ZFHX4 (zinc finger homeobox 4) - Rat Genome Database

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Gene: ZFHX4 (zinc finger homeobox 4) Homo sapiens
Analyze
Symbol: ZFHX4
Name: zinc finger homeobox 4
RGD ID: 1346362
HGNC Page HGNC:30939
Description: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. Predicted to be active in nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ16514; FLJ20980; ZFH-4; ZFH4; ZHF4; zinc finger homeobox protein 4; zinc finger homeodomain protein 4; zinc-finger homeodomain protein 4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38876,681,247 - 76,867,281 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl876,681,239 - 76,867,281 (+)EnsemblGRCh38hg38GRCh38
GRCh37877,593,482 - 77,779,517 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36877,756,070 - 77,942,076 (+)NCBINCBI36Build 36hg18NCBI36
Build 34877,778,834 - 77,940,711NCBI
Celera873,586,882 - 73,772,899 (+)NCBICelera
Cytogenetic Map8q21.13NCBI
HuRef873,079,827 - 73,265,620 (+)NCBIHuRef
CHM1_1877,645,108 - 77,831,116 (+)NCBICHM1_1
T2T-CHM13v2.0877,110,392 - 77,296,418 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
calcitriol  (EXP)
casticin  (ISO)
CGP 52608  (EXP)
chloroprene  (ISO)
cisplatin  (EXP)
clobetasol  (ISO)
crotonaldehyde  (EXP)
Cuprizon  (ISO)
cytarabine  (EXP)
dexamethasone  (EXP)
dichloromethane  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
epoxiconazole  (ISO)
folic acid  (EXP,ISO)
FR900359  (EXP)
fulvestrant  (EXP)
geldanamycin  (EXP)
indole-3-methanol  (ISO)
indometacin  (EXP)
ketamine  (ISO)
melphalan  (EXP)
mercury atom  (ISO)
mercury(0)  (ISO)
methotrexate  (EXP)
methylmercury chloride  (EXP)
N-acetyl-L-cysteine  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
oxaliplatin  (ISO)
paracetamol  (ISO)
PCB138  (ISO)
perfluorooctane-1-sulfonic acid  (EXP)
phenobarbital  (ISO)
potassium chromate  (EXP)
propiconazole  (ISO)
SB 431542  (EXP)
silicon dioxide  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (ISO)
Soman  (ISO)
succimer  (ISO)
sunitinib  (EXP)
temozolomide  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triptonide  (ISO)
troglitazone  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
chromatin  (ISA)
nucleus  (IBA,IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:10873665   PMID:11935336   PMID:12477932   PMID:14702039   PMID:16344560   PMID:16946494   PMID:18029348   PMID:18391951   PMID:19274049   PMID:19913121   PMID:20379614   PMID:20546612  
PMID:20628086   PMID:21873635   PMID:23667531   PMID:23667675   PMID:24440720   PMID:25609649   PMID:25855136   PMID:26167880   PMID:28514442   PMID:28694483   PMID:28977666   PMID:29365100  
PMID:29844126   PMID:30021884   PMID:31753913   PMID:32105524   PMID:32744500   PMID:33660365   PMID:33961781   PMID:34709266   PMID:34780483   PMID:35016035   PMID:35140242   PMID:35915456  
PMID:38297188  


Genomics

Comparative Map Data
ZFHX4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38876,681,247 - 76,867,281 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl876,681,239 - 76,867,281 (+)EnsemblGRCh38hg38GRCh38
GRCh37877,593,482 - 77,779,517 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36877,756,070 - 77,942,076 (+)NCBINCBI36Build 36hg18NCBI36
Build 34877,778,834 - 77,940,711NCBI
Celera873,586,882 - 73,772,899 (+)NCBICelera
Cytogenetic Map8q21.13NCBI
HuRef873,079,827 - 73,265,620 (+)NCBIHuRef
CHM1_1877,645,108 - 77,831,116 (+)NCBICHM1_1
T2T-CHM13v2.0877,110,392 - 77,296,418 (+)NCBIT2T-CHM13v2.0
Zfhx4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3935,276,268 - 5,480,921 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl35,283,586 - 5,480,917 (+)EnsemblGRCm39 Ensembl
GRCm3835,218,218 - 5,415,861 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl35,218,526 - 5,415,857 (+)EnsemblGRCm38mm10GRCm38
MGSCv3735,218,554 - 5,415,855 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3635,224,745 - 5,397,584 (+)NCBIMGSCv36mm8
Celera35,302,820 - 5,500,317 (+)NCBICelera
Cytogenetic Map3A1NCBI
cM Map31.96NCBI
Zfhx4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8298,131,996 - 98,321,070 (-)NCBIGRCr8
mRatBN7.2296,224,763 - 96,408,245 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl296,224,767 - 96,408,228 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2102,769,126 - 102,952,321 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02100,890,220 - 101,073,413 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0295,941,374 - 96,124,613 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0298,423,565 - 98,610,368 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl298,423,569 - 98,610,368 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02118,157,856 - 118,345,227 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4298,549,509 - 98,734,901 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera291,739,962 - 91,923,160 (-)NCBICelera
Cytogenetic Map2q23NCBI
Zfhx4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554443,938,830 - 4,116,076 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554443,938,830 - 4,116,076 (-)NCBIChiLan1.0ChiLan1.0
ZFHX4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2792,415,091 - 92,601,929 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1868,043,186 - 68,229,782 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0873,206,659 - 73,392,531 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1874,844,366 - 75,030,190 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl874,844,374 - 75,030,190 (+)Ensemblpanpan1.1panPan2
ZFHX4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12924,689,152 - 24,849,048 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2924,667,180 - 24,846,270 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2924,929,902 - 25,111,936 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02924,779,377 - 24,961,780 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2924,781,333 - 24,959,003 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12924,878,361 - 25,037,052 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02924,895,008 - 25,053,849 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02925,247,073 - 25,406,115 (+)NCBIUU_Cfam_GSD_1.0
Zfhx4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530354,302,796 - 54,487,818 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049367021,694,685 - 1,872,942 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZFHX4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl459,387,007 - 59,575,073 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1459,384,202 - 59,580,913 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2464,861,519 - 65,053,217 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ZFHX4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1872,206,263 - 72,396,852 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl872,208,282 - 72,396,818 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603968,883,502 - 69,071,916 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Zfhx4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474414,400,990 - 14,597,276 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474414,401,079 - 14,597,220 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ZFHX4
311 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.11-21.13(chr8:73519300-82655582)x1 copy number loss See cases [RCV000051117] Chr8:73519300..82655582 [GRCh38]
Chr8:74431535..83567817 [GRCh37]
Chr8:74594089..83730372 [NCBI36]
Chr8:8q21.11-21.13		 pathogenic
GRCh38/hg38 8q21.13(chr8:75021712-78044590)x3 copy number gain See cases [RCV000052184] Chr8:75021712..78044590 [GRCh38]
Chr8:75933947..78956825 [GRCh37]
Chr8:76096502..79119380 [NCBI36]
Chr8:8q21.13		 uncertain significance
GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3 copy number gain See cases [RCV000053653] Chr8:57361243..79170078 [GRCh38]
Chr8:58273802..80082313 [GRCh37]
Chr8:58436356..80244868 [NCBI36]
Chr8:8q12.1-21.13		 pathogenic
GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3 copy number gain See cases [RCV000053654] Chr8:61691800..82537696 [GRCh38]
Chr8:62604359..83449931 [GRCh37]
Chr8:62766913..83612486 [NCBI36]
Chr8:8q12.3-21.13		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.11-21.2(chr8:73879385-85611466)x1 copy number loss See cases [RCV000054259] Chr8:73879385..85611466 [GRCh38]
Chr8:74791620..86523695 [GRCh37]
Chr8:74954174..86710947 [NCBI36]
Chr8:8q21.11-21.2		 pathogenic
NM_024721.4(ZFHX4):c.4G>A (p.Glu2Lys) single nucleotide variant Malignant melanoma [RCV000068395] Chr8:76704092 [GRCh38]
Chr8:77616327 [GRCh37]
Chr8:77778882 [NCBI36]
Chr8:8q21.13		 not provided
NM_024721.4(ZFHX4):c.6A>T (p.Glu2Asp) single nucleotide variant Malignant melanoma [RCV000068396] Chr8:76704094 [GRCh38]
Chr8:77616329 [GRCh37]
Chr8:77778884 [NCBI36]
Chr8:8q21.13		 not provided
NM_024721.4(ZFHX4):c.1022C>T (p.Ser341Phe) single nucleotide variant Malignant melanoma [RCV000068397] Chr8:76705110 [GRCh38]
Chr8:77617345 [GRCh37]
Chr8:77779900 [NCBI36]
Chr8:8q21.13		 not provided
NM_024721.4(ZFHX4):c.1397C>T (p.Pro466Leu) single nucleotide variant Malignant melanoma [RCV000068398] Chr8:76705485 [GRCh38]
Chr8:77617720 [GRCh37]
Chr8:77780275 [NCBI36]
Chr8:8q21.13		 not provided
NM_024721.4(ZFHX4):c.1398C>T (p.Pro466=) single nucleotide variant Malignant melanoma [RCV000068399] Chr8:76705486 [GRCh38]
Chr8:77617721 [GRCh37]
Chr8:77780276 [NCBI36]
Chr8:8q21.13		 not provided
NM_024721.4(ZFHX4):c.3093+88G>A single nucleotide variant Malignant melanoma [RCV000068400] Chr8:76708136 [GRCh38]
Chr8:77620371 [GRCh37]
Chr8:77782926 [NCBI36]
Chr8:8q21.13		 not provided
NM_024721.4(ZFHX4):c.4674C>T (p.Val1558=) single nucleotide variant Malignant melanoma [RCV000068401] Chr8:76851595 [GRCh38]
Chr8:77763831 [GRCh37]
Chr8:77926386 [NCBI36]
Chr8:8q21.13		 not provided
NM_024721.4(ZFHX4):c.4723G>A (p.Glu1575Lys) single nucleotide variant Malignant melanoma [RCV000068402] Chr8:76851644 [GRCh38]
Chr8:77763880 [GRCh37]
Chr8:77926435 [NCBI36]
Chr8:8q21.13		 not provided
NM_024721.5(ZFHX4):c.5101G>A (p.Glu1701Lys) single nucleotide variant not specified [RCV004485949] Chr8:76852022 [GRCh38]
Chr8:77764258 [GRCh37]
Chr8:77926813 [NCBI36]
Chr8:8q21.13		 uncertain significance|not provided
NM_024721.4(ZFHX4):c.6480G>A (p.Gln2160=) single nucleotide variant Malignant melanoma [RCV000068404] Chr8:76853401 [GRCh38]
Chr8:77765637 [GRCh37]
Chr8:77928192 [NCBI36]
Chr8:8q21.13		 not provided
NM_024721.4(ZFHX4):c.7738A>T (p.Arg2580Trp) single nucleotide variant Malignant melanoma [RCV000068405] Chr8:76854659 [GRCh38]
Chr8:77766895 [GRCh37]
Chr8:77929450 [NCBI36]
Chr8:8q21.13		 not provided
NM_024721.4(ZFHX4):c.9263C>T (p.Ser3088Phe) single nucleotide variant Malignant melanoma [RCV000068406] Chr8:76856184 [GRCh38]
Chr8:77768420 [GRCh37]
Chr8:77930975 [NCBI36]
Chr8:8q21.13		 not provided
NM_024721.4(ZFHX4):c.9921G>A (p.Leu3307=) single nucleotide variant Malignant melanoma [RCV000068407] Chr8:76863635 [GRCh38]
Chr8:77775871 [GRCh37]
Chr8:77938426 [NCBI36]
Chr8:8q21.13		 not provided
NM_024721.4(ZFHX4):c.10123G>A (p.Glu3375Lys) single nucleotide variant Malignant melanoma [RCV000068408] Chr8:76863837 [GRCh38]
