HDAC8 (histone deacetylase 8) - Rat Genome Database

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Gene: HDAC8 (histone deacetylase 8) Homo sapiens
Analyze
Symbol: HDAC8
Name: histone deacetylase 8
RGD ID: 1344478
HGNC Page HGNC:13315
Description: Enables heat shock protein binding activity and histone modifying activity. Involved in several processes, including mitotic sister chromatid cohesion; negative regulation of protein ubiquitination; and regulation of protein stability. Predicted to be located in cytoplasm; nuclear chromosome; and nucleoplasm. Predicted to be part of histone deacetylase complex. Predicted to be active in nucleus. Implicated in Cornelia de Lange syndrome 5 and Wilson-Turner syndrome. Biomarker of Hirschsprung's disease and chronic obstructive pulmonary disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CDA07; CDLS5; HD8; HDACL1; histone deacetylase-like 1; KDAC8; MRXS6; RPD3; Wilson-Turner syndrome (mental retardation, X-linked, syndromic-6, with gynecomastia and obesity); Wilson-Turner X-linked mental retardation syndrome; WTS
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X72,329,516 - 72,572,843 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX72,329,516 - 72,573,101 (-)EnsemblGRCh38hg38GRCh38
GRCh37X71,549,366 - 71,792,693 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X71,466,091 - 71,709,378 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X71,332,387 - 71,575,674NCBI
CeleraX71,892,584 - 72,136,175 (-)NCBICelera
Cytogenetic MapXq13.1NCBI
HuRefX65,303,729 - 65,547,461 (-)NCBIHuRef
CHM1_1X71,442,370 - 71,685,931 (-)NCBICHM1_1
T2T-CHM13v2.0X70,762,405 - 71,005,758 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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

Human Phenotype
Abnormal cardiovascular system morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal morphology of ulna  (IAGP)
Abnormality of speech or vocalization  (IAGP)
Abnormality of the uterus  (IAGP)
Abnormally low-pitched voice  (IAGP)
Anteverted nares  (IAGP)
Anxiety  (IAGP)
Aplasia/Hypoplasia of the cerebellum  (IAGP)
Atresia of the external auditory canal  (IAGP)
Atrial septal defect  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Atypical behavior  (IAGP)
Autism  (IAGP)
Bilateral single transverse palmar creases  (IAGP)
Blepharitis  (IAGP)
Brachycephaly  (IAGP)
Broad nasal tip  (IAGP)
Cataract  (IAGP)
Cerebral cortical atrophy  (IAGP)
Choanal atresia  (IAGP)
Cleft palate  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Compulsive behaviors  (IAGP)
Conductive hearing impairment  (IAGP)
Congenital diaphragmatic hernia  (IAGP)
Cryptorchidism  (IAGP)
Curly eyelashes  (IAGP)
Cutis marmorata  (IAGP)
Decreased testicular size  (IAGP)
Deeply set eye  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed puberty  (IAGP)
Delayed skeletal maturation  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Downturned corners of mouth  (IAGP)
Elbow dislocation  (IAGP)
Emotional lability  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties in infancy  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hirsutism  (IAGP)
Generalized hypotonia  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Gynecomastia  (IAGP)
Happy demeanor  (IAGP)
Hearing impairment  (IAGP)
High palate  (IAGP)
Highly arched eyebrow  (IAGP)
Hip dislocation  (IAGP)
Hip dysplasia  (IAGP)
Hirsutism  (IAGP)
Hypermetropia  (IAGP)
Hypertelorism  (IAGP)
Hypertonia  (IAGP)
Hypogonadism  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplastic labia majora  (IAGP)
Hypoplastic nipples  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Increased nuchal translucency  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, severe  (IAGP)
Intestinal malrotation  (IAGP)
Intrauterine growth retardation  (IAGP)
Joint stiffness  (IAGP)
Limited elbow extension  (IAGP)
Long eyelashes  (IAGP)
Long philtrum  (IAGP)
Low anterior hairline  (IAGP)
Low posterior hairline  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Macrotia  (IAGP)
Malar prominence  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Micrognathia  (IAGP)
Micromelia  (IAGP)
Micropenis  (IAGP)
Microtia  (IAGP)
Multicystic kidney dysplasia  (IAGP)
Myopia  (IAGP)
Nevus  (IAGP)
Nystagmus  (IAGP)
Oligodactyly  (IAGP)
Pectus excavatum  (IAGP)
Peripheral neuropathy  (IAGP)
Pes cavus  (IAGP)
Pes planus  (IAGP)
Phthisis bulbi  (IAGP)
Poor speech  (IAGP)
Postnatal growth retardation  (IAGP)
Premature birth  (IAGP)
Prenatal movement abnormality  (IAGP)
Primary amenorrhea  (IAGP)
Prominent nasal bridge  (IAGP)
Prominent supraorbital ridges  (IAGP)
Proximal placement of thumb  (IAGP)
Ptosis  (IAGP)
Pyloric stenosis  (IAGP)
Radioulnar synostosis  (IAGP)
Renal insufficiency  (IAGP)
Retrognathia  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe postnatal growth retardation  (IAGP)
Short 1st metacarpal  (IAGP)
Short foot  (IAGP)
Short neck  (IAGP)
Short nose  (IAGP)
Short stature  (IAGP)
Sleep abnormality  (IAGP)
Small hand  (IAGP)
Sparse scalp hair  (IAGP)
Specific learning disability  (IAGP)
Strabismus  (IAGP)
Synophrys  (IAGP)
Talipes  (IAGP)
Tapered finger  (IAGP)
Telecanthus  (IAGP)
Thick eyebrow  (IAGP)
Thin upper lip vermilion  (IAGP)
Thin vermilion border  (IAGP)
Toe syndactyly  (IAGP)
Truncal obesity  (IAGP)
Uplifted earlobe  (IAGP)
Variable expressivity  (IAGP)
Ventricular septal defect  (IAGP)
Ventriculomegaly  (IAGP)
Vesicoureteral reflux  (IAGP)
Volvulus  (IAGP)
Widely spaced teeth  (IAGP)
X-linked dominant inheritance  (IAGP)
X-linked inheritance  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face. Harakalova M, etal., J Med Genet. 2012 Aug;49(8):539-43. doi: 10.1136/jmedgenet-2012-100921.
3. Decreased histone deacetylase activity in chronic obstructive pulmonary disease. Ito K, etal., N Engl J Med. 2005 May 12;352(19):1967-76.
4. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Kaiser FJ, etal., Hum Mol Genet. 2014 Jun 1;23(11):2888-900. doi: 10.1093/hmg/ddu002. Epub 2014 Jan 8.
5. HDAC inhibition suppresses cardiac hypertrophy and fibrosis in DOCA-salt hypertensive rats via regulation of HDAC6/HDAC8 enzyme activity. Kee HJ, etal., Kidney Blood Press Res. 2013;37(4-5):229-39. doi: 10.1159/000350148. Epub 2013 Jul 8.
6. Expression of Class I and Class II a/b Histone Deacetylase is Dysregulated in Hypertensive Animal Models. Kee HJ, etal., Korean Circ J. 2017 May;47(3):392-400. doi: 10.4070/kcj.2016.0266. Epub 2017 May 12.
7. Roles of HDAC2 and HDAC8 in Cardiac Remodeling in Renovascular Hypertensive Rats and the Effects of Valproic Acid Sodium. Li RF, etal., Pharmacology. 2017;99(1-2):27-39. doi: 10.1159/000449467. Epub 2016 Sep 27.
8. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
9. Differential effects of binge methamphetamine injections on the mRNA expression of histone deacetylases (HDACs) in the rat striatum. Omonijo O, etal., Neurotoxicology. 2014 Oct 27;45C:178-184. doi: 10.1016/j.neuro.2014.10.008.
10. Physical and functional HAT/HDAC interplay regulates protein acetylation balance. Peserico A and Simone C, J Biomed Biotechnol. 2011;2011:371832. doi: 10.1155/2011/371832. Epub 2010 Dec 5.
11. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
12. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
13. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
14. Novel smooth muscle markers reveal abnormalities of the intestinal musculature in severe colorectal motility disorders. Wedel T, etal., Neurogastroenterol Motil. 2006 Jul;18(7):526-38.
15. miR-21-3p regulates cardiac hypertrophic response by targeting histone deacetylase-8. Yan M, etal., Cardiovasc Res. 2015 Mar 1;105(3):340-52. doi: 10.1093/cvr/cvu254. Epub 2014 Dec 10.
