRCh37]
ChrX:Xq26.3
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_003413.4(ZIC3):c.958C>T (p.Arg320Ter) single nucleotide variant Heterotaxy, visceral, 1, X-linked [RCV001007872] ChrX:137567649 [GRCh38]
ChrX:136649808 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_003413.4(ZIC3):c.755C>A (p.Ser252Ter) single nucleotide variant Heterotaxy, visceral, 1, X-linked [RCV000754887] ChrX:137567446 [GRCh38]
ChrX:136649605 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_003413.4(ZIC3):c.757T>A (p.Cys253Ser) single nucleotide variant Heterotaxy, visceral, 1, X-linked [RCV000754888] ChrX:137567448 [GRCh38]
ChrX:136649607 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_003413.4(ZIC3):c.420C>T (p.Phe140=) single nucleotide variant not provided [RCV000878934] ChrX:137567111 [GRCh38]
ChrX:136649270 [GRCh37]
ChrX:Xq26.3
benign
NM_003413.4(ZIC3):c.1162T>G (p.Tyr388Asp) single nucleotide variant not provided [RCV000996029] ChrX:137569003 [GRCh38]
ChrX:136651162 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_003413.4(ZIC3):c.1161del (p.Tyr388fs) deletion Heterotaxy, visceral, 1, X-linked [RCV001057870] ChrX:137569000 [GRCh38]
ChrX:136651159 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NM_003413.4(ZIC3):c.135_137CGC[7] (p.Ala54_Ala55del) microsatellite Heterotaxy, visceral, 1, X-linked [RCV000822519] ChrX:137566826..137566831 [GRCh38]
ChrX:136648985..136648990 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003413.4(ZIC3):c.*1581G>A single nucleotide variant Heterotaxy, visceral, 1, X-linked [RCV001166977]|VACTERL association, X-linked, with or without hydrocephalus [RCV001166978] ChrX:137571651 [GRCh38]
ChrX:136653810 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_003413.4(ZIC3):c.*750A>G single nucleotide variant Heterotaxy, visceral, 1, X-linked [RCV001166442]|VACTERL association, X-linked, with or without hydrocephalus [RCV001166443] ChrX:137570820 [GRCh38]
ChrX:136652979 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_003413.4(ZIC3):c.116C>T (p.Pro39Leu) single nucleotide variant Heterotaxy, visceral, 1, X-linked [RCV001166909]|VACTERL association, X-linked, with or without hydrocephalus [RCV001166908] ChrX:137566807 [GRCh38]
ChrX:136648966 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_003413.4(ZIC3):c.-424C>A single nucleotide variant Heterotaxy, visceral, 1, X-linked [RCV001166384]|VACTERL association, X-linked, with or without hydrocephalus [RCV001166383] ChrX:137566268 [GRCh38]
ChrX:136648427 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_003413.4(ZIC3):c.-335C>T single nucleotide variant Heterotaxy, visceral, 1, X-linked [RCV001166386]|VACTERL association, X-linked, with or without hydrocephalus [RCV001166385] ChrX:137566357 [GRCh38]
ChrX:136648516 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_003413.4(ZIC3):c.-169A>C single nucleotide variant Heterotaxy, visceral, 1, X-linked [RCV001166387]|VACTERL association, X-linked, with or without hydrocephalus [RCV001166907] ChrX:137566523 [GRCh38]
ChrX:136648682 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_003413.4(ZIC3):c.571del (p.Glu191fs) deletion Heterotaxy, visceral, 1, X-linked [RCV000800000] ChrX:137567259 [GRCh38]
ChrX:136649418 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_003413.4(ZIC3):c.*1362T>G single nucleotide variant Heterotaxy, visceral, 1, X-linked [RCV001166444]|VACTERL association, X-linked, with or without hydrocephalus [RCV001166974] ChrX:137571432 [GRCh38]
ChrX:136653591 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003413.4(ZIC3):c.18C>T (p.Asp6=) single nucleotide variant not provided [RCV000932580] ChrX:137566709 [GRCh38]
ChrX:136648868 [GRCh37]
ChrX:Xq26.3
likely benign
NM_003413.4(ZIC3):c.141C>T (p.Ala47=) single nucleotide variant not provided [RCV000873433] ChrX:137566832 [GRCh38]
ChrX:136648991 [GRCh37]
ChrX:Xq26.3
likely benign
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_003413.4(ZIC3):c.508_514del (p.Ala170fs) deletion Heterotaxy, visceral, 1, X-linked [RCV001223598] ChrX:137567195..137567201 [GRCh38]