Chr8:77776073 [GRCh37]
Chr8:77938628 [NCBI36]
Chr8:8q21.13		 not provided
NM_024721.4(ZFHX4):c.10655C>T (p.Ser3552Leu) single nucleotide variant Malignant melanoma [RCV000068409] Chr8:76864369 [GRCh38]
Chr8:77776605 [GRCh37]
Chr8:77939160 [NCBI36]
Chr8:8q21.13		 not provided
NM_024721.4(ZFHX4):c.3093+8224T>C single nucleotide variant Lung cancer [RCV000107712] Chr8:76716272 [GRCh38]
Chr8:77628507 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.4(ZFHX4):c.3093+19178C>G single nucleotide variant Lung cancer [RCV000107713] Chr8:76727226 [GRCh38]
Chr8:77639462 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.4(ZFHX4):c.3326-21457G>C single nucleotide variant Lung cancer [RCV000107714] Chr8:76811881 [GRCh38]
Chr8:77724117 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.4(ZFHX4):c.3326-19425T>C single nucleotide variant Lung cancer [RCV000107715] Chr8:76813913 [GRCh38]
Chr8:77726149 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.4(ZFHX4):c.3326-10711G>A single nucleotide variant Lung cancer [RCV000107716] Chr8:76822627 [GRCh38]
Chr8:77734863 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.3965-1G>A single nucleotide variant Neurodevelopmental disorder [RCV001195431] Chr8:76850885 [GRCh38]
Chr8:77763121 [GRCh37]
Chr8:8q21.13		 likely pathogenic
GRCh38/hg38 8q21.13(chr8:74905308-81339951)x1 copy number loss See cases [RCV000133719] Chr8:74905308..81339951 [GRCh38]
Chr8:75817543..82252186 [GRCh37]
Chr8:75980098..82414741 [NCBI36]
Chr8:8q21.13		 pathogenic
GRCh38/hg38 8q21.13(chr8:76115629-78506009)x1 copy number loss See cases [RCV000135389] Chr8:76115629..78506009 [GRCh38]
Chr8:77027864..79418244 [GRCh37]
Chr8:77190419..79580799 [NCBI36]
Chr8:8q21.13		 uncertain significance
GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3 copy number gain See cases [RCV000137050] Chr8:66171669..93505509 [GRCh38]
Chr8:67083904..94517737 [GRCh37]
Chr8:67246458..94586913 [NCBI36]
Chr8:8q13.1-22.1		 pathogenic
GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3 copy number gain See cases [RCV000138027] Chr8:66633845..80100089 [GRCh38]
Chr8:67546080..81012324 [GRCh37]
Chr8:67708634..81174879 [NCBI36]
Chr8:8q13.1-21.13		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q13.3-21.13(chr8:70971013-82019151)x3 copy number gain See cases [RCV000240367] Chr8:70971013..82019151 [GRCh37]
Chr8:8q13.3-21.13		 likely pathogenic
NM_024721.5(ZFHX4):c.8712A>G (p.Ile2904Met) single nucleotide variant not specified [RCV004322281] Chr8:76855633 [GRCh38]
Chr8:77767869 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.4763C>G (p.Thr1588Arg) single nucleotide variant not specified [RCV004307489] Chr8:76851684 [GRCh38]
Chr8:77763920 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.3341del (p.Gly1114fs) deletion not provided [RCV000599373] Chr8:76833351 [GRCh38]
Chr8:77745587 [GRCh37]
Chr8:8q21.13		 uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.11-21.13(chr8:75197438-81685526)x1 copy number loss See cases [RCV000445718] Chr8:75197438..81685526 [GRCh37]
Chr8:8q21.11-21.13		 pathogenic
NM_024721.5(ZFHX4):c.5362G>A (p.Val1788Ile) single nucleotide variant not provided [RCV000509205]|not specified [RCV004023452] Chr8:76852283 [GRCh38]
Chr8:77764519 [GRCh37]
Chr8:8q21.13		 uncertain significance|not provided
NM_024721.5(ZFHX4):c.7316C>G (p.Pro2439Arg) single nucleotide variant not provided [RCV000509494] Chr8:76854237 [GRCh38]
Chr8:77766473 [GRCh37]
Chr8:8q21.13		 not provided
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.11-21.13(chr8:77751515-83516216)x1 copy number loss See cases [RCV000511429] Chr8:77751515..83516216 [GRCh37]
Chr8:8q21.11-21.13		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_024721.5(ZFHX4):c.73A>G (p.Thr25Ala) single nucleotide variant not specified [RCV004306317] Chr8:76704161 [GRCh38]
Chr8:77616396 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.7255T>G (p.Ser2419Ala) single nucleotide variant not specified [RCV004309150] Chr8:76854176 [GRCh38]
Chr8:77766412 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.3514A>T (p.Ile1172Leu) single nucleotide variant not specified [RCV004330100] Chr8:76848997 [GRCh38]
Chr8:77761233 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.4121T>C (p.Leu1374Pro) single nucleotide variant not specified [RCV004288599] Chr8:76851042 [GRCh38]
Chr8:77763278 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.5416A>G (p.Thr1806Ala) single nucleotide variant not specified [RCV004288600] Chr8:76852337 [GRCh38]
Chr8:77764573 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.6078G>T (p.Lys2026Asn) single nucleotide variant not specified [RCV004317932] Chr8:76852999 [GRCh38]
Chr8:77765235 [GRCh37]
Chr8:8q21.13		 uncertain significance
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
GRCh37/hg19 8q21.11-21.13(chr8:74942333-80413867)x1 copy number loss not provided [RCV000683031] Chr8:74942333..80413867 [GRCh37]
Chr8:8q21.11-21.13		 pathogenic
GRCh37/hg19 8q21.11-21.12(chr8:77345003-79544235)x1 copy number loss not provided [RCV000683018] Chr8:77345003..79544235 [GRCh37]
Chr8:8q21.11-21.12		 pathogenic
NM_024721.5(ZFHX4):c.9858C>G (p.Tyr3286Ter) single nucleotide variant not provided [RCV001531083] Chr8:76863572 [GRCh38]
Chr8:77775808 [GRCh37]
Chr8:8q21.13		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_024721.5(ZFHX4):c.5316C>G (p.Gly1772=) single nucleotide variant ZFHX4-related disorder [RCV003975655]|not provided [RCV000893740] Chr8:76852237 [GRCh38]
Chr8:77764473 [GRCh37]
Chr8:8q21.13		 benign|likely benign
NM_024721.5(ZFHX4):c.2094C>T (p.Pro698=) single nucleotide variant not provided [RCV000896921] Chr8:76706182 [GRCh38]
Chr8:77618417 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.3924A>G (p.Thr1308=) single nucleotide variant not provided [RCV000919633] Chr8:76850322 [GRCh38]
Chr8:77762558 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.437A>T (p.Lys146Ile) single nucleotide variant not specified [RCV004317860] Chr8:76704525 [GRCh38]
Chr8:77616760 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.4963T>G (p.Leu1655Val) single nucleotide variant not provided [RCV000973422] Chr8:76851884 [GRCh38]
Chr8:77764120 [GRCh37]
Chr8:8q21.13		 benign
NM_024721.5(ZFHX4):c.7145G>A (p.Ser2382Asn) single nucleotide variant not provided [RCV000973423] Chr8:76854066 [GRCh38]
Chr8:77766302 [GRCh37]
Chr8:8q21.13		 benign
NM_024721.5(ZFHX4):c.3732G>A (p.Pro1244=) single nucleotide variant not provided [RCV000947117] Chr8:76849598 [GRCh38]
Chr8:77761834 [GRCh37]
Chr8:8q21.13		 benign
NM_024721.5(ZFHX4):c.192C>T (p.Phe64=) single nucleotide variant not provided [RCV000973699] Chr8:76704280 [GRCh38]
Chr8:77616515 [GRCh37]
Chr8:8q21.13		 benign
NM_024721.5(ZFHX4):c.2010G>T (p.Pro670=) single nucleotide variant not provided [RCV000982769] Chr8:76706098 [GRCh38]
Chr8:77618333 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.5327A>G (p.Glu1776Gly) single nucleotide variant Ptosis, hereditary congenital, 1 [RCV002505409]|not provided [RCV000948804] Chr8:76852248 [GRCh38]
Chr8:77764484 [GRCh37]
Chr8:8q21.13		 benign|likely benign
NM_024721.5(ZFHX4):c.6132A>C (p.Pro2044=) single nucleotide variant not provided [RCV000949526] Chr8:76853053 [GRCh38]
Chr8:77765289 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.10541C>G (p.Thr3514Ser) single nucleotide variant not provided [RCV000926080] Chr8:76864255 [GRCh38]
Chr8:77776491 [GRCh37]
Chr8:8q21.13		 benign|likely benign
NM_024721.5(ZFHX4):c.5929G>T (p.Ala1977Ser) single nucleotide variant not provided [RCV000901632] Chr8:76852850 [GRCh38]
Chr8:77765086 [GRCh37]
Chr8:8q21.13		 benign
NM_024721.5(ZFHX4):c.10536T>C (p.Asn3512=) single nucleotide variant not provided [RCV000983383] Chr8:76864250 [GRCh38]
Chr8:77776486 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.4027G>A (p.Val1343Ile) single nucleotide variant not provided [RCV000949745] Chr8:76850948 [GRCh38]
Chr8:77763184 [GRCh37]
Chr8:8q21.13		 benign
NM_024721.5(ZFHX4):c.7647A>G (p.Gly2549=) single nucleotide variant not provided [RCV000972452] Chr8:76854568 [GRCh38]
Chr8:77766804 [GRCh37]
Chr8:8q21.13		 benign
NM_024721.5(ZFHX4):c.4916C>T (p.Ala1639Val) single nucleotide variant ZFHX4-related disorder [RCV003970860]|not provided [RCV000965776] Chr8:76851837 [GRCh38]
Chr8:77764073 [GRCh37]
Chr8:8q21.13		 benign
NM_024721.5(ZFHX4):c.9849G>A (p.Gln3283=) single nucleotide variant not provided [RCV000902537] Chr8:76863563 [GRCh38]
Chr8:77775799 [GRCh37]
Chr8:8q21.13		 benign
NM_024721.5(ZFHX4):c.3150C>T (p.Ala1050=) single nucleotide variant ZFHX4-related disorder [RCV003955941]|not provided [RCV000888117] Chr8:76778264 [GRCh38]
Chr8:77690500 [GRCh37]
Chr8:8q21.13		 benign
NM_024721.5(ZFHX4):c.7437G>A (p.Met2479Ile) single nucleotide variant not provided [RCV000961871] Chr8:76854358 [GRCh38]
Chr8:77766594 [GRCh37]
Chr8:8q21.13		 benign
NM_024721.5(ZFHX4):c.826C>T (p.Pro276Ser) single nucleotide variant not specified [RCV004291313] Chr8:76704914 [GRCh38]
Chr8:77617149 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.9055C>T (p.Arg3019Cys) single nucleotide variant not specified [RCV004282399] Chr8:76855976 [GRCh38]
Chr8:77768212 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.9756T>C (p.Gly3252=) single nucleotide variant not provided [RCV000958988] Chr8:76863470 [GRCh38]
Chr8:77775706 [GRCh37]
Chr8:8q21.13		 benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_024721.5(ZFHX4):c.3444C>T (p.Ala1148=) single nucleotide variant not provided [RCV000896521] Chr8:76842704 [GRCh38]
Chr8:77754940 [GRCh37]
Chr8:8q21.13		 benign
NM_024721.5(ZFHX4):c.10284C>T (p.Phe3428=) single nucleotide variant not provided [RCV000892100] Chr8:76863998 [GRCh38]
Chr8:77776234 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.1762C>A (p.Pro588Thr) single nucleotide variant not provided [RCV001200308] Chr8:76705850 [GRCh38]
Chr8:77618085 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.5889T>A (p.Ser1963Arg) single nucleotide variant not specified [RCV004322231] Chr8:76852810 [GRCh38]
Chr8:77765046 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.5569G>A (p.Glu1857Lys) single nucleotide variant not specified [RCV004304991] Chr8:76852490 [GRCh38]
Chr8:77764726 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.921C>G (p.Asp307Glu) single nucleotide variant not specified [RCV004295962] Chr8:76705009 [GRCh38]
Chr8:77617244 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.3213T>C (p.His1071=) single nucleotide variant Ptosis, hereditary congenital, 1 [RCV002243445]|not provided [RCV001714559] Chr8:76778327 [GRCh38]
Chr8:77690563 [GRCh37]
Chr8:8q21.13		 benign
NM_024721.5(ZFHX4):c.9036C>T (p.Cys3012=) single nucleotide variant not provided [RCV000916385] Chr8:76855957 [GRCh38]
Chr8:77768193 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.9792A>G (p.Pro3264=) single nucleotide variant not provided [RCV000963647] Chr8:76863506 [GRCh38]
Chr8:77775742 [GRCh37]
Chr8:8q21.13		 benign
NM_024721.5(ZFHX4):c.10305A>G (p.Pro3435=) single nucleotide variant not provided [RCV000938730] Chr8:76864019 [GRCh38]