Additional References at PubMed
PMID:1605216   PMID:1746601   PMID:8889548   PMID:10748112   PMID:10756090   PMID:10922473   PMID:10926844   PMID:11533236   PMID:12082111   PMID:12477932   PMID:12509458   PMID:12711221  
PMID:14578343   PMID:14684825   PMID:14701748   PMID:14702039   PMID:15342556   PMID:15477595   PMID:15590418   PMID:15772115   PMID:16681389   PMID:16809764   PMID:17721440   PMID:17786334  
PMID:18256683   PMID:19053282   PMID:19070599   PMID:19118036   PMID:19140693   PMID:19355988   PMID:19913121   PMID:20029090   PMID:20301283   PMID:20301533   PMID:20484414   PMID:20545365  
PMID:20628086   PMID:21455583   PMID:21499270   PMID:21790156   PMID:21873635   PMID:22046129   PMID:22391568   PMID:22885700   PMID:22944197   PMID:23111066   PMID:23430957   PMID:23482931  
PMID:23752268   PMID:24077923   PMID:24171457   PMID:24404147   PMID:24920679   PMID:25011684   PMID:25075551   PMID:25321483   PMID:25407689   PMID:25451941   PMID:25516458   PMID:25605725  
PMID:25793284   PMID:25836739   PMID:26200462   PMID:26221039   PMID:26383163   PMID:26387755   PMID:26389662   PMID:26402585   PMID:26412386   PMID:26463496   PMID:26671848   PMID:26679995  
PMID:26760575   PMID:26792731   PMID:26806311   PMID:26923266   PMID:26933971   PMID:26996235   PMID:27072133   PMID:27283490   PMID:27374062   PMID:27420561   PMID:27576763   PMID:27638301  
PMID:27933794   PMID:28004115   PMID:28232663   PMID:28319085   PMID:28390197   PMID:28497810   PMID:28509866   PMID:28581483   PMID:28611215   PMID:28749131   PMID:28846375   PMID:28937750  
PMID:29035536   PMID:29279609   PMID:29519750   PMID:29716651   PMID:29991052   PMID:30054507   PMID:30063117   PMID:30246374   PMID:30358439   PMID:30426726   PMID:30582912   PMID:30987999  
PMID:31402267   PMID:31421254   PMID:31508813   PMID:31605710   PMID:31606091   PMID:31633931   PMID:31730902   PMID:31741433   PMID:31748509   PMID:31907955   PMID:31970414   PMID:32171858  
PMID:32315388   PMID:32429642   PMID:32499521   PMID:32591593   PMID:32737323   PMID:33098347   PMID:33190829   PMID:33279948   PMID:33316326   PMID:33660365   PMID:34064422   PMID:34072831  
PMID:34315543   PMID:35777798   PMID:35944360   PMID:36250286   PMID:36911746   PMID:37227732   PMID:38030596   PMID:38151017   PMID:38182151  


Genomics

Comparative Map Data
HDAC8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X72,329,516 - 72,572,843 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX72,329,516 - 72,573,101 (-)EnsemblGRCh38hg38GRCh38
GRCh37X71,549,366 - 71,792,693 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X71,466,091 - 71,709,378 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X71,332,387 - 71,575,674NCBI
CeleraX71,892,584 - 72,136,175 (-)NCBICelera
Cytogenetic MapXq13.1NCBI
HuRefX65,303,729 - 65,547,461 (-)NCBIHuRef
CHM1_1X71,442,370 - 71,685,931 (-)NCBICHM1_1
T2T-CHM13v2.0X70,762,405 - 71,005,758 (-)NCBIT2T-CHM13v2.0
Hdac8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X101,328,244 - 101,549,005 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX101,328,245 - 101,548,965 (-)EnsemblGRCm39 Ensembl
GRCm38X102,284,638 - 102,505,381 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX102,284,639 - 102,505,359 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X99,479,979 - 99,700,487 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X98,487,359 - 98,707,867 (-)NCBIMGSCv36mm8
CeleraX89,195,856 - 89,416,063 (-)NCBICelera
Cytogenetic MapXDNCBI
cM MapX45.28NCBI
Hdac8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X71,425,240 - 71,632,865 (-)NCBIGRCr8
mRatBN7.2X67,385,288 - 67,593,014 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX67,385,289 - 67,592,923 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX68,868,650 - 69,076,271 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X72,368,892 - 72,576,504 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X69,930,041 - 70,137,656 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X72,163,777 - 72,370,058 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX72,163,777 - 72,370,044 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X73,566,613 - 73,589,000 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0X73,694,610 - 73,698,948 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X90,336,001 - 90,544,511 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
CeleraX67,738,891 - 67,946,303 (-)NCBICelera
Cytogenetic MapXq22NCBI
Hdac8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547511,748,365 - 12,013,241 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495547511,748,502 - 12,012,884 (-)NCBIChiLan1.0ChiLan1.0
HDAC8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X72,002,591 - 72,248,461 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X72,006,198 - 72,252,066 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X61,565,790 - 61,811,588 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X71,649,178 - 71,894,896 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX71,649,341 - 71,894,896 (-)Ensemblpanpan1.1panPan2
HDAC8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X56,357,205 - 56,574,443 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX56,357,177 - 56,574,401 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX47,183,095 - 47,400,619 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X57,411,265 - 57,628,877 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX57,411,268 - 57,628,840 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X55,325,722 - 55,544,604 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X56,723,145 - 56,940,470 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X56,571,889 - 56,789,465 (-)NCBIUU_Cfam_GSD_1.0
Hdac8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X45,327,793 - 45,554,498 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367621,425,335 - 1,652,063 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367621,425,337 - 1,652,058 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HDAC8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX58,210,192 - 58,450,573 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X58,210,182 - 58,450,681 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
HDAC8
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X62,154,374 - 62,393,149 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX62,154,365 - 62,393,196 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660654,003,868 - 4,261,439 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hdac8
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249032,620,501 - 2,852,822 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249032,620,571 - 2,852,247 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in HDAC8
250 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_018486.3(HDAC8):c.738-9981del deletion not provided [RCV000722779] ChrX:72474712 [GRCh38]
ChrX:71694562 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.104_105del (p.Pro35fs) deletion Cornelia de Lange syndrome 5 [RCV000656365] ChrX:72572657..72572658 [GRCh38]
ChrX:71792507..71792508 [GRCh37]
ChrX:Xq13.1		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|likely pathogenic|conflicting data from submitters
NM_018486.3(HDAC8):c.164+5G>A single nucleotide variant Cornelia de Lange syndrome 5 [RCV000030813]|HDAC8-related condition [RCV003415747] ChrX:72572052 [GRCh38]
ChrX:71791902 [GRCh37]
ChrX:Xq13.1		 pathogenic
NM_018486.3(HDAC8):c.356C>T (p.Thr119Met) single nucleotide variant Cornelia de Lange syndrome 5 [RCV000077779] ChrX:72567970 [GRCh38]
ChrX:71787820 [GRCh37]
ChrX:Xq13.1		 pathogenic|conflicting interpretations of pathogenicity
NM_018486.3(HDAC8):c.490C>T (p.Arg164Ter) single nucleotide variant Cornelia de Lange syndrome 5 [RCV000032915]|not provided [RCV000480167] ChrX:72495216 [GRCh38]
ChrX:71715066 [GRCh37]
ChrX:Xq13.1		 pathogenic
NM_018486.3(HDAC8):c.539A>G (p.His180Arg) single nucleotide variant Cornelia de Lange syndrome 5 [RCV000032916] ChrX:72495167 [GRCh38]
ChrX:71715017 [GRCh37]
ChrX:Xq13.1		 pathogenic
NM_018486.3(HDAC8):c.932C>T (p.Thr311Met) single nucleotide variant Cornelia de Lange syndrome 5 [RCV000032917]|Inborn genetic diseases [RCV000624803]|not provided [RCV002264910] ChrX:72462077 [GRCh38]
ChrX:71681927 [GRCh37]
ChrX:Xq13.1		 pathogenic|likely pathogenic
NM_018486.3(HDAC8):c.958G>A (p.Gly320Arg) single nucleotide variant Cornelia de Lange syndrome 5 [RCV000032918]|Inborn genetic diseases [RCV002381278]|Intellectual disability [RCV001030829]|not provided [RCV001588839]|not specified [RCV000211117] ChrX:72462051 [GRCh38]
ChrX:71681901 [GRCh37]