ChrX:136649354..136649360 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_003413.4(ZIC3):c.668A>G (p.Asn223Ser) single nucleotide variant Heterotaxy, visceral, 1, X-linked [RCV001168623]|VACTERL association, X-linked, with or without hydrocephalus [RCV001168622] ChrX:137567359 [GRCh38]
ChrX:136649518 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_003413.4(ZIC3):c.*26T>C single nucleotide variant Heterotaxy, visceral, 1, X-linked [RCV001168624]|VACTERL association, X-linked, with or without hydrocephalus [RCV001169385] ChrX:137570096 [GRCh38]
ChrX:136652255 [GRCh37]
ChrX:Xq26.3
benign|uncertain significance
NM_003413.4(ZIC3):c.607G>A (p.Ala203Thr) single nucleotide variant Heterotaxy, visceral, 1, X-linked [RCV001168621]|VACTERL association, X-linked, with or without hydrocephalus [RCV001166910] ChrX:137567298 [GRCh38]
ChrX:136649457 [GRCh37]
ChrX:Xq26.3
benign|likely benign
NM_003413.4(ZIC3):c.128C>G (p.Ser43Ter) single nucleotide variant Heterotaxy, visceral, 1, X-linked [RCV001057896] ChrX:137566819 [GRCh38]
ChrX:136648978 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_003413.4(ZIC3):c.*153A>G single nucleotide variant Heterotaxy, visceral, 1, X-linked [RCV001169387]|VACTERL association, X-linked, with or without hydrocephalus [RCV001169386] ChrX:137570223 [GRCh38]
ChrX:136652382 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_003413.4(ZIC3):c.1184_1192del (p.Lys395_Tyr397del) deletion Heterotaxy, visceral, 1, X-linked [RCV001232636] ChrX:137569022..137569030 [GRCh38]
ChrX:136651181..136651189 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_003413.4(ZIC3):c.92A>T (p.Glu31Val) single nucleotide variant Heterotaxy, visceral, 1, X-linked [RCV001235634] ChrX:137566783 [GRCh38]
ChrX:136648942 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_003413.4(ZIC3):c.*260T>C single nucleotide variant Heterotaxy, visceral, 1, X-linked [RCV001169388]|VACTERL association, X-linked, with or without hydrocephalus [RCV001169389] ChrX:137570330 [GRCh38]
ChrX:136652489 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_003413.4(ZIC3):c.984C>G (p.Phe328Leu) single nucleotide variant Heterotaxy, visceral, 1, X-linked [RCV001204790] ChrX:137567675 [GRCh38]
ChrX:136649834 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_003413.4(ZIC3):c.*1492T>C single nucleotide variant Heterotaxy, visceral, 1, X-linked [RCV001166975]|VACTERL association, X-linked, with or without hydrocephalus [RCV001166976] ChrX:137571562 [GRCh38]
ChrX:136653721 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_003413.4(ZIC3):c.1211G>T (p.Arg404Leu) single nucleotide variant Heterotaxy, visceral, 1, X-linked [RCV001319815] ChrX:137569052 [GRCh38]
ChrX:136651211 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_003413.4(ZIC3):c.105G>A (p.Met35Ile) single nucleotide variant Heterotaxy, visceral, 1, X-linked [RCV001336036] ChrX:137566796 [GRCh38]
ChrX:136648955 [GRCh37]
ChrX:Xq26.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12874 AgrOrtholog
COSMIC ZIC3 COSMIC
Ensembl Genes ENSG00000156925 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000287538 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000359638 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000287538 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000370606 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000156925 GTEx
HGNC ID HGNC:12874 ENTREZGENE
Human Proteome Map ZIC3 Human Proteome Map
InterPro Znf_C2H2_sf UniProtKB/Swiss-Prot
  Znf_C2H2_type UniProtKB/Swiss-Prot
  Znf_ZIC UniProtKB/Swiss-Prot
KEGG Report hsa:7547 UniProtKB/Swiss-Prot
NCBI Gene 7547 ENTREZGENE
OMIM 300265 OMIM
  306955 OMIM
  314390 OMIM
Pfam zf-C2H2 UniProtKB/Swiss-Prot
  zf_ZIC UniProtKB/Swiss-Prot
PharmGKB PA37463 PharmGKB
PROSITE ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot
SMART ZnF_C2H2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF57667 UniProtKB/Swiss-Prot
UniProt O60481 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2CNW4 UniProtKB/Swiss-Prot
  Q14DE5 UniProtKB/Swiss-Prot
  Q5JY75 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-08-17 ZIC3  Zic family member 3  ZIC3  Zic family member 3  Symbol and/or name change 5135510 APPROVED
2011-07-27 ZIC3  Zic family member 3  ZIC3  Zic family member 3 (odd-paired homolog, Drosophila)  Symbol and/or name change 5135510 APPROVED