Chr8:77776255 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.490G>A (p.Ala164Thr) single nucleotide variant not provided [RCV000964183] Chr8:76704578 [GRCh38]
Chr8:77616813 [GRCh37]
Chr8:8q21.13		 benign|likely benign
NM_024721.5(ZFHX4):c.2591-3T>C single nucleotide variant not provided [RCV000964184] Chr8:76707543 [GRCh38]
Chr8:77619778 [GRCh37]
Chr8:8q21.13		 benign|likely benign
NM_024721.5(ZFHX4):c.597A>T (p.Ser199=) single nucleotide variant ZFHX4-related disorder [RCV003932957]|not provided [RCV000909536] Chr8:76704685 [GRCh38]
Chr8:77616920 [GRCh37]
Chr8:8q21.13		 benign|likely benign
NM_024721.5(ZFHX4):c.1177G>C (p.Glu393Gln) single nucleotide variant ZFHX4-related disorder [RCV003950522]|not provided [RCV000898828] Chr8:76705265 [GRCh38]
Chr8:77617500 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.4272G>A (p.Ala1424=) single nucleotide variant not provided [RCV000910440] Chr8:76851193 [GRCh38]
Chr8:77763429 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.942T>C (p.Ser314=) single nucleotide variant not provided [RCV000910495] Chr8:76705030 [GRCh38]
Chr8:77617265 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.1737G>C (p.Arg579=) single nucleotide variant not provided [RCV000910496] Chr8:76705825 [GRCh38]
Chr8:77618060 [GRCh37]
Chr8:8q21.13		 benign
NM_024721.5(ZFHX4):c.3738C>T (p.Ile1246=) single nucleotide variant not provided [RCV000956645] Chr8:76849604 [GRCh38]
Chr8:77761840 [GRCh37]
Chr8:8q21.13		 benign
NM_024721.5(ZFHX4):c.7406C>T (p.Pro2469Leu) single nucleotide variant not provided [RCV000956646] Chr8:76854327 [GRCh38]
Chr8:77766563 [GRCh37]
Chr8:8q21.13		 benign
NM_024721.5(ZFHX4):c.868A>G (p.Ile290Val) single nucleotide variant not provided [RCV003233430] Chr8:76704956 [GRCh38]
Chr8:77617191 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.1169G>A (p.Ser390Asn) single nucleotide variant not specified [RCV004308222] Chr8:76705257 [GRCh38]
Chr8:77617492 [GRCh37]
Chr8:8q21.13		 uncertain significance
GRCh37/hg19 8q21.11(chr8:77494853-78225721)x3 copy number gain not provided [RCV002473748] Chr8:77494853..78225721 [GRCh37]
Chr8:8q21.11		 uncertain significance
NM_024721.5(ZFHX4):c.8776C>T (p.Arg2926Trp) single nucleotide variant not provided [RCV001348414] Chr8:76855697 [GRCh38]
Chr8:77767933 [GRCh37]
Chr8:8q21.13		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_024721.5(ZFHX4):c.2905C>T (p.Gln969Ter) single nucleotide variant not provided [RCV001312181] Chr8:76707860 [GRCh38]
Chr8:77620095 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.4939C>T (p.Gln1647Ter) single nucleotide variant not provided [RCV001372511] Chr8:76851860 [GRCh38]
Chr8:77764096 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.9388C>A (p.Pro3130Thr) single nucleotide variant not provided [RCV001354650]|not specified [RCV004036717] Chr8:76863102 [GRCh38]
Chr8:77775338 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.6141del (p.Pro2048fs) deletion Ptosis, hereditary congenital 1 [RCV001336127] Chr8:76853062 [GRCh38]
Chr8:77765298 [GRCh37]
Chr8:8q21.13		 pathogenic
NM_024721.5(ZFHX4):c.6144_6145del (p.Pro2049fs) deletion Ptosis, hereditary congenital 1 [RCV001336128] Chr8:76853064..76853065 [GRCh38]
Chr8:77765300..77765301 [GRCh37]
Chr8:8q21.13		 pathogenic
NM_024721.5(ZFHX4):c.2969_2970del (p.Cys990fs) microsatellite not provided [RCV001727455] Chr8:76707922..76707923 [GRCh38]
Chr8:77620157..77620158 [GRCh37]
Chr8:8q21.13		 pathogenic
GRCh37/hg19 8q21.11-21.13(chr8:75197438-81685526) copy number loss not specified [RCV002053774] Chr8:75197438..81685526 [GRCh37]
Chr8:8q21.11-21.13		 pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
GRCh37/hg19 8q21.11-21.13(chr8:75338205-80221568) copy number gain not specified [RCV002053775] Chr8:75338205..80221568 [GRCh37]
Chr8:8q21.11-21.13		 uncertain significance
NM_024721.5(ZFHX4):c.3387G>A (p.Ser1129=) single nucleotide variant Ptosis, hereditary congenital, 1 [RCV002245264]|not provided [RCV004713160] Chr8:76833399 [GRCh38]
Chr8:77745635 [GRCh37]
Chr8:8q21.13		 benign
NM_024721.5(ZFHX4):c.4223_4224del (p.Thr1408fs) deletion Neurodevelopmental disorder [RCV002273047] Chr8:76851144..76851145 [GRCh38]
Chr8:77763380..77763381 [GRCh37]
Chr8:8q21.13		 likely pathogenic
NM_024721.5(ZFHX4):c.8600C>G (p.Ser2867Cys) single nucleotide variant not specified [RCV004304358] Chr8:76855521 [GRCh38]
Chr8:77767757 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.5695C>T (p.Arg1899Ter) single nucleotide variant Neurodevelopmental disorder [RCV002273152] Chr8:76852616 [GRCh38]
Chr8:77764852 [GRCh37]
Chr8:8q21.13		 pathogenic
GRCh37/hg19 8q21.11-21.3(chr8:75904944-87097083)x1 copy number loss Chromosome 8q21.11 deletion syndrome [RCV002279750] Chr8:75904944..87097083 [GRCh37]
Chr8:8q21.11-21.3		 pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
NM_024721.5(ZFHX4):c.2965A>C (p.Lys989Gln) single nucleotide variant not provided [RCV002266861] Chr8:76707920 [GRCh38]
Chr8:77620155 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.10721C>T (p.Ser3574Leu) single nucleotide variant not specified [RCV004311403] Chr8:76864435 [GRCh38]
Chr8:77776671 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.2492T>C (p.Leu831Pro) single nucleotide variant not specified [RCV004159703] Chr8:76706580 [GRCh38]
Chr8:77618815 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.118C>T (p.Pro40Ser) single nucleotide variant Neurodevelopmental disorder [RCV002470261] Chr8:76704206 [GRCh38]
Chr8:77616441 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.1727A>T (p.Glu576Val) single nucleotide variant not specified [RCV004163666] Chr8:76705815 [GRCh38]
Chr8:77618050 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.383C>G (p.Thr128Arg) single nucleotide variant not specified [RCV004145956] Chr8:76704471 [GRCh38]
Chr8:77616706 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.3445G>A (p.Glu1149Lys) single nucleotide variant ZFHX4-related disorder [RCV003906627]|not specified [RCV004208656] Chr8:76842705 [GRCh38]
Chr8:77754941 [GRCh37]
Chr8:8q21.13		 likely benign|uncertain significance
NM_024721.5(ZFHX4):c.846G>T (p.Leu282Phe) single nucleotide variant not specified [RCV004132800] Chr8:76704934 [GRCh38]
Chr8:77617169 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.3731C>T (p.Pro1244Leu) single nucleotide variant not specified [RCV004136342] Chr8:76849597 [GRCh38]
Chr8:77761833 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.7385C>G (p.Pro2462Arg) single nucleotide variant not specified [RCV004111070] Chr8:76854306 [GRCh38]
Chr8:77766542 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.8283G>T (p.Glu2761Asp) single nucleotide variant not specified [RCV004170250] Chr8:76855204 [GRCh38]
Chr8:77767440 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.8437G>A (p.Ala2813Thr) single nucleotide variant not specified [RCV004160248] Chr8:76855358 [GRCh38]
Chr8:77767594 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.2488G>C (p.Gly830Arg) single nucleotide variant not specified [RCV004230820] Chr8:76706576 [GRCh38]
Chr8:77618811 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.7768T>C (p.Cys2590Arg) single nucleotide variant not specified [RCV004116834] Chr8:76854689 [GRCh38]
Chr8:77766925 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.3786A>T (p.Gln1262His) single nucleotide variant not specified [RCV004121459] Chr8:76849652 [GRCh38]
Chr8:77761888 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.8000C>T (p.Ala2667Val) single nucleotide variant not specified [RCV004141316] Chr8:76854921 [GRCh38]
Chr8:77767157 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.5114A>G (p.Gln1705Arg) single nucleotide variant not specified [RCV004144184] Chr8:76852035 [GRCh38]
Chr8:77764271 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.6310G>A (p.Ala2104Thr) single nucleotide variant not specified [RCV004088036] Chr8:76853231 [GRCh38]
Chr8:77765467 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.5287G>A (p.Gly1763Arg) single nucleotide variant not specified [RCV004166712] Chr8:76852208 [GRCh38]
Chr8:77764444 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.4294C>T (p.Arg1432Cys) single nucleotide variant not specified [RCV004184761] Chr8:76851215 [GRCh38]
Chr8:77763451 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.6269C>T (p.Ala2090Val) single nucleotide variant not specified [RCV004207619] Chr8:76853190 [GRCh38]
Chr8:77765426 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.1751G>C (p.Ser584Thr) single nucleotide variant not specified [RCV004147410] Chr8:76705839 [GRCh38]
Chr8:77618074 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.4304G>C (p.Arg1435Pro) single nucleotide variant not specified [RCV004121387] Chr8:76851225 [GRCh38]
Chr8:77763461 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.9434C>G (p.Ser3145Cys) single nucleotide variant not specified [RCV004194973] Chr8:76863148 [GRCh38]
Chr8:77775384 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.1286C>T (p.Ser429Leu) single nucleotide variant not specified [RCV004220007] Chr8:76705374 [GRCh38]
Chr8:77617609 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.5090A>G (p.Gln1697Arg) single nucleotide variant not specified [RCV004242157] Chr8:76852011 [GRCh38]
Chr8:77764247 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.9715G>A (p.Asp3239Asn) single nucleotide variant not specified [RCV004232492] Chr8:76863429 [GRCh38]
Chr8:77775665 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.572T>G (p.Ile191Ser) single nucleotide variant not specified [RCV004125011] Chr8:76704660 [GRCh38]
Chr8:77616895 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.4019A>G (p.Asn1340Ser) single nucleotide variant not specified [RCV004123411] Chr8:76850940 [GRCh38]
Chr8:77763176 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.1744G>A (p.Glu582Lys) single nucleotide variant not specified [RCV004104066] Chr8:76705832 [GRCh38]
Chr8:77618067 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.7625C>T (p.Pro2542Leu) single nucleotide variant not specified [RCV004206269] Chr8:76854546 [GRCh38]
Chr8:77766782 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.2111G>A (p.Cys704Tyr) single nucleotide variant not specified [RCV004098807] Chr8:76706199 [GRCh38]
Chr8:77618434 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.3722C>T (p.Ser1241Leu) single nucleotide variant ZFHX4-related disorder [RCV003936677]|not specified [RCV004214112] Chr8:76849588 [GRCh38]
Chr8:77761824 [GRCh37]
Chr8:8q21.13		 likely benign|uncertain significance
NM_024721.5(ZFHX4):c.1046C>T (p.Ser349Phe) single nucleotide variant not specified [RCV004112419] Chr8:76705134 [GRCh38]
Chr8:77617369 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.6170C>G (p.Pro2057Arg) single nucleotide variant not specified [RCV004243015] Chr8:76853091 [GRCh38]
Chr8:77765327 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.9223G>C (p.Gly3075Arg) single nucleotide variant not specified [RCV004125012] Chr8:76856144 [GRCh38]
Chr8:77768380 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.8646C>G (p.His2882Gln) single nucleotide variant not specified [RCV004083974] Chr8:76855567 [GRCh38]