ChrX:Xq13.1		 pathogenic|likely pathogenic|uncertain significance
NM_018486.3(HDAC8):c.1001A>G (p.His334Arg) single nucleotide variant Cornelia de Lange syndrome 5 [RCV000032919] ChrX:72462008 [GRCh38]
ChrX:71681858 [GRCh37]
ChrX:Xq13.1		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq12-21.1(chrX:67621041-76868590)x2 copy number gain See cases [RCV000052416] ChrX:67621041..76868590 [GRCh38]
ChrX:66840883..76009501 [GRCh37]
ChrX:66757608..76005403 [NCBI36]
ChrX:Xq12-21.1		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq12-13.3(chrX:68382004-75243150)x2 copy number gain See cases [RCV000052417] ChrX:68382004..75243150 [GRCh38]
ChrX:67601846..74462985 [GRCh37]
ChrX:67518571..74379710 [NCBI36]
ChrX:Xq12-13.3		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
NM_018486.3(HDAC8):c.111+34T>G single nucleotide variant not provided [RCV001565112] ChrX:72572617 [GRCh38]
ChrX:71792467 [GRCh37]
ChrX:Xq13.1		 likely benign
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
NM_018486.3(HDAC8):c.-5G>T single nucleotide variant Cornelia de Lange syndrome 5 [RCV000146086] ChrX:72572766 [GRCh38]
ChrX:71792616 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.131del (p.Ser43_Leu44insTer) deletion Cornelia de Lange syndrome 5 [RCV000146087] ChrX:72572090 [GRCh38]
ChrX:71791940 [GRCh37]
ChrX:Xq13.1		 pathogenic
NM_018486.3(HDAC8):c.159G>A (p.Gln53=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV001514283]|Inborn genetic diseases [RCV002312642]|not specified [RCV000146088] ChrX:72572062 [GRCh38]
ChrX:71791912 [GRCh37]
ChrX:Xq13.1		 benign
NM_018486.3(HDAC8):c.24G>A (p.Ala8=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV000146089] ChrX:72572738 [GRCh38]
ChrX:71792588 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.421_423del (p.Trp141del) deletion Cornelia de Lange syndrome 5 [RCV000146090] ChrX:72567903..72567905 [GRCh38]
ChrX:71787753..71787755 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.438-15C>T single nucleotide variant Cornelia de Lange syndrome 5 [RCV002055891]|not specified [RCV000146091] ChrX:72495283 [GRCh38]
ChrX:71715133 [GRCh37]
ChrX:Xq13.1		 benign
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq11.1-21.1(chrX:62712219-78605009)x3 copy number gain See cases [RCV000134569] ChrX:62712219..78605009 [GRCh38]
ChrX:61931689..77860506 [GRCh37]
ChrX:61848414..77747162 [NCBI36]
ChrX:Xq11.1-21.1		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31		 pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1		 pathogenic|likely benign
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3		 pathogenic|likely benign
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3		 pathogenic
GRCh38/hg38 Xq13.1(chrX:71810439-72381499)x3 copy number gain See cases [RCV000138759] ChrX:71810439..72381499 [GRCh38]
ChrX:71030289..71530833 [GRCh37]
ChrX:70947014..71518074 [NCBI36]
ChrX:Xq13.1		 likely benign
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3		 pathogenic
GRCh38/hg38 Xq13.1(chrX:72351800-72942215)x3 copy number gain See cases [RCV000138332] ChrX:72351800..72942215 [GRCh38]
ChrX:71488375..72078779 [NCBI36]
ChrX:Xq13.1		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic|likely benign
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic|conflicting data from submitters
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24		 pathogenic
GRCh38/hg38 Xq12-21.1(chrX:66445907-78172208)x3 copy number gain See cases [RCV000142336] ChrX:66445907..78172208 [GRCh38]
ChrX:65665749..77427705 [GRCh37]
ChrX:65582474..77314361 [NCBI36]
ChrX:Xq12-21.1		 pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp11.21-q13.3(chrX:56431359-76557419)x1 copy number loss See cases [RCV000143131] ChrX:56431359..76557419 [GRCh38]
ChrX:56457792..75777827 [GRCh37]
ChrX:56474517..75694231 [NCBI36]
ChrX:Xp11.21-q13.3		 pathogenic
NC_000023.10:g.71681853_72434328del752476 deletion Cornelia de Lange syndrome 5 [RCV000191047] ChrX:71681853..72434328 [GRCh37]
ChrX:Xq13.1-13.2		 pathogenic|likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
NM_018486.3(HDAC8):c.522C>A (p.Tyr174Ter) single nucleotide variant Cornelia de Lange syndrome 5 [RCV000515541] ChrX:72495184 [GRCh38]
ChrX:71715034 [GRCh37]
ChrX:Xq13.1		 pathogenic
NM_018486.3(HDAC8):c.907G>T (p.Gly303Ter) single nucleotide variant not provided [RCV000255168] ChrX:72464562 [GRCh38]
ChrX:71684412 [GRCh37]
ChrX:Xq13.1		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_018486.3(HDAC8):c.770C>A (p.Pro257His) single nucleotide variant Cornelia de Lange syndrome 5 [RCV000192571] ChrX:72464699 [GRCh38]
ChrX:71684549 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
NM_018486.3(HDAC8):c.20C>G (p.Pro7Arg) single nucleotide variant Cornelia de Lange syndrome 5 [RCV002056989]|Inborn genetic diseases [RCV002415825]|not provided [RCV003436991]|not specified [RCV000192630] ChrX:72572742 [GRCh38]
ChrX:71792592 [GRCh37]
ChrX:Xq13.1		 benign|likely benign
NM_018486.3(HDAC8):c.229C>T (p.Gln77Ter) single nucleotide variant Cornelia de Lange syndrome 5 [RCV000193465] ChrX:72568820 [GRCh38]
ChrX:71788670 [GRCh37]
ChrX:Xq13.1		 pathogenic
NM_018486.3(HDAC8):c.1006-2A>G single nucleotide variant Cornelia de Lange syndrome 5 [RCV000196804] ChrX:72351840 [GRCh38]
ChrX:71571690 [GRCh37]
ChrX:Xq13.1		 pathogenic|likely pathogenic
NM_018486.3(HDAC8):c.556G>A (p.Glu186Lys) single nucleotide variant Cornelia de Lange syndrome 5 [RCV000194360] ChrX:72491001 [GRCh38]
ChrX:71710851 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
NM_018486.3(HDAC8):c.134_137del (p.Ile45fs) microsatellite Cornelia de Lange syndrome 5 [RCV000194427] ChrX:72572084..72572087 [GRCh38]
ChrX:71791934..71791937 [GRCh37]
ChrX:Xq13.1		 pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
Single allele deletion Intestinal malrotation [RCV000754989] ChrX:71728056..72215882 [GRCh37]
ChrX:Xq13.1-13.2		 pathogenic
NM_018486.3(HDAC8):c.737+1G>A single nucleotide variant Cornelia de Lange syndrome 5 [RCV000209849] ChrX:72488932 [GRCh38]
ChrX:71708782 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
NM_018486.3(HDAC8):c.416G>C (p.Gly139Ala) single nucleotide variant Inborn genetic diseases [RCV000624825]|not provided [RCV000224545] ChrX:72567910 [GRCh38]
ChrX:71787760 [GRCh37]
ChrX:Xq13.1		 pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.21-q21.1(chrX:55240087-78225374)x1 copy number loss See cases [RCV000511311] ChrX:55240087..78225374 [GRCh37]
ChrX:Xp11.21-q21.1		 pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_018486.3(HDAC8):c.496C>T (p.Arg166Ter) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000856789]|Global developmental delay [RCV000415456]|Inborn genetic diseases [RCV000624895]|not provided [RCV000302320] ChrX:72495210 [GRCh38]
ChrX:71715060 [GRCh37]
ChrX:Xq13.1		 pathogenic
NM_018486.3(HDAC8):c.787C>T (p.Gln263Ter) single nucleotide variant Cornelia de Lange syndrome 5 [RCV000677735]|not provided [RCV000382319] ChrX:72464682 [GRCh38]
ChrX:71684532 [GRCh37]
ChrX:Xq13.1		 pathogenic
NM_018486.3(HDAC8):c.839_843delinsGT (p.Thr280_Pro281delinsSer) indel Cornelia de Lange syndrome 5 [RCV000408608] ChrX:72464626..72464630 [GRCh38]
ChrX:71684476..71684480 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25		 uncertain significance
NM_018486.3(HDAC8):c.738-1del deletion not provided [RCV000522537] ChrX:72464732 [GRCh38]
ChrX:71684582 [GRCh37]
ChrX:Xq13.1		 pathogenic
NM_018486.3(HDAC8):c.527A>G (p.Asp176Gly) single nucleotide variant Cornelia de Lange syndrome 5 [RCV000415301] ChrX:72495179 [GRCh38]
ChrX:71715029 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
NM_018486.3(HDAC8):c.1019A>C (p.Tyr340Ser) single nucleotide variant Cornelia de Lange syndrome 5 [RCV000531363] ChrX:72351825 [GRCh38]
ChrX:71571675 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
NM_018486.3(HDAC8):c.595T>A (p.Ser199Thr) single nucleotide variant not provided [RCV000412785] ChrX:72490962 [GRCh38]
ChrX:71710812 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
NM_018486.3(HDAC8):c.419G>T (p.Gly140Val) single nucleotide variant not provided [RCV000413537] ChrX:72567907 [GRCh38]
ChrX:71787757 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.1-21.1(chrX:71316395-84337550)x3 copy number gain See cases [RCV000447565] ChrX:71316395..84337550 [GRCh37]
ChrX:Xq13.1-21.1		 uncertain significance
GRCh37/hg19 Xq13.1-13.2(chrX:71566947-72016381)x2 copy number gain See cases [RCV000446417] ChrX:71566947..72016381 [GRCh37]
ChrX:Xq13.1-13.2		 uncertain significance
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_018486.3(HDAC8):c.1037T>C (p.Leu346Pro) single nucleotide variant not provided [RCV000422847] ChrX:72351807 [GRCh38]