Chr8:77767803 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.9431C>T (p.Ser3144Leu) single nucleotide variant not specified [RCV004201832] Chr8:76863145 [GRCh38]
Chr8:77775381 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.2986C>G (p.Pro996Ala) single nucleotide variant not specified [RCV004119534] Chr8:76707941 [GRCh38]
Chr8:77620176 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.4885A>T (p.Ser1629Cys) single nucleotide variant not specified [RCV004084606] Chr8:76851806 [GRCh38]
Chr8:77764042 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.8581G>A (p.Asp2861Asn) single nucleotide variant not specified [RCV004133380] Chr8:76855502 [GRCh38]
Chr8:77767738 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.1076C>T (p.Thr359Ile) single nucleotide variant not specified [RCV004243573] Chr8:76705164 [GRCh38]
Chr8:77617399 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.2330A>G (p.Asn777Ser) single nucleotide variant not specified [RCV004117500] Chr8:76706418 [GRCh38]
Chr8:77618653 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.10183G>A (p.Val3395Ile) single nucleotide variant not specified [RCV004128156] Chr8:76863897 [GRCh38]
Chr8:77776133 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.9005C>G (p.Thr3002Arg) single nucleotide variant not specified [RCV004173533] Chr8:76855926 [GRCh38]
Chr8:77768162 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.2483A>G (p.Asn828Ser) single nucleotide variant not specified [RCV004113246] Chr8:76706571 [GRCh38]
Chr8:77618806 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.167G>A (p.Arg56His) single nucleotide variant not specified [RCV004087277] Chr8:76704255 [GRCh38]
Chr8:77616490 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.550C>T (p.Pro184Ser) single nucleotide variant not specified [RCV004089184] Chr8:76704638 [GRCh38]
Chr8:77616873 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.10366A>G (p.Ile3456Val) single nucleotide variant not specified [RCV004103840] Chr8:76864080 [GRCh38]
Chr8:77776316 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.5732C>T (p.Ala1911Val) single nucleotide variant not specified [RCV004204559] Chr8:76852653 [GRCh38]
Chr8:77764889 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.7612A>G (p.Met2538Val) single nucleotide variant not specified [RCV004144723] Chr8:76854533 [GRCh38]
Chr8:77766769 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.9339C>G (p.Asn3113Lys) single nucleotide variant not specified [RCV004202525] Chr8:76856260 [GRCh38]
Chr8:77768496 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.3133T>C (p.Cys1045Arg) single nucleotide variant not specified [RCV004186279] Chr8:76778247 [GRCh38]
Chr8:77690483 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.8231G>C (p.Ser2744Thr) single nucleotide variant not specified [RCV004168275] Chr8:76855152 [GRCh38]
Chr8:77767388 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.774C>A (p.Asn258Lys) single nucleotide variant not specified [RCV004246619] Chr8:76704862 [GRCh38]
Chr8:77617097 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.4952A>G (p.Asp1651Gly) single nucleotide variant not specified [RCV004208865] Chr8:76851873 [GRCh38]
Chr8:77764109 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.3007G>A (p.Ala1003Thr) single nucleotide variant not specified [RCV004093612] Chr8:76707962 [GRCh38]
Chr8:77620197 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.4589C>T (p.Thr1530Met) single nucleotide variant not specified [RCV004198665] Chr8:76851510 [GRCh38]
Chr8:77763746 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.6718G>T (p.Val2240Phe) single nucleotide variant not specified [RCV004157513] Chr8:76853639 [GRCh38]
Chr8:77765875 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.124A>G (p.Arg42Gly) single nucleotide variant not specified [RCV004167947] Chr8:76704212 [GRCh38]
Chr8:77616447 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.5093T>C (p.Leu1698Pro) single nucleotide variant not specified [RCV004136487] Chr8:76852014 [GRCh38]
Chr8:77764250 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.8866A>G (p.Met2956Val) single nucleotide variant not specified [RCV004168983] Chr8:76855787 [GRCh38]
Chr8:77768023 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.10728G>T (p.Glu3576Asp) single nucleotide variant not specified [RCV004069532] Chr8:76864442 [GRCh38]
Chr8:77776678 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.8900G>T (p.Gly2967Val) single nucleotide variant not specified [RCV004120446] Chr8:76855821 [GRCh38]
Chr8:77768057 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.6169C>A (p.Pro2057Thr) single nucleotide variant not specified [RCV004071250] Chr8:76853090 [GRCh38]
Chr8:77765326 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.133A>C (p.Ser45Arg) single nucleotide variant not specified [RCV004115914] Chr8:76704221 [GRCh38]
Chr8:77616456 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.200A>G (p.Glu67Gly) single nucleotide variant not specified [RCV004108727] Chr8:76704288 [GRCh38]
Chr8:77616523 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.9920T>G (p.Leu3307Arg) single nucleotide variant not specified [RCV004167529] Chr8:76863634 [GRCh38]
Chr8:77775870 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.5141T>A (p.Leu1714Gln) single nucleotide variant not specified [RCV004147970] Chr8:76852062 [GRCh38]
Chr8:77764298 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.5351C>A (p.Thr1784Asn) single nucleotide variant not specified [RCV004095486] Chr8:76852272 [GRCh38]
Chr8:77764508 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.2227G>T (p.Ala743Ser) single nucleotide variant not specified [RCV004114498] Chr8:76706315 [GRCh38]
Chr8:77618550 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.8588A>G (p.Lys2863Arg) single nucleotide variant not specified [RCV004219570] Chr8:76855509 [GRCh38]
Chr8:77767745 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.4957A>G (p.Met1653Val) single nucleotide variant not specified [RCV004077577] Chr8:76851878 [GRCh38]
Chr8:77764114 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.953T>A (p.Val318Asp) single nucleotide variant not specified [RCV004328456] Chr8:76705041 [GRCh38]
Chr8:77617276 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.52A>C (p.Thr18Pro) single nucleotide variant not specified [RCV004275114] Chr8:76704140 [GRCh38]
Chr8:77616375 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.3469G>C (p.Glu1157Gln) single nucleotide variant not specified [RCV004267888] Chr8:76842729 [GRCh38]
Chr8:77754965 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.3281T>C (p.Leu1094Pro) single nucleotide variant not specified [RCV004272674] Chr8:76778395 [GRCh38]
Chr8:77690631 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.1049C>A (p.Thr350Asn) single nucleotide variant not specified [RCV004248687] Chr8:76705137 [GRCh38]
Chr8:77617372 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.10832T>C (p.Met3611Thr) single nucleotide variant not specified [RCV004263397] Chr8:76864546 [GRCh38]
Chr8:77776782 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.2598T>A (p.Asn866Lys) single nucleotide variant not specified [RCV004254615] Chr8:76707553 [GRCh38]
Chr8:77619788 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.1163C>A (p.Thr388Asn) single nucleotide variant not specified [RCV004271535] Chr8:76705251 [GRCh38]
Chr8:77617486 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.7553C>T (p.Ala2518Val) single nucleotide variant not specified [RCV004287026] Chr8:76854474 [GRCh38]
Chr8:77766710 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.810C>A (p.Ser270Arg) single nucleotide variant not specified [RCV004268853] Chr8:76704898 [GRCh38]
Chr8:77617133 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.9364C>T (p.Pro3122Ser) single nucleotide variant Ptosis, hereditary congenital, 1 [RCV003139399] Chr8:76856285 [GRCh38]
Chr8:77768521 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.2144G>A (p.Ser715Asn) single nucleotide variant Ptosis, hereditary congenital, 1 [RCV003140490]|not specified [RCV004245992] Chr8:76706232 [GRCh38]
Chr8:77618467 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.3214C>G (p.Gln1072Glu) single nucleotide variant not specified [RCV004258569] Chr8:76778328 [GRCh38]
Chr8:77690564 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.38A>G (p.Glu13Gly) single nucleotide variant not specified [RCV004264027] Chr8:76704126 [GRCh38]
Chr8:77616361 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.1057C>A (p.Leu353Ile) single nucleotide variant not specified [RCV004267274] Chr8:76705145 [GRCh38]
Chr8:77617380 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.5412A>C (p.Gln1804His) single nucleotide variant not specified [RCV004271129] Chr8:76852333 [GRCh38]
Chr8:77764569 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.1387A>C (p.Lys463Gln) single nucleotide variant not specified [RCV004249639] Chr8:76705475 [GRCh38]
Chr8:77617710 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.6199G>C (p.Val2067Leu) single nucleotide variant not specified [RCV004316350] Chr8:76853120 [GRCh38]
Chr8:77765356 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.7245G>C (p.Gln2415His) single nucleotide variant not specified [RCV004318905] Chr8:76854166 [GRCh38]
Chr8:77766402 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.4757G>A (p.Ser1586Asn) single nucleotide variant not provided [RCV003423946] Chr8:76851678 [GRCh38]
Chr8:77763914 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.950G>A (p.Cys317Tyr) single nucleotide variant not specified [RCV004349634] Chr8:76705038 [GRCh38]
Chr8:77617273 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.3531G>C (p.Lys1177Asn) single nucleotide variant not specified [RCV004337841] Chr8:76849014 [GRCh38]
Chr8:77761250 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.9404T>C (p.Met3135Thr) single nucleotide variant not specified [RCV004343437] Chr8:76863118 [GRCh38]
Chr8:77775354 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.2761A>C (p.Ser921Arg) single nucleotide variant not specified [RCV004362062] Chr8:76707716 [GRCh38]
Chr8:77619951 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.10046C>T (p.Thr3349Ile) single nucleotide variant not specified [RCV004346232] Chr8:76863760 [GRCh38]
Chr8:77775996 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.5945C>T (p.Ala1982Val) single nucleotide variant not specified [RCV004364027] Chr8:76852866 [GRCh38]
Chr8:77765102 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.3853G>C (p.Val1285Leu) single nucleotide variant ZFHX4-related disorder [RCV003420956] Chr8:76850251 [GRCh38]
Chr8:77762487 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.711G>T (p.Glu237Asp) single nucleotide variant not specified [RCV004349632] Chr8:76704799 [GRCh38]
Chr8:77617034 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.921C>A (p.Asp307Glu) single nucleotide variant not specified [RCV004349633] Chr8:76705009 [GRCh38]
Chr8:77617244 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.10070C>T (p.Pro3357Leu) single nucleotide variant not specified [RCV004334974] Chr8:76863784 [GRCh38]
Chr8:77776020 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.1277G>A (p.Ser426Asn) single nucleotide variant Ptosis, hereditary congenital, 1 [RCV003456331] Chr8:76705365 [GRCh38]
Chr8:77617600 [GRCh37]
Chr8:8q21.13		 benign
NM_024721.5(ZFHX4):c.1030G>A (p.Val344Ile) single nucleotide variant not specified [RCV004339260] Chr8:76705118 [GRCh38]
Chr8:77617353 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.9048C>A (p.Tyr3016Ter) single nucleotide variant Ptosis, hereditary congenital, 1 [RCV003447808] Chr8:76855969 [GRCh38]
Chr8:77768205 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.8595C>G (p.Leu2865=) single nucleotide variant not provided [RCV003435539] Chr8:76855516 [GRCh38]
Chr8:77767752 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.1497T>C (p.Asp499=) single nucleotide variant not provided [RCV003423944] Chr8:76705585 [GRCh38]
Chr8:77617820 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.8238T>C (p.Asn2746=) single nucleotide variant not provided [RCV003435538] Chr8:76855159 [GRCh38]
Chr8:77767395 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.196G>A (p.Val66Ile) single nucleotide variant ZFHX4-related disorder [RCV003939027]|not provided [RCV003423943] Chr8:76704284 [GRCh38]
Chr8:77616519 [GRCh37]
Chr8:8q21.13		 benign|likely benign
NM_024721.5(ZFHX4):c.2883del (p.Cys962fs) deletion ZFHX4-related disorder [RCV003429088] Chr8:76707838 [GRCh38]
Chr8:77620073 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.4118C>A (p.Thr1373Lys) single nucleotide variant not provided [RCV003423945]|not specified [RCV004364626] Chr8:76851039 [GRCh38]
Chr8:77763275 [GRCh37]
Chr8:8q21.13		 likely benign|uncertain significance
NM_024721.5(ZFHX4):c.7918C>G (p.Arg2640Gly) single nucleotide variant ZFHX4-related disorder [RCV003404533] Chr8:76854839 [GRCh38]
Chr8:77767075 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.3006C>T (p.Asn1002=) single nucleotide variant ZFHX4-related disorder [RCV003939028]|not provided [RCV003435533] Chr8:76707961 [GRCh38]
Chr8:77620196 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.3056C>G (p.Thr1019Ser) single nucleotide variant not provided [RCV003435534] Chr8:76708011 [GRCh38]
Chr8:77620246 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.3726G>T (p.Val1242=) single nucleotide variant ZFHX4-related disorder [RCV003980947]|not provided [RCV003435535] Chr8:76849592 [GRCh38]
Chr8:77761828 [GRCh37]
Chr8:8q21.13		 benign|likely benign
NM_024721.5(ZFHX4):c.5118C>T (p.Ala1706=) single nucleotide variant not provided [RCV003435536] Chr8:76852039 [GRCh38]
Chr8:77764275 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.5361C>T (p.His1787=) single nucleotide variant ZFHX4-related disorder [RCV003929180]|not provided [RCV003435537] Chr8:76852282 [GRCh38]
Chr8:77764518 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.686T>C (p.Val229Ala) single nucleotide variant not provided [RCV003435531] Chr8:76704774 [GRCh38]
Chr8:77617009 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.2919G>C (p.Leu973=) single nucleotide variant not provided [RCV003435532] Chr8:76707874 [GRCh38]
Chr8:77620109 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.9960A>G (p.Gln3320=) single nucleotide variant not provided [RCV003435540] Chr8:76863674 [GRCh38]
Chr8:77775910 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.1230dup (p.Leu411fs) duplication not provided [RCV003457162] Chr8:76705311..76705312 [GRCh38]
Chr8:77617546..77617547 [GRCh37]
Chr8:8q21.13		 uncertain significance
GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3 copy number gain not specified [RCV003986754] Chr8:27024288..89410121 [GRCh37]
Chr8:8p21.2-q21.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.11(chr8:77361439-77694902)x3 copy number gain not specified [RCV003986778] Chr8:77361439..77694902 [GRCh37]
Chr8:8q21.11		 uncertain significance
NM_024721.5(ZFHX4):c.7581G>A (p.Pro2527=) single nucleotide variant ZFHX4-related disorder [RCV003941632] Chr8:76854502 [GRCh38]
Chr8:77766738 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.10351G>T (p.Ala3451Ser) single nucleotide variant not specified [RCV004485926] Chr8:76864065 [GRCh38]
Chr8:77776301 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.3200G>A (p.Arg1067His) single nucleotide variant not specified [RCV004485939] Chr8:76778314 [GRCh38]
Chr8:77690550 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.3737T>C (p.Ile1246Thr) single nucleotide variant not specified [RCV004485941] Chr8:76849603 [GRCh38]
Chr8:77761839 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.3976A>G (p.Met1326Val) single nucleotide variant not specified [RCV004485943] Chr8:76850897 [GRCh38]
Chr8:77763133 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.478C>T (p.Leu160Phe) single nucleotide variant not specified [RCV004485946] Chr8:76704566 [GRCh38]
Chr8:77616801 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.5563T>C (p.Tyr1855His) single nucleotide variant not specified [RCV004485951] Chr8:76852484 [GRCh38]
Chr8:77764720 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.5804G>A (p.Gly1935Asp) single nucleotide variant not specified [RCV004485955] Chr8:76852725 [GRCh38]
Chr8:77764961 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.5831A>G (p.Asp1944Gly) single nucleotide variant not specified [RCV004485956] Chr8:76852752 [GRCh38]
Chr8:77764988 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.64T>C (p.Cys22Arg) single nucleotide variant not specified [RCV004485961] Chr8:76704152 [GRCh38]
Chr8:77616387 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.7679C>T (p.Pro2560Leu) single nucleotide variant not specified [RCV004485964] Chr8:76854600 [GRCh38]
Chr8:77766836 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.9485C>T (p.Pro3162Leu) single nucleotide variant not specified [RCV004485976] Chr8:76863199 [GRCh38]
Chr8:77775435 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.6964C>T (p.Pro2322Ser) single nucleotide variant ZFHX4-related disorder [RCV003899546]|not specified [RCV004686802] Chr8:76853885 [GRCh38]
Chr8:77766121 [GRCh37]
Chr8:8q21.13		 likely benign|uncertain significance
NM_024721.5(ZFHX4):c.9636C>T (p.Pro3212=) single nucleotide variant ZFHX4-related disorder [RCV003952000] Chr8:76863350 [GRCh38]
Chr8:77775586 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.1459G>C (p.Val487Leu) single nucleotide variant not specified [RCV004485930] Chr8:76705547 [GRCh38]
Chr8:77617782 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.2266C>T (p.Pro756Ser) single nucleotide variant not specified [RCV004485933] Chr8:76706354 [GRCh38]
Chr8:77618589 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.2408A>G (p.Lys803Arg) single nucleotide variant not specified [RCV004485934] Chr8:76706496 [GRCh38]
Chr8:77618731 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.241C>A (p.Pro81Thr) single nucleotide variant not specified [RCV004485935] Chr8:76704329 [GRCh38]
Chr8:77616564 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.2855C>G (p.Thr952Ser) single nucleotide variant not specified [RCV004485938] Chr8:76707810 [GRCh38]
Chr8:77620045 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.3622G>A (p.Asp1208Asn) single nucleotide variant not specified [RCV004485940] Chr8:76849105 [GRCh38]
Chr8:77761341 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.4049C>T (p.Pro1350Leu) single nucleotide variant not specified [RCV004485945] Chr8:76850970 [GRCh38]
Chr8:77763206 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.6140C>T (p.Pro2047Leu) single nucleotide variant not specified [RCV004485958] Chr8:76853061 [GRCh38]
Chr8:77765297 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.6167C>T (p.Pro2056Leu) single nucleotide variant not specified [RCV004485959] Chr8:76853088 [GRCh38]
Chr8:77765324 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.6253C>T (p.Pro2085Ser) single nucleotide variant not specified [RCV004485960] Chr8:76853174 [GRCh38]
Chr8:77765410 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.8423C>T (p.Thr2808Met) single nucleotide variant not specified [RCV004485968] Chr8:76855344 [GRCh38]
Chr8:77767580 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.8491G>A (p.Gly2831Arg) single nucleotide variant not specified [RCV004485969] Chr8:76855412 [GRCh38]
Chr8:77767648 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.9175A>G (p.Met3059Val) single nucleotide variant not specified [RCV004485974] Chr8:76856096 [GRCh38]
Chr8:77768332 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.9295C>G (p.Pro3099Ala) single nucleotide variant not specified [RCV004485975] Chr8:76856216 [GRCh38]
Chr8:77768452 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.986A>G (p.Lys329Arg) single nucleotide variant not specified [RCV004485979] Chr8:76705074 [GRCh38]
Chr8:77617309 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.10200G>A (p.Lys3400=) single nucleotide variant ZFHX4-related disorder [RCV003976976] Chr8:76863914 [GRCh38]
Chr8:77776150 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.7179A>G (p.Pro2393=) single nucleotide variant ZFHX4-related disorder [RCV003919820] Chr8:76854100 [GRCh38]
Chr8:77766336 [GRCh37]
Chr8:8q21.13		 benign
NM_024721.5(ZFHX4):c.10252G>A (p.Ala3418Thr) single nucleotide variant not specified [RCV004485925] Chr8:76863966 [GRCh38]
Chr8:77776202 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.2671G>C (p.Glu891Gln) single nucleotide variant not specified [RCV004485937] Chr8:76707626 [GRCh38]
Chr8:77619861 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.5048C>T (p.Pro1683Leu) single nucleotide variant not specified [RCV004485947] Chr8:76851969 [GRCh38]
Chr8:77764205 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.8150C>T (p.Thr2717Ile) single nucleotide variant not specified [RCV004485966] Chr8:76855071 [GRCh38]
Chr8:77767307 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.7517_7524dup (p.Gln2509fs) microsatellite not provided [RCV003993383] Chr8:76854429..76854430 [GRCh38]
Chr8:77766665..77766666 [GRCh37]
Chr8:8q21.13		 pathogenic
NM_024721.5(ZFHX4):c.6708C>T (p.Tyr2236=) single nucleotide variant ZFHX4-related disorder [RCV003982466] Chr8:76853629 [GRCh38]
Chr8:77765865 [GRCh37]
Chr8:8q21.13		 benign
NM_024721.5(ZFHX4):c.9355C>A (p.Pro3119Thr) single nucleotide variant ZFHX4-related disorder [RCV003978933] Chr8:76856276 [GRCh38]
Chr8:77768512 [GRCh37]
Chr8:8q21.13		 benign
NM_024721.5(ZFHX4):c.10544A>G (p.Tyr3515Cys) single nucleotide variant not specified [RCV004485927] Chr8:76864258 [GRCh38]
Chr8:77776494 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.6977A>G (p.Asp2326Gly) single nucleotide variant not specified [RCV004485962] Chr8:76853898 [GRCh38]
Chr8:77766134 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.7577C>T (p.Ser2526Phe) single nucleotide variant not specified [RCV004485963] Chr8:76854498 [GRCh38]
Chr8:77766734 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.7727C>T (p.Ala2576Val) single nucleotide variant not specified [RCV004485965] Chr8:76854648 [GRCh38]