ChrX:71571657 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.1(chrX:71537559-71609005) copy number gain Abnormal esophagus morphology [RCV000416774] ChrX:71537559..71609005 [GRCh37]
ChrX:Xq13.1		 likely benign
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
NM_018486.3(HDAC8):c.165-2A>G single nucleotide variant not provided [RCV000481940] ChrX:72568886 [GRCh38]
ChrX:71788736 [GRCh37]
ChrX:Xq13.1		 pathogenic
NM_018486.3(HDAC8):c.164_164+1delinsCT indel not provided [RCV000480268] ChrX:72572056..72572057 [GRCh38]
ChrX:71791906..71791907 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_018486.3(HDAC8):c.628+5G>C single nucleotide variant not specified [RCV000501973] ChrX:72490924 [GRCh38]
ChrX:71710774 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.1081C>T (p.Arg361Ter) single nucleotide variant Cornelia de Lange syndrome 5 [RCV000497470] ChrX:72351763 [GRCh38]
ChrX:71571613 [GRCh37]
ChrX:Xq13.1		 pathogenic|likely pathogenic
GRCh37/hg19 Xq13.1(chrX:71529319-71659088)x2 copy number gain See cases [RCV000510331] ChrX:71529319..71659088 [GRCh37]
ChrX:Xq13.1		 uncertain significance
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1		 pathogenic
NM_018486.3(HDAC8):c.635G>T (p.Gly212Val) single nucleotide variant not provided [RCV000494222] ChrX:72489035 [GRCh38]
ChrX:71708885 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28		 pathogenic|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
NM_018486.3(HDAC8):c.1112-2A>G single nucleotide variant Cornelia de Lange syndrome 5 [RCV000494703] ChrX:72330078 [GRCh38]
ChrX:71549928 [GRCh37]
ChrX:Xq13.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_018486.3(HDAC8):c.1046C>T (p.Thr349Met) single nucleotide variant Inborn genetic diseases [RCV003242713] ChrX:72351798 [GRCh38]
ChrX:71571648 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_001410729.1(HDAC8):c.915del (p.Arg306fs) deletion Inborn genetic diseases [RCV000624093] ChrX:72462098 [GRCh38]
ChrX:71681948 [GRCh37]
ChrX:Xq13.1		 pathogenic
NC_000023.10:g.(?_71681834)_(71715138_?)dup duplication Cornelia de Lange syndrome 5 [RCV000650331] ChrX:71681834..71715138 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
NM_018486.3(HDAC8):c.951C>A (p.Tyr317Ter) single nucleotide variant not provided [RCV000627355] ChrX:72462058 [GRCh38]
ChrX:71681908 [GRCh37]
ChrX:Xq13.1		 pathogenic
NM_018486.3(HDAC8):c.80T>C (p.Met27Thr) single nucleotide variant Inborn genetic diseases [RCV003240219] ChrX:72572682 [GRCh38]
ChrX:71792532 [GRCh37]
ChrX:Xq13.1		 uncertain significance
GRCh37/hg19 Xq13.1(chrX:71568282-71769394)x3 copy number gain See cases [RCV000512502] ChrX:71568282..71769394 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3		 pathogenic
NM_018486.3(HDAC8):c.198G>T (p.Glu66Asp) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003651942]|not provided [RCV000513093] ChrX:72568851 [GRCh38]
ChrX:71788701 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.755_761del (p.Tyr252fs) deletion Inborn genetic diseases [RCV000623998] ChrX:72464708..72464714 [GRCh38]
ChrX:71684558..71684564 [GRCh37]
ChrX:Xq13.1		 pathogenic
NM_018486.3(HDAC8):c.584T>G (p.Val195Gly) single nucleotide variant Atrial septal defect [RCV000626947] ChrX:72490973 [GRCh38]
ChrX:71710823 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
NM_018486.3(HDAC8):c.429T>C (p.His143=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV002060906]|Inborn genetic diseases [RCV002316046] ChrX:72567897 [GRCh38]
ChrX:71787747 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.418G>A (p.Gly140Arg) single nucleotide variant Cornelia de Lange syndrome 5 [RCV000679807] ChrX:72567908 [GRCh38]
ChrX:71787758 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.584T>A (p.Val195Asp) single nucleotide variant Cornelia de Lange syndrome 5 [RCV000680269] ChrX:72490973 [GRCh38]
ChrX:71710823 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
NM_018486.3(HDAC8):c.793G>A (p.Gly265Arg) single nucleotide variant Cornelia de Lange syndrome 5 [RCV000680270] ChrX:72464676 [GRCh38]
ChrX:71684526 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
NM_018486.3(HDAC8):c.937C>T (p.Arg313Ter) single nucleotide variant Cornelia de Lange syndrome 1 [RCV001813791]|Cornelia de Lange syndrome 5 [RCV000680271] ChrX:72462072 [GRCh38]
ChrX:71681922 [GRCh37]
ChrX:Xq13.1		 pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31		 pathogenic
GRCh37/hg19 Xq13.1-13.2(chrX:71605730-72138111)x2 copy number gain not provided [RCV000684346] ChrX:71605730..72138111 [GRCh37]
ChrX:Xq13.1-13.2		 uncertain significance
NM_018486.3(HDAC8):c.796G>C (p.Ala266Pro) single nucleotide variant Cornelia de Lange syndrome 5 [RCV000678911] ChrX:72464673 [GRCh38]
ChrX:71684523 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
NM_018486.3(HDAC8):c.737+3A>G single nucleotide variant Cornelia de Lange syndrome 5 [RCV000694152] ChrX:72488930 [GRCh38]
ChrX:71708780 [GRCh37]
ChrX:Xq13.1		 uncertain significance
Single allele deletion Cornelia de Lange syndrome 5 [RCV000708570] ChrX:72570671..72613916 [GRCh38]
ChrX:71790521..71833766 [GRCh37]
ChrX:Xq13.1		 pathogenic
NM_018486.3(HDAC8):c.491G>A (p.Arg164Gln) single nucleotide variant Cornelia de Lange syndrome 5 [RCV002060910]|Inborn genetic diseases [RCV002314390] ChrX:72495215 [GRCh38]
ChrX:71715065 [GRCh37]
ChrX:Xq13.1		 benign|likely benign|uncertain significance
NM_018486.3(HDAC8):c.20C>T (p.Pro7Leu) single nucleotide variant not specified [RCV000736051] ChrX:72572742 [GRCh38]
ChrX:71792592 [GRCh37]
ChrX:Xq13.1		 benign
NM_018486.3(HDAC8):c.281T>C (p.Ile94Thr) single nucleotide variant Cornelia de Lange syndrome 5 [RCV002533046]|Inborn genetic diseases [RCV002317458] ChrX:72568768 [GRCh38]
ChrX:71788618 [GRCh37]
ChrX:Xq13.1		 likely benign|uncertain significance
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2		 pathogenic
GRCh37/hg19 Xq13.1(chrX:71635899-71644999)x3 copy number gain not provided [RCV000753592] ChrX:71635899..71644999 [GRCh37]
ChrX:Xq13.1		 benign
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
NM_018486.3(HDAC8):c.165-305A>C single nucleotide variant not provided [RCV001572447] ChrX:72569189 [GRCh38]
ChrX:71789039 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.111+46T>G single nucleotide variant not provided [RCV001681754] ChrX:72572605 [GRCh38]
ChrX:71792455 [GRCh37]
ChrX:Xq13.1		 benign
NM_018486.3(HDAC8):c.667C>T (p.Arg223Trp) single nucleotide variant Cornelia de Lange syndrome 5 [RCV000761240]|not provided [RCV001662805] ChrX:72489003 [GRCh38]
ChrX:71708853 [GRCh37]
ChrX:Xq13.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 Xq13.1-13.2(chrX:71561387-72080121)x2 copy number gain not provided [RCV000762761] ChrX:71561387..72080121 [GRCh37]
ChrX:Xq13.1-13.2		 likely benign
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3		 pathogenic
NM_018486.3(HDAC8):c.738-1G>A single nucleotide variant Cornelia de Lange syndrome 5 [RCV000990868]|not provided [RCV001702580] ChrX:72464732 [GRCh38]
ChrX:71684582 [GRCh37]
ChrX:Xq13.1		 pathogenic|likely pathogenic
NM_018486.3(HDAC8):c.551-169C>T single nucleotide variant not provided [RCV001570612] ChrX:72491175 [GRCh38]
ChrX:71711025 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.915C>G (p.Gly305=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV001487019] ChrX:72462094 [GRCh38]
ChrX:71681944 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.21G>C (p.Pro7=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV000981145] ChrX:72572741 [GRCh38]
ChrX:71792591 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.351G>T (p.Gly117=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV000871784]|Inborn genetic diseases [RCV002454011] ChrX:72567975 [GRCh38]
ChrX:71787825 [GRCh37]
ChrX:Xq13.1		 benign
NM_018486.3(HDAC8):c.628+5G>A single nucleotide variant not provided [RCV000995957] ChrX:72490924 [GRCh38]
ChrX:71710774 [GRCh37]
ChrX:Xq13.1		 uncertain significance
46,Y,inv(X)(p21.1q13.3) inversion Elevated circulating creatine kinase concentration [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3		 likely pathogenic
NM_018486.3(HDAC8):c.639C>T (p.Asp213=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV002065656]|HDAC8-related condition [RCV003912826] ChrX:72489031 [GRCh38]
ChrX:71708881 [GRCh37]
ChrX:Xq13.1		 benign|likely benign
NM_018486.3(HDAC8):c.522C>T (p.Tyr174=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV002542102] ChrX:72495184 [GRCh38]
ChrX:71715034 [GRCh37]
ChrX:Xq13.1		 benign
NM_018486.3(HDAC8):c.933G>A (p.Thr311=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV002066376]|HDAC8-related condition [RCV003926132] ChrX:72462076 [GRCh38]
ChrX:71681926 [GRCh37]
ChrX:Xq13.1		 benign|likely benign