Chr8:77766884 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.9989T>C (p.Leu3330Pro) single nucleotide variant not specified [RCV004485980] Chr8:76863703 [GRCh38]
Chr8:77775939 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.1603A>G (p.Lys535Glu) single nucleotide variant not specified [RCV004485931] Chr8:76705691 [GRCh38]
Chr8:77617926 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.2039G>A (p.Gly680Glu) single nucleotide variant not specified [RCV004485932] Chr8:76706127 [GRCh38]
Chr8:77618362 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.3760G>A (p.Val1254Ile) single nucleotide variant not specified [RCV004485942] Chr8:76849626 [GRCh38]
Chr8:77761862 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.4024G>A (p.Glu1342Lys) single nucleotide variant not specified [RCV004485944] Chr8:76850945 [GRCh38]
Chr8:77763181 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.5651A>G (p.Asp1884Gly) single nucleotide variant not specified [RCV004485952] Chr8:76852572 [GRCh38]
Chr8:77764808 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.5989C>G (p.Pro1997Ala) single nucleotide variant not specified [RCV004485957] Chr8:76852910 [GRCh38]
Chr8:77765146 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.8693G>A (p.Arg2898His) single nucleotide variant not specified [RCV004485971] Chr8:76855614 [GRCh38]
Chr8:77767850 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.8777G>A (p.Arg2926Gln) single nucleotide variant not specified [RCV004485972] Chr8:76855698 [GRCh38]
Chr8:77767934 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.234G>A (p.Lys78=) single nucleotide variant ZFHX4-related disorder [RCV003963811] Chr8:76704322 [GRCh38]
Chr8:77616557 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.1413T>C (p.Asp471=) single nucleotide variant ZFHX4-related disorder [RCV003961726] Chr8:76705501 [GRCh38]
Chr8:77617736 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.1475C>T (p.Thr492Ile) single nucleotide variant ZFHX4-related disorder [RCV003961739] Chr8:76705563 [GRCh38]
Chr8:77617798 [GRCh37]
Chr8:8q21.13		 benign
NM_024721.5(ZFHX4):c.9133C>A (p.Arg3045=) single nucleotide variant ZFHX4-related disorder [RCV003961774] Chr8:76856054 [GRCh38]
Chr8:77768290 [GRCh37]
Chr8:8q21.13		 benign
NM_024721.5(ZFHX4):c.8772T>C (p.Asn2924=) single nucleotide variant ZFHX4-related disorder [RCV003973934] Chr8:76855693 [GRCh38]
Chr8:77767929 [GRCh37]
Chr8:8q21.13		 benign
NM_024721.5(ZFHX4):c.6793C>T (p.Leu2265=) single nucleotide variant ZFHX4-related disorder [RCV003979360] Chr8:76853714 [GRCh38]
Chr8:77765950 [GRCh37]
Chr8:8q21.13		 benign
NM_024721.5(ZFHX4):c.5820C>T (p.Gly1940=) single nucleotide variant ZFHX4-related disorder [RCV003922075] Chr8:76852741 [GRCh38]
Chr8:77764977 [GRCh37]
Chr8:8q21.13		 benign
NM_024721.5(ZFHX4):c.4471T>C (p.Tyr1491His) single nucleotide variant ZFHX4-related disorder [RCV003931865] Chr8:76851392 [GRCh38]
Chr8:77763628 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.609A>G (p.Lys203=) single nucleotide variant ZFHX4-related disorder [RCV003937164] Chr8:76704697 [GRCh38]
Chr8:77616932 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.10623C>G (p.Pro3541=) single nucleotide variant ZFHX4-related disorder [RCV003942284] Chr8:76864337 [GRCh38]
Chr8:77776573 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.196G>C (p.Val66Leu) single nucleotide variant ZFHX4-related disorder [RCV003916838] Chr8:76704284 [GRCh38]
Chr8:77616519 [GRCh37]
Chr8:8q21.13		 benign
NM_024721.5(ZFHX4):c.7109C>T (p.Thr2370Met) single nucleotide variant not provided [RCV003885740] Chr8:76854030 [GRCh38]
Chr8:77766266 [GRCh37]
Chr8:8q21.13		 benign
NM_024721.5(ZFHX4):c.9783G>A (p.Gln3261=) single nucleotide variant ZFHX4-related disorder [RCV003957271] Chr8:76863497 [GRCh38]
Chr8:77775733 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.6103C>T (p.Leu2035=) single nucleotide variant ZFHX4-related disorder [RCV003927059] Chr8:76853024 [GRCh38]
Chr8:77765260 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.10162G>T (p.Ala3388Ser) single nucleotide variant ZFHX4-related disorder [RCV003932026] Chr8:76863876 [GRCh38]
Chr8:77776112 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.3817C>T (p.Pro1273Ser) single nucleotide variant ZFHX4-related disorder [RCV003914225] Chr8:76849683 [GRCh38]
Chr8:77761919 [GRCh37]
Chr8:8q21.13		 benign
NM_024721.5(ZFHX4):c.1119C>T (p.Asp373=) single nucleotide variant ZFHX4-related disorder [RCV003961684] Chr8:76705207 [GRCh38]
Chr8:77617442 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.3075G>A (p.Ala1025=) single nucleotide variant ZFHX4-related disorder [RCV003909695] Chr8:76708030 [GRCh38]
Chr8:77620265 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.3550G>C (p.Ala1184Pro) single nucleotide variant ZFHX4-related disorder [RCV003922193] Chr8:76849033 [GRCh38]
Chr8:77761269 [GRCh37]
Chr8:8q21.13		 benign
NM_024721.5(ZFHX4):c.4393G>A (p.Val1465Met) single nucleotide variant ZFHX4-related disorder [RCV003932327] Chr8:76851314 [GRCh38]
Chr8:77763550 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.4419C>T (p.Ser1473=) single nucleotide variant ZFHX4-related disorder [RCV003933893] Chr8:76851340 [GRCh38]
Chr8:77763576 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.9400G>A (p.Gly3134Ser) single nucleotide variant ZFHX4-related disorder [RCV003951629] Chr8:76863114 [GRCh38]
Chr8:77775350 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.10182C>T (p.Tyr3394=) single nucleotide variant ZFHX4-related disorder [RCV003974169] Chr8:76863896 [GRCh38]
Chr8:77776132 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.4700A>G (p.His1567Arg) single nucleotide variant ZFHX4-related disorder [RCV003966773] Chr8:76851621 [GRCh38]
Chr8:77763857 [GRCh37]
Chr8:8q21.13		 benign
NM_024721.5(ZFHX4):c.6147T>A (p.Pro2049=) single nucleotide variant ZFHX4-related disorder [RCV003966760] Chr8:76853068 [GRCh38]
Chr8:77765304 [GRCh37]
Chr8:8q21.13		 benign
NM_024721.5(ZFHX4):c.6491A>G (p.Glu2164Gly) single nucleotide variant not provided [RCV003887350] Chr8:76853412 [GRCh38]
Chr8:77765648 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.3174C>T (p.Val1058=) single nucleotide variant ZFHX4-related disorder [RCV003977014] Chr8:76778288 [GRCh38]
Chr8:77690524 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.10461T>C (p.Val3487=) single nucleotide variant ZFHX4-related disorder [RCV003924369] Chr8:76864175 [GRCh38]
Chr8:77776411 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.1032T>C (p.Val344=) single nucleotide variant ZFHX4-related disorder [RCV003929637] Chr8:76705120 [GRCh38]
Chr8:77617355 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.3964+6C>A single nucleotide variant ZFHX4-related disorder [RCV003934235] Chr8:76850368 [GRCh38]
Chr8:77762604 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.6089C>T (p.Thr2030Met) single nucleotide variant ZFHX4-related disorder [RCV003941990] Chr8:76853010 [GRCh38]
Chr8:77765246 [GRCh37]
Chr8:8q21.13		 benign
NM_024721.5(ZFHX4):c.4945A>T (p.Met1649Leu) single nucleotide variant ZFHX4-related disorder [RCV003934283] Chr8:76851866 [GRCh38]
Chr8:77764102 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.447G>A (p.Gly149=) single nucleotide variant ZFHX4-related disorder [RCV003981465] Chr8:76704535 [GRCh38]
Chr8:77616770 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.9906A>C (p.Thr3302=) single nucleotide variant not provided [RCV004546245] Chr8:76863620 [GRCh38]
Chr8:77775856 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.3069C>T (p.His1023=) single nucleotide variant ZFHX4-related disorder [RCV003924269] Chr8:76708024 [GRCh38]
Chr8:77620259 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.8697C>G (p.Ser2899Arg) single nucleotide variant not provided [RCV003887309] Chr8:76855618 [GRCh38]
Chr8:77767854 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.5582T>G (p.Ile1861Ser) single nucleotide variant ZFHX4-related disorder [RCV003914586] Chr8:76852503 [GRCh38]
Chr8:77764739 [GRCh37]
Chr8:8q21.13		 benign
NM_024721.5(ZFHX4):c.6141A>C (p.Pro2047=) single nucleotide variant ZFHX4-related disorder [RCV003921898] Chr8:76853062 [GRCh38]
Chr8:77765298 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.159G>C (p.Thr53=) single nucleotide variant ZFHX4-related disorder [RCV003979421] Chr8:76704247 [GRCh38]
Chr8:77616482 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.5682C>A (p.Ser1894=) single nucleotide variant ZFHX4-related disorder [RCV003897343] Chr8:76852603 [GRCh38]
Chr8:77764839 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.7749C>T (p.Asp2583=) single nucleotide variant ZFHX4-related disorder [RCV003969324] Chr8:76854670 [GRCh38]
Chr8:77766906 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.1129G>A (p.Ala377Thr) single nucleotide variant not specified [RCV004485929] Chr8:76705217 [GRCh38]
Chr8:77617452 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.568C>G (p.Gln190Glu) single nucleotide variant not specified [RCV004485953] Chr8:76704656 [GRCh38]
Chr8:77616891 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.5716G>A (p.Gly1906Arg) single nucleotide variant not specified [RCV004485954] Chr8:76852637 [GRCh38]
Chr8:77764873 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.9031C>T (p.Leu3011Phe) single nucleotide variant not specified [RCV004485973] Chr8:76855952 [GRCh38]
Chr8:77768188 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.9644A>C (p.His3215Pro) single nucleotide variant not specified [RCV004485978] Chr8:76863358 [GRCh38]
Chr8:77775594 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.9912C>A (p.Pro3304=) single nucleotide variant not provided [RCV004546188] Chr8:76863626 [GRCh38]
Chr8:77775862 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.8551C>T (p.Pro2851Ser) single nucleotide variant not specified [RCV004686426] Chr8:76855472 [GRCh38]
Chr8:77767708 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.10813A>G (p.Asn3605Asp) single nucleotide variant not specified [RCV004686434] Chr8:76864527 [GRCh38]
Chr8:77776763 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.5660A>G (p.Lys1887Arg) single nucleotide variant not specified [RCV004686446] Chr8:76852581 [GRCh38]
Chr8:77764817 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.10241A>T (p.Asp3414Val) single nucleotide variant not specified [RCV004686450] Chr8:76863955 [GRCh38]
Chr8:77776191 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.7492T>C (p.Cys2498Arg) single nucleotide variant not provided [RCV004555968] Chr8:76854413 [GRCh38]
Chr8:77766649 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.530G>A (p.Ser177Asn) single nucleotide variant not specified [RCV004686438] Chr8:76704618 [GRCh38]
Chr8:77616853 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.534T>G (p.Asp178Glu) single nucleotide variant not specified [RCV004686439] Chr8:76704622 [GRCh38]
Chr8:77616857 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.4788C>A (p.Ser1596Arg) single nucleotide variant not specified [RCV004686441] Chr8:76851709 [GRCh38]