NM_018486.3(HDAC8):c.516T>A (p.Ile172=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV002065495]|HDAC8-related condition [RCV003968029] ChrX:72495190 [GRCh38]
ChrX:71715040 [GRCh37]
ChrX:Xq13.1		 benign|likely benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
NM_018486.3(HDAC8):c.1112-4_1116del deletion Cornelia de Lange syndrome 1 [RCV000856730] ChrX:72330072..72330080 [GRCh38]
ChrX:71549922..71549930 [GRCh37]
ChrX:Xq13.1		 pathogenic
NM_018486.3(HDAC8):c.165-136A>G single nucleotide variant not provided [RCV000841646] ChrX:72569020 [GRCh38]
ChrX:71788870 [GRCh37]
ChrX:Xq13.1		 benign
NM_018486.3(HDAC8):c.1111+10G>T single nucleotide variant Cornelia de Lange syndrome 5 [RCV002540896] ChrX:72351723 [GRCh38]
ChrX:71571573 [GRCh37]
ChrX:Xq13.1		 benign
NM_018486.3(HDAC8):c.1019A>G (p.Tyr340Cys) single nucleotide variant Cornelia de Lange syndrome 5 [RCV000990867]|not provided [RCV001759679] ChrX:72351825 [GRCh38]
ChrX:71571675 [GRCh37]
ChrX:Xq13.1		 uncertain significance
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_018486.3(HDAC8):c.653G>A (p.Gly218Asp) single nucleotide variant Intellectual disability [RCV000851522] ChrX:72489017 [GRCh38]
ChrX:71708867 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
NM_018486.3(HDAC8):c.111+40T>G single nucleotide variant not provided [RCV000834471] ChrX:72572611 [GRCh38]
ChrX:71792461 [GRCh37]
ChrX:Xq13.1		 benign
NM_018486.3(HDAC8):c.859T>C (p.Cys287Arg) single nucleotide variant Cornelia de Lange syndrome 5 [RCV000985185] ChrX:72464610 [GRCh38]
ChrX:71684460 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
GRCh37/hg19 Xq13.1(chrX:71788603-71792725)x4 copy number gain not provided [RCV001092283] ChrX:71788603..71792725 [GRCh37]
ChrX:Xq13.1		 uncertain significance
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32		 pathogenic
NM_018486.3(HDAC8):c.466A>G (p.Asn156Asp) single nucleotide variant Intellectual disability [RCV000851490]|not provided [RCV001281637] ChrX:72495240 [GRCh38]
ChrX:71715090 [GRCh37]
ChrX:Xq13.1		 pathogenic|likely pathogenic
NM_018486.3(HDAC8):c.562G>A (p.Ala188Thr) single nucleotide variant Intellectual disability [RCV000851491]|not provided [RCV001269655] ChrX:72490995 [GRCh38]
ChrX:71710845 [GRCh37]
ChrX:Xq13.1		 pathogenic|likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28		 uncertain significance
NM_018486.3(HDAC8):c.769C>T (p.Pro257Ser) single nucleotide variant Cornelia de Lange syndrome 5 [RCV000850493] ChrX:72464700 [GRCh38]
ChrX:71684550 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_018486.3(HDAC8):c.295+2T>G single nucleotide variant Cornelia de Lange syndrome 5 [RCV001046979] ChrX:72568752 [GRCh38]
ChrX:71788602 [GRCh37]
ChrX:Xq13.1		 pathogenic
NM_018486.3(HDAC8):c.22G>A (p.Ala8Thr) single nucleotide variant Cornelia de Lange syndrome 5 [RCV001198100]|not provided [RCV003438718] ChrX:72572740 [GRCh38]
ChrX:71792590 [GRCh37]
ChrX:Xq13.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_018486.3(HDAC8):c.165-11G>A single nucleotide variant Cornelia de Lange syndrome 5 [RCV003104876] ChrX:72568895 [GRCh38]
ChrX:71788745 [GRCh37]
ChrX:Xq13.1		 likely benign
NC_000023.11:g.72573403_72573406dup duplication not provided [RCV001577888] ChrX:72573383..72573384 [GRCh38]
ChrX:71793233..71793234 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.238C>T (p.Gln80Ter) single nucleotide variant not provided [RCV001596894] ChrX:72568811 [GRCh38]
ChrX:71788661 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
NM_018486.3(HDAC8):c.438-329C>A single nucleotide variant not provided [RCV001621367] ChrX:72495597 [GRCh38]
ChrX:71715447 [GRCh37]
ChrX:Xq13.1		 benign
NC_000023.11:g.72573244dup duplication not provided [RCV001611193] ChrX:72573224..72573225 [GRCh38]
ChrX:71793074..71793075 [GRCh37]
ChrX:Xq13.1		 benign
NC_000023.11:g.72573406dup duplication not provided [RCV001611276] ChrX:72573383..72573384 [GRCh38]
ChrX:71793233..71793234 [GRCh37]
ChrX:Xq13.1		 benign
NM_018486.3(HDAC8):c.8A>C (p.Glu3Ala) single nucleotide variant not provided [RCV001557549] ChrX:72572754 [GRCh38]
ChrX:71792604 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.206C>A (p.Thr69Asn) single nucleotide variant Cornelia de Lange syndrome 5 [RCV001523751]|Inborn genetic diseases [RCV002416201] ChrX:72568843 [GRCh38]
ChrX:71788693 [GRCh37]
ChrX:Xq13.1		 benign|likely benign
NM_018486.3(HDAC8):c.169G>A (p.Val57Ile) single nucleotide variant Cornelia de Lange syndrome 5 [RCV002539201] ChrX:72568880 [GRCh38]
ChrX:71788730 [GRCh37]
ChrX:Xq13.1		 benign
NM_018486.3(HDAC8):c.182T>G (p.Val61Gly) single nucleotide variant Cornelia de Lange syndrome 5 [RCV001199225] ChrX:72568867 [GRCh38]
ChrX:71788717 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.799G>A (p.Asp267Asn) single nucleotide variant Cornelia de Lange syndrome 5 [RCV001089516] ChrX:72464670 [GRCh38]
ChrX:71684520 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
GRCh37/hg19 Xq13.1(chrX:71401787-71617388)x2 copy number gain not provided [RCV001249396] ChrX:71401787..71617388 [GRCh37]
ChrX:Xq13.1		 not provided
GRCh37/hg19 Xq13.1(chrX:71788603-71792725)x4 copy number gain not provided [RCV001092284] ChrX:71788603..71792725 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.112-18_112-17del deletion not provided [RCV001559968] ChrX:72572126..72572127 [GRCh38]
ChrX:71791976..71791977 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.165-151G>A single nucleotide variant not provided [RCV001530557] ChrX:72569035 [GRCh38]
ChrX:71788885 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.756C>T (p.Tyr252=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV002568899]|not provided [RCV001531789] ChrX:72464713 [GRCh38]
ChrX:71684563 [GRCh37]
ChrX:Xq13.1		 likely benign
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_018486.3(HDAC8):c.164+186G>C single nucleotide variant not provided [RCV001592499] ChrX:72571871 [GRCh38]
ChrX:71791721 [GRCh37]
ChrX:Xq13.1		 likely benign
NC_000023.11:g.72573404_72573406dup duplication not provided [RCV001621361] ChrX:72573383..72573384 [GRCh38]
ChrX:71793233..71793234 [GRCh37]
ChrX:Xq13.1		 benign
NM_018486.3(HDAC8):c.720T>G (p.Tyr240Ter) single nucleotide variant Cornelia de Lange syndrome 5 [RCV001193351] ChrX:72488950 [GRCh38]
ChrX:71708800 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
GRCh37/hg19 Xq13.1-13.2(chrX:71781534-72024927)x2 copy number gain not provided [RCV001007311] ChrX:71781534..72024927 [GRCh37]
ChrX:Xq13.1-13.2		 uncertain significance
NM_018486.3(HDAC8):c.433A>G (p.Lys145Glu) single nucleotide variant not specified [RCV001174817] ChrX:72567893 [GRCh38]
ChrX:71787743 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.112-29dup duplication Cornelia de Lange syndrome 5 [RCV002071950]|not provided [RCV001540393] ChrX:72572125..72572126 [GRCh38]
ChrX:71791975..71791976 [GRCh37]
ChrX:Xq13.1		 benign
NM_018486.3(HDAC8):c.112-17del deletion Cornelia de Lange syndrome 5 [RCV003653486]|not provided [RCV001671733] ChrX:72572126 [GRCh38]
ChrX:71791976 [GRCh37]
ChrX:Xq13.1		 benign
NM_018486.3(HDAC8):c.302A>G (p.Asp101Gly) single nucleotide variant Cornelia de Lange syndrome 5 [RCV001252510] ChrX:72568024 [GRCh38]
ChrX:71787874 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
NM_018486.3(HDAC8):c.352_358del (p.Ala118fs) deletion Intellectual disability [RCV001260722] ChrX:72567968..72567974 [GRCh38]
ChrX:71787818..71787824 [GRCh37]
ChrX:Xq13.1		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
NM_018486.3(HDAC8):c.196G>A (p.Glu66Lys) single nucleotide variant Inborn genetic diseases [RCV001267200] ChrX:72568853 [GRCh38]
ChrX:71788703 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.122T>A (p.Val41Glu) single nucleotide variant Inborn genetic diseases [RCV001267239] ChrX:72572099 [GRCh38]
ChrX:71791949 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.463C>T (p.Leu155Phe) single nucleotide variant Intellectual disability [RCV001260721] ChrX:72495243 [GRCh38]
ChrX:71715093 [GRCh37]
ChrX:Xq13.1		 uncertain significance
GRCh37/hg19 Xq13.1(chrX:71788603-71792725)x2 copy number gain not provided [RCV001531178] ChrX:71788603..71792725 [GRCh37]
ChrX:Xq13.1		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number gain 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_018486.3(HDAC8):c.551del (p.Gly184fs) deletion Cornelia de Lange syndrome 5 [RCV001808034] ChrX:72491006 [GRCh38]
ChrX:71710856 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
NC_000023.11:g.72573405_72573406dup duplication not provided [RCV001642191] ChrX:72573383..72573384 [GRCh38]
ChrX:71793233..71793234 [GRCh37]
ChrX:Xq13.1		 benign
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
NM_018486.3(HDAC8):c.356C>G (p.Thr119Arg) single nucleotide variant Cornelia de Lange syndrome 5 [RCV001268970] ChrX:72567970 [GRCh38]
ChrX:71787820 [GRCh37]
ChrX:Xq13.1		 pathogenic
NM_018486.3(HDAC8):c.415G>A (p.Gly139Arg) single nucleotide variant Neurodevelopmental disorder [RCV001374901] ChrX:72567911 [GRCh38]
ChrX:71787761 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
NM_018486.3(HDAC8):c.164+2dup duplication Cornelia de Lange syndrome 5 [RCV001385501] ChrX:72572054..72572055 [GRCh38]
ChrX:71791904..71791905 [GRCh37]
ChrX:Xq13.1		 pathogenic
NM_018486.3(HDAC8):c.1006-70T>C single nucleotide variant not provided [RCV001583691] ChrX:72351908 [GRCh38]
ChrX:71571758 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.1112-42A>G single nucleotide variant not provided [RCV001686249] ChrX:72330118 [GRCh38]
ChrX:71549968 [GRCh37]
ChrX:Xq13.1		 benign
NM_018486.3(HDAC8):c.372A>G (p.Gln124=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV001509944] ChrX:72567954 [GRCh38]
ChrX:71787804 [GRCh37]
ChrX:Xq13.1		 benign
NM_018486.3(HDAC8):c.213C>T (p.His71=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV001491181] ChrX:72568836 [GRCh38]
ChrX:71788686 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.561C>T (p.Asp187=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV001497144] ChrX:72490996 [GRCh38]
ChrX:71710846 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.522C>G (p.Tyr174Ter) single nucleotide variant Cornelia de Lange syndrome 5 [RCV001389995] ChrX:72495184 [GRCh38]
ChrX:71715034 [GRCh37]
ChrX:Xq13.1		 pathogenic
NM_018486.3(HDAC8):c.1111+17del deletion Cornelia de Lange syndrome 5 [RCV003108868] ChrX:72351716 [GRCh38]
ChrX:71571566 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.500G>C (p.Arg167Pro) single nucleotide variant not provided [RCV001763294] ChrX:72495206 [GRCh38]
ChrX:71715056 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.75_82del (p.Val25_Ser26insTer) deletion Cornelia de Lange syndrome 5 [RCV001783417] ChrX:72572680..72572687 [GRCh38]
ChrX:71792530..71792537 [GRCh37]
ChrX:Xq13.1		 pathogenic
NM_018486.3(HDAC8):c.134T>C (p.Ile45Thr) single nucleotide variant Cornelia de Lange syndrome 5 [RCV001779391] ChrX:72572087 [GRCh38]
ChrX:71791937 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.262G>A (p.Asp88Asn) single nucleotide variant not provided [RCV001767050] ChrX:72568787 [GRCh38]
ChrX:71788637 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.57C>T (p.Ile19=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV002073976]|Inborn genetic diseases [RCV002359229]|not provided [RCV001733145] ChrX:72572705 [GRCh38]
ChrX:71792555 [GRCh37]
ChrX:Xq13.1		 benign|likely benign
NM_018486.3(HDAC8):c.471T>G (p.Asp157Glu) single nucleotide variant Cornelia de Lange syndrome 5 [RCV001788538] ChrX:72495235 [GRCh38]
ChrX:71715085 [GRCh37]
ChrX:Xq13.1		 pathogenic
NM_018486.3(HDAC8):c.554T>C (p.Val185Ala) single nucleotide variant not provided [RCV001763886] ChrX:72491003 [GRCh38]
ChrX:71710853 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.830T>G (p.Phe277Cys) single nucleotide variant not provided [RCV001769204] ChrX:72464639 [GRCh38]
ChrX:71684489 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.835A>G (p.Met279Val) single nucleotide variant Cornelia de Lange syndrome 5 [RCV002540518]|not provided [RCV001771085] ChrX:72464634 [GRCh38]
ChrX:71684484 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.440A>G (p.Asp147Gly) single nucleotide variant not provided [RCV001786675] ChrX:72495266 [GRCh38]
ChrX:71715116 [GRCh37]
ChrX:Xq13.1		 uncertain significance
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) copy number loss Turner syndrome [RCV002280672] ChrX:62685885..155233731 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xq13.1(chrX:71788603-71792725)x4 copy number gain not provided [RCV001816565] ChrX:71788603..71792725 [GRCh37]
ChrX:Xq13.1		 uncertain significance
GRCh37/hg19 Xq13.1(chrX:71788603-71792725)x3 copy number gain not provided [RCV001815993] ChrX:71788603..71792725 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.862C>T (p.Leu288Phe) single nucleotide variant not provided [RCV001817671] ChrX:72464607 [GRCh38]
ChrX:71684457 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
NM_018486.3(HDAC8):c.881G>A (p.Trp294Ter) single nucleotide variant Cornelia de Lange syndrome 5 [RCV001808014] ChrX:72464588 [GRCh38]
ChrX:71684438 [GRCh37]
ChrX:Xq13.1		 pathogenic
NM_018486.3(HDAC8):c.508G>A (p.Glu170Lys) single nucleotide variant Cornelia de Lange syndrome 5 [RCV001809224] ChrX:72495198 [GRCh38]
ChrX:71715048 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.738-9969T>C single nucleotide variant Cornelia de Lange syndrome 5 [RCV001807875] ChrX:72474700 [GRCh38]
ChrX:71694550 [GRCh37]
ChrX:Xq13.1		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.1-13.2(chrX:71566947-72016381) copy number gain not specified [RCV002053145] ChrX:71566947..72016381 [GRCh37]
ChrX:Xq13.1-13.2		 uncertain significance
NM_018486.3(HDAC8):c.914G>A (p.Gly305Asp) single nucleotide variant Cornelia de Lange syndrome 5 [RCV001870742] ChrX:72462095 [GRCh38]
ChrX:71681945 [GRCh37]
ChrX:Xq13.1		 uncertain significance
GRCh37/hg19 Xq13.1-13.2(chrX:71591239-71845812) copy number gain not specified [RCV002053146] ChrX:71591239..71845812 [GRCh37]
ChrX:Xq13.1-13.2		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq11.1-21.1(chrX:61974855-79123671) copy number gain not specified [RCV002053136] ChrX:61974855..79123671 [GRCh37]
ChrX:Xq11.1-21.1		 pathogenic
GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79123671) copy number gain not specified [RCV002053135] ChrX:61877278..79123671 [GRCh37]
ChrX:Xq11.1-21.1		 pathogenic
NM_018486.3(HDAC8):c.1005+2T>C single nucleotide variant Cornelia de Lange syndrome 5 [RCV002038444] ChrX:72462002 [GRCh38]
ChrX:71681852 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
NM_018486.3(HDAC8):c.29G>A (p.Ser10Asn) single nucleotide variant Cornelia de Lange syndrome 5 [RCV001931241] ChrX:72572733 [GRCh38]
ChrX:71792583 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.68A>C (p.Glu23Ala) single nucleotide variant Cornelia de Lange syndrome 5 [RCV001997853] ChrX:72572694 [GRCh38]
ChrX:71792544 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.683A>T (p.Asn228Ile) single nucleotide variant Cornelia de Lange syndrome 5 [RCV001995257] ChrX:72488987 [GRCh38]
ChrX:71708837 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.1052G>C (p.Ser351Thr) single nucleotide variant Cornelia de Lange syndrome 5 [RCV002026699] ChrX:72351792 [GRCh38]
ChrX:71571642 [GRCh37]
ChrX:Xq13.1		 likely benign|uncertain significance
NM_018486.3(HDAC8):c.164+4del deletion Cornelia de Lange syndrome 5 [RCV001866765] ChrX:72572053 [GRCh38]
ChrX:71791903 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.956C>T (p.Thr319Ile) single nucleotide variant Cornelia de Lange syndrome 5 [RCV001938407] ChrX:72462053 [GRCh38]
ChrX:71681903 [GRCh37]
ChrX:Xq13.1		 pathogenic|uncertain significance
NM_018486.3(HDAC8):c.104C>T (p.Pro35Leu) single nucleotide variant Cornelia de Lange syndrome 5 [RCV002019653] ChrX:72572658 [GRCh38]
ChrX:71792508 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.738-8598T>C single nucleotide variant not provided [RCV002223378] ChrX:72473329 [GRCh38]
ChrX:71693179 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.318A>G (p.Glu106=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV002209966] ChrX:72568008 [GRCh38]
ChrX:71787858 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.384C>T (p.Asp128=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV002145764]|Inborn genetic diseases [RCV002352913] ChrX:72567942 [GRCh38]
ChrX:71787792 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.628+20G>A single nucleotide variant Cornelia de Lange syndrome 5 [RCV002169220] ChrX:72490909 [GRCh38]
ChrX:71710759 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.438-17A>G single nucleotide variant Cornelia de Lange syndrome 5 [RCV002166257] ChrX:72495285 [GRCh38]
ChrX:71715135 [GRCh37]
ChrX:Xq13.1		 benign
NM_018486.3(HDAC8):c.342T>C (p.Ala114=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV002080820]|not provided [RCV003438935] ChrX:72567984 [GRCh38]
ChrX:71787834 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.558A>G (p.Glu186=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV002112402] ChrX:72490999 [GRCh38]
ChrX:71710849 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.910+17G>T single nucleotide variant Cornelia de Lange syndrome 5 [RCV002084886] ChrX:72464542 [GRCh38]
ChrX:71684392 [GRCh37]
ChrX:Xq13.1		 benign