Chr8:77763945 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.9474G>C (p.Leu3158Phe) single nucleotide variant not specified [RCV004686442] Chr8:76863188 [GRCh38]
Chr8:77775424 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.6792T>A (p.Asn2264Lys) single nucleotide variant not specified [RCV004686453] Chr8:76853713 [GRCh38]
Chr8:77765949 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.9593A>T (p.Lys3198Met) single nucleotide variant not specified [RCV004686424] Chr8:76863307 [GRCh38]
Chr8:77775543 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.10152A>T (p.Glu3384Asp) single nucleotide variant not specified [RCV004686437] Chr8:76863866 [GRCh38]
Chr8:77776102 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.1693A>G (p.Ser565Gly) single nucleotide variant not specified [RCV004686443] Chr8:76705781 [GRCh38]
Chr8:77618016 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.10820A>G (p.Asn3607Ser) single nucleotide variant not specified [RCV004686445] Chr8:76864534 [GRCh38]
Chr8:77776770 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.7261C>G (p.Pro2421Ala) single nucleotide variant not specified [RCV004686420] Chr8:76854182 [GRCh38]
Chr8:77766418 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.6005C>T (p.Thr2002Met) single nucleotide variant not specified [RCV004686425] Chr8:76852926 [GRCh38]
Chr8:77765162 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.1841A>G (p.Glu614Gly) single nucleotide variant not specified [RCV004686427] Chr8:76705929 [GRCh38]
Chr8:77618164 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.1729A>G (p.Ile577Val) single nucleotide variant not specified [RCV004686428] Chr8:76705817 [GRCh38]
Chr8:77618052 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.2786C>T (p.Ser929Phe) single nucleotide variant not specified [RCV004686431] Chr8:76707741 [GRCh38]
Chr8:77619976 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.9463A>T (p.Thr3155Ser) single nucleotide variant not specified [RCV004686432] Chr8:76863177 [GRCh38]
Chr8:77775413 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.2564C>G (p.Thr855Arg) single nucleotide variant not specified [RCV004686433] Chr8:76706652 [GRCh38]
Chr8:77618887 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.9616G>C (p.Glu3206Gln) single nucleotide variant not specified [RCV004686421] Chr8:76863330 [GRCh38]
Chr8:77775566 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.9314C>T (p.Pro3105Leu) single nucleotide variant not specified [RCV004686454] Chr8:76856235 [GRCh38]
Chr8:77768471 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.7654C>A (p.Leu2552Met) single nucleotide variant not specified [RCV004686417] Chr8:76854575 [GRCh38]
Chr8:77766811 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.155A>G (p.Lys52Arg) single nucleotide variant not specified [RCV004686429] Chr8:76704243 [GRCh38]
Chr8:77616478 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.7441T>C (p.Ser2481Pro) single nucleotide variant not specified [RCV004686435] Chr8:76854362 [GRCh38]
Chr8:77766598 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.7642A>C (p.Thr2548Pro) single nucleotide variant not specified [RCV004686436] Chr8:76854563 [GRCh38]
Chr8:77766799 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.10375A>T (p.Asn3459Tyr) single nucleotide variant not specified [RCV004686440] Chr8:76864089 [GRCh38]
Chr8:77776325 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.8579G>A (p.Cys2860Tyr) single nucleotide variant not specified [RCV004686449] Chr8:76855500 [GRCh38]
Chr8:77767736 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.8780C>T (p.Pro2927Leu) single nucleotide variant not specified [RCV004686418] Chr8:76855701 [GRCh38]
Chr8:77767937 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.3613C>T (p.Pro1205Ser) single nucleotide variant not specified [RCV004686419] Chr8:76849096 [GRCh38]
Chr8:77761332 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.3640G>C (p.Glu1214Gln) single nucleotide variant not specified [RCV004686422] Chr8:76849123 [GRCh38]
Chr8:77761359 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.5872G>A (p.Val1958Ile) single nucleotide variant not specified [RCV004686452] Chr8:76852793 [GRCh38]
Chr8:77765029 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.22C>A (p.Pro8Thr) single nucleotide variant not specified [RCV004686423] Chr8:76704110 [GRCh38]
Chr8:77616345 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.752G>A (p.Cys251Tyr) single nucleotide variant not specified [RCV004686448] Chr8:76704840 [GRCh38]
Chr8:77617075 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.2318A>G (p.Asp773Gly) single nucleotide variant not specified [RCV004686451] Chr8:76706406 [GRCh38]
Chr8:77618641 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.5420A>G (p.Gln1807Arg) single nucleotide variant not specified [RCV004686416] Chr8:76852341 [GRCh38]
Chr8:77764577 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.178G>A (p.Ala60Thr) single nucleotide variant not specified [RCV004686430] Chr8:76704266 [GRCh38]
Chr8:77616501 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.9649A>G (p.Lys3217Glu) single nucleotide variant not specified [RCV004686444] Chr8:76863363 [GRCh38]
Chr8:77775599 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.811G>C (p.Asp271His) single nucleotide variant not specified [RCV004686447] Chr8:76704899 [GRCh38]
Chr8:77617134 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.10619C>T (p.Ser3540Phe) single nucleotide variant ZFHX4-related disorder [RCV004731341] Chr8:76864333 [GRCh38]
Chr8:77776569 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.2622T>A (p.Leu874=) single nucleotide variant ZFHX4-related disorder [RCV004755287] Chr8:76707577 [GRCh38]
Chr8:77619812 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.5882T>A (p.Leu1961Ter) single nucleotide variant ZFHX4-related syndrome [RCV004759459]   uncertain significance
NM_024721.5(ZFHX4):c.3330del (p.Ala1111fs) deletion Congenital corneal opacity [RCV004759282] Chr8:76833342 [GRCh38]
Chr8:77745578 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.3509_3510del (p.Ser1170fs) microsatellite not provided [RCV004765479] Chr8:76842767..76842768 [GRCh38]
Chr8:77755003..77755004 [GRCh37]
Chr8:8q21.13		 likely pathogenic
NM_024721.5(ZFHX4):c.4154A>T (p.Gln1385Leu) single nucleotide variant ZFHX4-related disorder [RCV004730618] Chr8:76851075 [GRCh38]
Chr8:77763311 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_024721.5(ZFHX4):c.7944C>G (p.Val2648=) single nucleotide variant ZFHX4-related disorder [RCV004755342] Chr8:76854865 [GRCh38]
Chr8:77767101 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.1224G>C (p.Leu408=) single nucleotide variant ZFHX4-related disorder [RCV004755395] Chr8:76705312 [GRCh38]
Chr8:77617547 [GRCh37]
Chr8:8q21.13		 likely benign
NM_024721.5(ZFHX4):c.2721T>C (p.Ala907=) single nucleotide variant ZFHX4-related disorder [RCV004755401] Chr8:76707676 [GRCh38]
Chr8:77619911 [GRCh37]
Chr8:8q21.13		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4946
Count of miRNA genes:1163
Interacting mature miRNAs:1509
Transcripts:ENST00000050961, ENST00000455469, ENST00000458716, ENST00000517585, ENST00000517683, ENST00000518282, ENST00000519536, ENST00000520307, ENST00000521891, ENST00000522409, ENST00000523625, ENST00000523809, ENST00000523885, ENST00000524290
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407028098GWAS677074_Hage at menarche QTL GWAS677074 (human)0.000005age at menarche87669939076699391Human
406989251GWAS638227_Hbirth weight, parental genotype effect measurement QTL GWAS638227 (human)8e-13birth weight, parental genotype effect measurementneonatal body weight (CMO:0002079)87669877776698778Human
407415433GWAS1064409_Hsystolic blood pressure QTL GWAS1064409 (human)2e-15systolic blood pressuresystolic blood pressure (CMO:0000004)87671978276719783Human
407353988GWAS1002964_Heducational attainment QTL GWAS1002964 (human)1e-09educational attainment87683979976839800Human
407344269GWAS993245_Hpulse pressure measurement QTL GWAS993245 (human)1e-13pulse pressure measurementpulse pressure (CMO:0000292)87675449576754496Human
407102473GWAS751449_Hage at menarche QTL GWAS751449 (human)0.0000002age at menarche87678330876783309Human
406933067GWAS582043_Hnon-melanoma skin carcinoma QTL GWAS582043 (human)0.000004non-melanoma skin carcinoma87681475176814752Human
407091150GWAS740126_Hage at menopause QTL GWAS740126 (human)3e-08age at menopause87674170976741710Human
407035788GWAS684764_Hbody height QTL GWAS684764 (human)4e-15body height (VT:0001253)body height (CMO:0000106)87684968376849684Human
407310408GWAS959384_Hpulse pressure measurement QTL GWAS959384 (human)3e-12pulse pressure measurementpulse pressure (CMO:0000292)87675080276750803Human
407064908GWAS713884_Happendicular lean mass QTL GWAS713884 (human)8e-09appendicular lean mass87684968376849684Human
407040276GWAS689252_Hunipolar depression QTL GWAS689252 (human)5e-09unipolar depression87672110876721109Human
406932827GWAS581803_Hnon-melanoma skin carcinoma QTL GWAS581803 (human)0.0000008non-melanoma skin carcinoma87669437476694375Human
407266535GWAS915511_Hbody height QTL GWAS915511 (human)2e-18body height (VT:0001253)body height (CMO:0000106)87676863076768631Human
407360738GWAS1009714_Hinsomnia QTL GWAS1009714 (human)1e-09insomnia87680819176808192Human
407360737GWAS1009713_Hinsomnia QTL GWAS1009713 (human)1e-10insomnia87673111276731113Human
407288367GWAS937343_Hinsomnia QTL GWAS937343 (human)2e-10insomnia87669939076699391Human
407082985GWAS731961_Hage at menarche QTL GWAS731961 (human)2e-08age at menarche87676307676763077Human
407266540GWAS915516_Hbody height QTL GWAS915516 (human)2e-16body height (VT:0001253)body height (CMO:0000106)87681528076815281Human
407303276GWAS952252_Hlean body mass QTL GWAS952252 (human)6e-11body lean mass (VT:0010483)total body lean mass (CMO:0003950)87684968376849684Human
407202037GWAS851013_Happendicular lean mass QTL GWAS851013 (human)5e-16appendicular lean mass87684968376849684Human
407396668GWAS1045644_Hpulse pressure measurement QTL GWAS1045644 (human)1e-17pulse pressure measurementpulse pressure (CMO:0000292)87671978276719783Human
406960756GWAS609732_Hsynophrys measurement QTL GWAS609732 (human)6e-21synophrys measurement87674640976746410Human
1300005BP49_HBlood pressure QTL 49 (human)2.240.00066Blood pressuresystolic85317742079177420Human
407288368GWAS937344_Hinsomnia QTL GWAS937344 (human)2e-09insomnia87678005576780056Human
407288369GWAS937345_Hinsomnia QTL GWAS937345 (human)5e-08insomnia87680819176808192Human
407220798GWAS869774_Hbrain volume measurement QTL GWAS869774 (human)2e-10brain volume measurementbrain morphological measurement (CMO:0000136)87668340776683408Human
407062207GWAS711183_Happendicular lean mass QTL GWAS711183 (human)1e-08appendicular lean mass87684968376849684Human

Markers in Region
D8S1134  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37877,625,457 - 77,625,601UniSTSGRCh37
Build 36877,788,012 - 77,788,156RGDNCBI36
Celera873,618,824 - 73,618,968RGD