NM_018486.3(HDAC8):c.984C>T (p.Ser328=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV002151826] ChrX:72462025 [GRCh38]
ChrX:71681875 [GRCh37]
ChrX:Xq13.1		 benign
NM_018486.3(HDAC8):c.1047G>A (p.Thr349=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV002153291]|Inborn genetic diseases [RCV002400361] ChrX:72351797 [GRCh38]
ChrX:71571647 [GRCh37]
ChrX:Xq13.1		 benign|likely benign
NM_018486.3(HDAC8):c.111+20A>C single nucleotide variant Cornelia de Lange syndrome 5 [RCV002128681] ChrX:72572631 [GRCh38]
ChrX:71792481 [GRCh37]
ChrX:Xq13.1		 benign
NM_018486.3(HDAC8):c.910+20A>G single nucleotide variant Cornelia de Lange syndrome 5 [RCV002081170] ChrX:72464539 [GRCh38]
ChrX:71684389 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.1082G>A (p.Arg361Gln) single nucleotide variant Cornelia de Lange syndrome 5 [RCV002179245] ChrX:72351762 [GRCh38]
ChrX:71571612 [GRCh37]
ChrX:Xq13.1		 benign
NM_018486.3(HDAC8):c.1111+16C>T single nucleotide variant Cornelia de Lange syndrome 5 [RCV002121613] ChrX:72351717 [GRCh38]
ChrX:71571567 [GRCh37]
ChrX:Xq13.1		 benign
NM_018486.3(HDAC8):c.502A>G (p.Lys168Glu) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003093857]|not provided [RCV002221756]   uncertain significance
NM_018486.3(HDAC8):c.738-4A>G single nucleotide variant Cornelia de Lange syndrome 5 [RCV002200885] ChrX:72464735 [GRCh38]
ChrX:71684585 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.111+7G>A single nucleotide variant Cornelia de Lange syndrome 5 [RCV002201852]|HDAC8-related condition [RCV003973334] ChrX:72572644 [GRCh38]
ChrX:71792494 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.330C>T (p.Asp110=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV002160177] ChrX:72567996 [GRCh38]
ChrX:71787846 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.111+14G>C single nucleotide variant Cornelia de Lange syndrome 5 [RCV002100472] ChrX:72572637 [GRCh38]
ChrX:71792487 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.834C>T (p.Asn278=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV002162529] ChrX:72464635 [GRCh38]
ChrX:71684485 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.164+19A>T single nucleotide variant Cornelia de Lange syndrome 5 [RCV002119637] ChrX:72572038 [GRCh38]
ChrX:71791888 [GRCh37]
ChrX:Xq13.1		 benign
NM_018486.3(HDAC8):c.357G>A (p.Thr119=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV002135800] ChrX:72567969 [GRCh38]
ChrX:71787819 [GRCh37]
ChrX:Xq13.1		 benign
NM_018486.3(HDAC8):c.951C>T (p.Tyr317=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV002120354] ChrX:72462058 [GRCh38]
ChrX:71681908 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.629-14C>T single nucleotide variant Cornelia de Lange syndrome 5 [RCV002183543] ChrX:72489055 [GRCh38]
ChrX:71708905 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.295+13C>T single nucleotide variant Cornelia de Lange syndrome 5 [RCV002140297] ChrX:72568741 [GRCh38]
ChrX:71788591 [GRCh37]
ChrX:Xq13.1		 benign
NM_018486.3(HDAC8):c.135T>C (p.Ile45=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV002199327] ChrX:72572086 [GRCh38]
ChrX:71791936 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.957C>T (p.Thr319=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV002119225]|Inborn genetic diseases [RCV002382415] ChrX:72462052 [GRCh38]
ChrX:71681902 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.1111+9C>T single nucleotide variant Cornelia de Lange syndrome 5 [RCV002102296] ChrX:72351724 [GRCh38]
ChrX:71571574 [GRCh37]
ChrX:Xq13.1		 benign
NM_018486.3(HDAC8):c.738-1619G>A single nucleotide variant Cornelia de Lange syndrome 5 [RCV002227591] ChrX:72466350 [GRCh38]
ChrX:71686200 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.110G>A (p.Arg37Gln) single nucleotide variant not provided [RCV002222790] ChrX:72572652 [GRCh38]
ChrX:71792502 [GRCh37]
ChrX:Xq13.1		 pathogenic
NC_000023.10:g.(?_71681834)_(71681968_?)del deletion Cornelia de Lange syndrome 5 [RCV003119919] ChrX:71681834..71681968 [GRCh37]
ChrX:Xq13.1		 pathogenic
NM_018486.3(HDAC8):c.437+9del deletion not specified [RCV003151532] ChrX:72567880 [GRCh38]
ChrX:71787730 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NC_000023.11:g.72456277_72483823del deletion Cornelia de Lange syndrome 5 [RCV003318490] ChrX:72456277..72483823 [GRCh38]
ChrX:Xq13.1		 likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_018486.3(HDAC8):c.4G>T (p.Glu2Ter) single nucleotide variant not provided [RCV003233353] ChrX:72572758 [GRCh38]
ChrX:71792608 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.581_582del (p.Lys194fs) deletion not provided [RCV002276228] ChrX:72490975..72490976 [GRCh38]
ChrX:71710825..71710826 [GRCh37]
ChrX:Xq13.1		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_018486.3(HDAC8):c.976_996del (p.Thr326_Pro332del) deletion Cornelia de Lange syndrome 5 [RCV002286440] ChrX:72462013..72462033 [GRCh38]
ChrX:71681863..71681883 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
NM_018486.3(HDAC8):c.602A>T (p.His201Leu) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003148118] ChrX:72490955 [GRCh38]
ChrX:71710805 [GRCh37]
ChrX:Xq13.1		 uncertain significance
GRCh37/hg19 Xq13.1-13.2(chrX:71605095-71917944)x3 copy number gain not provided [RCV002473821] ChrX:71605095..71917944 [GRCh37]
ChrX:Xq13.1-13.2		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_018486.3(HDAC8):c.467A>G (p.Asn156Ser) single nucleotide variant Inborn genetic diseases [RCV002330528] ChrX:72495239 [GRCh38]
ChrX:71715089 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
NM_018486.3(HDAC8):c.121G>A (p.Val41Met) single nucleotide variant not provided [RCV002308752] ChrX:72572100 [GRCh38]
ChrX:71791950 [GRCh37]
ChrX:Xq13.1		 likely pathogenic|uncertain significance
NM_018486.3(HDAC8):c.976A>G (p.Thr326Ala) single nucleotide variant Cornelia de Lange syndrome 5 [RCV002302239] ChrX:72462033 [GRCh38]
ChrX:71681883 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.473C>T (p.Ala158Val) single nucleotide variant not provided [RCV002305915] ChrX:72495233 [GRCh38]
ChrX:71715083 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.717A>T (p.Lys239Asn) single nucleotide variant Cornelia de Lange syndrome 5 [RCV002302244] ChrX:72488953 [GRCh38]
ChrX:71708803 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.440A>T (p.Asp147Val) single nucleotide variant Cornelia de Lange syndrome 5 [RCV002298074] ChrX:72495266 [GRCh38]
ChrX:71715116 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.383A>T (p.Asp128Val) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003073760] ChrX:72567943 [GRCh38]
ChrX:71787793 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.748del (p.Glu250fs) deletion Cornelia de Lange syndrome 5 [RCV002881076] ChrX:72464721 [GRCh38]
ChrX:71684571 [GRCh37]
ChrX:Xq13.1		 pathogenic
NM_018486.3(HDAC8):c.1058G>A (p.Arg353Gln) single nucleotide variant Cornelia de Lange syndrome 5 [RCV002862534] ChrX:72351786 [GRCh38]
ChrX:71571636 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.381T>A (p.Ile127=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003016973] ChrX:72567945 [GRCh38]
ChrX:71787795 [GRCh37]
ChrX:Xq13.1		 likely benign
GRCh37/hg19 Xq13.1-13.2(chrX:71605731-71917944)x3 copy number gain not provided [RCV002475799] ChrX:71605731..71917944 [GRCh37]
ChrX:Xq13.1-13.2		 uncertain significance
NM_018486.3(HDAC8):c.1126G>A (p.Val376Met) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003074111]|Inborn genetic diseases [RCV003367965] ChrX:72330062 [GRCh38]
ChrX:71549912 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.310G>A (p.Ala104Thr) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003011836] ChrX:72568016 [GRCh38]
ChrX:71787866 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.66C>G (p.Pro22=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV002590725] ChrX:72572696 [GRCh38]
ChrX:71792546 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.550+9T>G single nucleotide variant Cornelia de Lange syndrome 5 [RCV002825480] ChrX:72495147 [GRCh38]
ChrX:71714997 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.437+16_437+19del deletion Cornelia de Lange syndrome 5 [RCV002998746] ChrX:72567870..72567873 [GRCh38]
ChrX:71787720..71787723 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.296-6C>T single nucleotide variant Cornelia de Lange syndrome 5 [RCV002780611] ChrX:72568036 [GRCh38]
ChrX:71787886 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.737+6G>A single nucleotide variant Cornelia de Lange syndrome 5 [RCV003079328] ChrX:72488927 [GRCh38]
ChrX:71708777 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.601C>T (p.His201Tyr) single nucleotide variant not provided [RCV003037103] ChrX:72490956 [GRCh38]