Cytogenetic Map8q21.11UniSTS
HuRef873,111,771 - 73,111,915UniSTS
Marshfield Genetic Map896.21UniSTS
Marshfield Genetic Map896.21RGD
Whitehead-YAC Contig Map8 UniSTS
RH68544  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37877,658,184 - 77,658,310UniSTSGRCh37
Build 36877,820,739 - 77,820,865RGDNCBI36
Celera873,651,550 - 73,651,676RGD
Cytogenetic Map8q21.11UniSTS
HuRef873,144,501 - 73,144,627UniSTS
GeneMap99-GB4 RH Map8393.86UniSTS
SHGC-84084  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37877,652,882 - 77,653,160UniSTSGRCh37
Build 36877,815,437 - 77,815,715RGDNCBI36
Celera873,646,248 - 73,646,526RGD
Cytogenetic Map8q21.11UniSTS
HuRef873,139,199 - 73,139,477UniSTS
TNG Radiation Hybrid Map838659.0UniSTS
RH121734  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37877,628,830 - 77,629,171UniSTSGRCh37
Build 36877,791,385 - 77,791,726RGDNCBI36
Celera873,622,197 - 73,622,538RGD
Cytogenetic Map8q21.11UniSTS
HuRef873,115,144 - 73,115,485UniSTS
TNG Radiation Hybrid Map838671.0UniSTS
SHGC-148315  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37877,725,501 - 77,725,785UniSTSGRCh37
Build 36877,888,056 - 77,888,340RGDNCBI36
Celera873,718,867 - 73,719,151RGD
Cytogenetic Map8q21.11UniSTS
HuRef873,211,816 - 73,212,100UniSTS
TNG Radiation Hybrid Map838620.0UniSTS
SHGC-57975  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37877,731,794 - 77,731,898UniSTSGRCh37
Build 36877,894,349 - 77,894,453RGDNCBI36
Celera873,725,159 - 73,725,263RGD
Cytogenetic Map8q21.11UniSTS
HuRef873,218,108 - 73,218,212UniSTS
TNG Radiation Hybrid Map838626.0UniSTS
STS-AA010197  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37877,775,372 - 77,775,597UniSTSGRCh37
Build 36877,937,927 - 77,938,152RGDNCBI36
Celera873,768,749 - 73,768,974RGD
Cytogenetic Map8q21.11UniSTS
HuRef873,261,470 - 73,261,695UniSTS
GeneMap99-GB4 RH Map8393.42UniSTS
NCBI RH Map8852.9UniSTS
RH45950  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37877,776,557 - 77,776,711UniSTSGRCh37
Build 36877,939,112 - 77,939,266RGDNCBI36
Celera873,769,934 - 73,770,088RGD
Cytogenetic Map8q21.11UniSTS
HuRef873,262,655 - 73,262,809UniSTS
GeneMap99-GB4 RH Map8396.47UniSTS
D8S1081  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37877,621,907 - 77,622,109UniSTSGRCh37
Build 36877,784,462 - 77,784,664RGDNCBI36
Celera873,615,274 - 73,615,476RGD
Cytogenetic Map8q21.11UniSTS
HuRef873,108,219 - 73,108,423UniSTS
Whitehead-RH Map8482.4UniSTS
ZFH4__4938  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37877,776,140 - 77,776,907UniSTSGRCh37
Build 36877,938,695 - 77,939,462RGDNCBI36
Celera873,769,517 - 73,770,284RGD
HuRef873,262,238 - 73,263,005UniSTS
UniSTS:481900  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37877,775,801 - 77,776,822UniSTSGRCh37
Celera873,769,178 - 73,770,199UniSTS
HuRef873,261,899 - 73,262,920UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2339 2788 2226 4951 1711 2300 4 619 1346 460 2251 6587 5872 49 3732 804 1706 1570 173 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001410934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB083343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC023200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC087110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY260762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC085610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX649074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA430749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR933619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA658176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF584222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000458716
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl876,681,280 - 76,708,258 (+)Ensembl
Ensembl Acc Id: ENST00000517585   ⟹   ENSP00000427775
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl876,693,406 - 76,704,554 (+)Ensembl
Ensembl Acc Id: ENST00000517683
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl876,681,239 - 76,778,439 (+)Ensembl
Ensembl Acc Id: ENST00000518282   ⟹   ENSP00000430848
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl876,704,045 - 76,865,923 (+)Ensembl
Ensembl Acc Id: ENST00000519536   ⟹   ENSP00000430375
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl876,778,288 - 76,849,071 (+)Ensembl
Ensembl Acc Id: ENST00000520307   ⟹   ENSP00000428525
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl876,682,527 - 76,704,554 (+)Ensembl
Ensembl Acc Id: ENST00000522409
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl876,849,800 - 76,850,945 (+)Ensembl
Ensembl Acc Id: ENST00000523625   ⟹   ENSP00000431101
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl876,778,282 - 76,849,708 (+)Ensembl
Ensembl Acc Id: ENST00000523809   ⟹   ENSP00000427739
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl876,693,433 - 76,704,508 (+)Ensembl
Ensembl Acc Id: ENST00000523885   ⟹   ENSP00000429495
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl876,683,781 - 76,851,917 (+)Ensembl
Ensembl Acc Id: ENST00000524290
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl876,778,288 - 76,833,626 (+)Ensembl
Ensembl Acc Id: ENST00000650716
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl876,776,388 - 76,851,907 (+)Ensembl
Ensembl Acc Id: ENST00000651020   ⟹   ENSP00000498249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl876,706,539 - 76,851,793 (+)Ensembl
Ensembl Acc Id: ENST00000651372   ⟹   ENSP00000498627
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl876,681,247 - 76,867,281 (+)Ensembl
RefSeq Acc Id: NM_001410934   ⟹   NP_001397863
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38876,681,247 - 76,867,281 (+)NCBI
T2T-CHM13v2.0877,110,392 - 77,296,418 (+)NCBI
RefSeq Acc Id: NM_024721   ⟹   NP_078997
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38876,681,247 - 76,867,281 (+)NCBI
GRCh37877,593,515 - 77,779,521 (+)RGD
Build 36877,756,070 - 77,942,076 (+)NCBI Archive
Celera873,586,882 - 73,772,899 (+)RGD
HuRef873,079,827 - 73,265,620 (+)RGD
CHM1_1877,645,108 - 77,831,116 (+)NCBI
T2T-CHM13v2.0877,110,392 - 77,296,418 (+)NCBI
Sequence:
RefSeq Acc Id: NP_078997   ⟸   NM_024721
- Peptide Label: isoform 1
- UniProtKB: Q6ZN20 (UniProtKB/Swiss-Prot),   Q18PS0 (UniProtKB/Swiss-Prot),   G3V138 (UniProtKB/Swiss-Prot),   Q86UP3 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000427775   ⟸   ENST00000517585
Ensembl Acc Id: ENSP00000430848   ⟸   ENST00000518282
Ensembl Acc Id: ENSP00000430375   ⟸   ENST00000519536
Ensembl Acc Id: ENSP00000498627   ⟸   ENST00000651372
Ensembl Acc Id: ENSP00000498249   ⟸   ENST00000651020
Ensembl Acc Id: ENSP00000428525   ⟸   ENST00000520307
Ensembl Acc Id: ENSP00000427739   ⟸   ENST00000523809
Ensembl Acc Id: ENSP00000429495   ⟸   ENST00000523885
Ensembl Acc Id: ENSP00000431101   ⟸   ENST00000523625
RefSeq Acc Id: NP_001397863   ⟸   NM_001410934
- Peptide Label: isoform 2
- UniProtKB: E7EVZ1 (UniProtKB/TrEMBL)
Protein Domains
C2H2-type   Homeobox

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q86UP3-F1-model_v2 AlphaFold Q86UP3 1-1400 view protein structure
AF-Q86UP3-F2-model_v2 AlphaFold Q86UP3 201-1600 view protein structure
AF-Q86UP3-F3-model_v2 AlphaFold Q86UP3 401-1800 view protein structure
AF-Q86UP3-F4-model_v2 AlphaFold Q86UP3 601-2000 view protein structure
AF-Q86UP3-F5-model_v2 AlphaFold Q86UP3 801-2200 view protein structure
AF-Q86UP3-F6-model_v2 AlphaFold Q86UP3 1001-2400 view protein structure
AF-Q86UP3-F7-model_v2 AlphaFold Q86UP3 1201-2600 view protein structure
AF-Q86UP3-F8-model_v2 AlphaFold Q86UP3 1401-2800 view protein structure
AF-Q86UP3-F9-model_v2 AlphaFold Q86UP3 1601-3000 view protein structure
AF-Q86UP3-F10-model_v2 AlphaFold Q86UP3 1801-3200 view protein structure
AF-Q86UP3-F11-model_v2 AlphaFold Q86UP3 2001-3400 view protein structure
AF-Q86UP3-F12-model_v2 AlphaFold Q86UP3 2201-3567 view protein structure

Promoters
RGD ID:6807171
Promoter ID:HG_KWN:61555
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000050961,   ENST00000399468,   NM_024721,   UC003YAT.1,   UC003YAU.1,   UC003YAV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36877,755,856 - 77,756,507 (+)MPROMDB
RGD ID:6813562
Promoter ID:HG_ACW:77630
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ZFHX4.BAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36877,757,079 - 77,757,579 (+)MPROMDB
RGD ID:6813564
Promoter ID:HG_ACW:77637
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ZFHX4.KAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 36877,930,641 - 77,931,141 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30939 AgrOrtholog
COSMIC ZFHX4 COSMIC
Ensembl Genes ENSG00000091656 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000517585.1 UniProtKB/TrEMBL
  ENST00000518282 ENTREZGENE
  ENST00000518282.5 UniProtKB/TrEMBL
  ENST00000519536.1 UniProtKB/TrEMBL
  ENST00000520307.5 UniProtKB/TrEMBL
  ENST00000523625.5 UniProtKB/TrEMBL
  ENST00000523809.1 UniProtKB/TrEMBL
  ENST00000523885.2 UniProtKB/TrEMBL
  ENST00000651020.1 UniProtKB/TrEMBL
  ENST00000651372 ENTREZGENE
  ENST00000651372.2 UniProtKB/Swiss-Prot
Gene3D-CATH Classic Zinc Finger UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeodomain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000091656 GTEx
HGNC ID HGNC:30939 ENTREZGENE
Human Proteome Map ZFHX4 Human Proteome Map
InterPro Homeobox-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeobox_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeobox_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Matrin/U1-like-C_Znf_C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnFinger_Homeobox_TR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79776 UniProtKB/Swiss-Prot
NCBI Gene 79776 ENTREZGENE
OMIM 606940 OMIM
PANTHER ZINC FINGER HOMEOBOX PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC FINGER HOMEOBOX PROTEIN 4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Homeodomain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-met UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134986366 PharmGKB
PROSITE HOMEOBOX_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HOMEOBOX_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnF_C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnF_U1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Formin homology 2 domain (FH2 domain) UniProtKB/TrEMBL
  SSF46689 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57667 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A494BZV7_HUMAN UniProtKB/TrEMBL
  E5RG79_HUMAN UniProtKB/TrEMBL
  E5RGK3_HUMAN UniProtKB/TrEMBL
  E5RHS1_HUMAN UniProtKB/TrEMBL
  E5RI93_HUMAN UniProtKB/TrEMBL
  E7EVZ1 ENTREZGENE, UniProtKB/TrEMBL
  G3V138 ENTREZGENE
  H0YBV0_HUMAN UniProtKB/TrEMBL
  H0YC81_HUMAN UniProtKB/TrEMBL
  L8E970_HUMAN UniProtKB/TrEMBL
  Q18PS0 ENTREZGENE
  Q5U3C1_HUMAN UniProtKB/TrEMBL
  Q6DK57_HUMAN UniProtKB/TrEMBL
  Q6ZN20 ENTREZGENE
  Q86UP3 ENTREZGENE
  Q86WW5_HUMAN UniProtKB/TrEMBL
  ZFHX4_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary G3V138 UniProtKB/Swiss-Prot
  Q18PS0 UniProtKB/Swiss-Prot
  Q6ZN20 UniProtKB/Swiss-Prot