ChrX:71710806 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
NM_018486.3(HDAC8):c.9_17dup (p.Pro7_Ala8insGluGluPro) duplication Cornelia de Lange syndrome 5 [RCV002909628] ChrX:72572744..72572745 [GRCh38]
ChrX:71792594..71792595 [GRCh37]
ChrX:Xq13.1		 benign
NM_018486.3(HDAC8):c.640G>A (p.Val214Met) single nucleotide variant Cornelia de Lange syndrome 5 [RCV002912434] ChrX:72489030 [GRCh38]
ChrX:71708880 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.1105A>G (p.Ile369Val) single nucleotide variant Cornelia de Lange syndrome 5 [RCV002591358]|Inborn genetic diseases [RCV002574407] ChrX:72351739 [GRCh38]
ChrX:71571589 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.822G>A (p.Met274Ile) single nucleotide variant Cornelia de Lange syndrome 5 [RCV002979552] ChrX:72464647 [GRCh38]
ChrX:71684497 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.166A>G (p.Ile56Val) single nucleotide variant Cornelia de Lange syndrome 5 [RCV002912560] ChrX:72568883 [GRCh38]
ChrX:71788733 [GRCh37]
ChrX:Xq13.1		 benign
NM_018486.3(HDAC8):c.225T>C (p.Tyr75=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV002999757] ChrX:72568824 [GRCh38]
ChrX:71788674 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.1112-10_1112-9del deletion Cornelia de Lange syndrome 5 [RCV002889216] ChrX:72330085..72330086 [GRCh38]
ChrX:71549935..71549936 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.477C>T (p.Val159=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV002866233] ChrX:72495229 [GRCh38]
ChrX:71715079 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.629-11C>G single nucleotide variant Cornelia de Lange syndrome 5 [RCV003084640] ChrX:72489052 [GRCh38]
ChrX:71708902 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.767A>T (p.Asn256Ile) single nucleotide variant Cornelia de Lange syndrome 5 [RCV002852787] ChrX:72464702 [GRCh38]
ChrX:71684552 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.11C>T (p.Pro4Leu) single nucleotide variant Cornelia de Lange syndrome 5 [RCV002572812] ChrX:72572751 [GRCh38]
ChrX:71792601 [GRCh37]
ChrX:Xq13.1		 benign
NM_018486.3(HDAC8):c.112-14G>A single nucleotide variant Cornelia de Lange syndrome 5 [RCV002624741] ChrX:72572123 [GRCh38]
ChrX:71791973 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.1005+5G>A single nucleotide variant Cornelia de Lange syndrome 5 [RCV002871962] ChrX:72461999 [GRCh38]
ChrX:71681849 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.491G>T (p.Arg164Leu) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003534975]|Inborn genetic diseases [RCV002955778] ChrX:72495215 [GRCh38]
ChrX:71715065 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.737+16_737+28del deletion Cornelia de Lange syndrome 5 [RCV002790376] ChrX:72488905..72488917 [GRCh38]
ChrX:71708755..71708767 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.437+13C>G single nucleotide variant Cornelia de Lange syndrome 5 [RCV002872224] ChrX:72567876 [GRCh38]
ChrX:71787726 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.603C>T (p.His201=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003043936] ChrX:72490954 [GRCh38]
ChrX:71710804 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.1112-11C>G single nucleotide variant Cornelia de Lange syndrome 5 [RCV002602011] ChrX:72330087 [GRCh38]
ChrX:71549937 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.510G>A (p.Glu170=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003046093] ChrX:72495196 [GRCh38]
ChrX:71715046 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.550+7C>T single nucleotide variant Cornelia de Lange syndrome 5 [RCV002834615] ChrX:72495149 [GRCh38]
ChrX:71714999 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.1104C>T (p.Tyr368=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV002627542] ChrX:72351740 [GRCh38]
ChrX:71571590 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.615A>G (p.Pro205=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003086363] ChrX:72490942 [GRCh38]
ChrX:71710792 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.112-11G>T single nucleotide variant Cornelia de Lange syndrome 5 [RCV003043766] ChrX:72572120 [GRCh38]
ChrX:71791970 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.500G>A (p.Arg167Gln) single nucleotide variant Cornelia de Lange syndrome 5 [RCV002677006] ChrX:72495206 [GRCh38]
ChrX:71715056 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.747G>A (p.Lys249=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV002605222] ChrX:72464722 [GRCh38]
ChrX:71684572 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.938G>A (p.Arg313Gln) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003135539] ChrX:72462071 [GRCh38]
ChrX:71681921 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.75_82dup (p.Cys28fs) duplication Cornelia de Lange syndrome 5 [RCV003155899] ChrX:72572679..72572680 [GRCh38]
ChrX:71792529..71792530 [GRCh37]
ChrX:Xq13.1		 pathogenic
NM_018486.3(HDAC8):c.211C>T (p.His71Tyr) single nucleotide variant not provided [RCV003225543] ChrX:72568838 [GRCh38]
ChrX:71788688 [GRCh37]
ChrX:Xq13.1		 pathogenic
NM_018486.3(HDAC8):c.1011dup (p.Thr338fs) duplication Cornelia de Lange syndrome 5 [RCV003226124] ChrX:72351832..72351833 [GRCh38]
ChrX:71571682..71571683 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
NM_018486.3(HDAC8):c.917A>G (p.Tyr306Cys) single nucleotide variant not provided [RCV003325387] ChrX:72462092 [GRCh38]
ChrX:71681942 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
NM_018486.3(HDAC8):c.283G>C (p.Glu95Gln) single nucleotide variant not provided [RCV003328746] ChrX:72568766 [GRCh38]
ChrX:71788616 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.1010dup (p.Thr338fs) duplication Cornelia de Lange syndrome 5 [RCV003487263] ChrX:72351833..72351834 [GRCh38]
ChrX:71571683..71571684 [GRCh37]
ChrX:Xq13.1		 pathogenic
NM_018486.3(HDAC8):c.629-16C>T single nucleotide variant Cornelia de Lange syndrome 5 [RCV003875499] ChrX:72489057 [GRCh38]
ChrX:71708907 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.1112-599T>C single nucleotide variant not provided [RCV003439639] ChrX:72330675 [GRCh38]
ChrX:71550525 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.1112-626C>T single nucleotide variant not provided [RCV003439640] ChrX:72330702 [GRCh38]
ChrX:71550552 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.1111+131C>A single nucleotide variant not provided [RCV003439641] ChrX:72351602 [GRCh38]
ChrX:71571452 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.1111+128C>T single nucleotide variant not provided [RCV003439642] ChrX:72351605 [GRCh38]
ChrX:71571455 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.437+105G>T single nucleotide variant not provided [RCV003439643] ChrX:72567784 [GRCh38]
ChrX:71787634 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.961G>C (p.Val321Leu) single nucleotide variant not provided [RCV003443830] ChrX:72462048 [GRCh38]
ChrX:71681898 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.296-13T>G single nucleotide variant Cornelia de Lange syndrome 5 [RCV003412557] ChrX:72568043 [GRCh38]
ChrX:71787893 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.1112-5T>G single nucleotide variant Cornelia de Lange syndrome 5 [RCV003652947] ChrX:72330081 [GRCh38]
ChrX:71549931 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.1053C>T (p.Ser351=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003653894] ChrX:72351791 [GRCh38]
ChrX:71571641 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.112-18_112-17dup duplication Cornelia de Lange syndrome 5 [RCV003881639] ChrX:72572125..72572126 [GRCh38]
ChrX:71791975..71791976 [GRCh37]
ChrX:Xq13.1		 benign
NM_018486.3(HDAC8):c.164G>T (p.Arg55Met) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003883346] ChrX:72572057 [GRCh38]
ChrX:71791907 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
NM_018486.3(HDAC8):c.590C>A (p.Thr197Asn) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003653934] ChrX:72490967 [GRCh38]
ChrX:71710817 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.911-13T>C single nucleotide variant Cornelia de Lange syndrome 5 [RCV003652671] ChrX:72462111 [GRCh38]
ChrX:71681961 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.828C>T (p.Ser276=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003651056] ChrX:72464641 [GRCh38]
ChrX:71684491 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.111G>C (p.Arg37=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003652733] ChrX:72572651 [GRCh38]
ChrX:71792501 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.911-5G>C single nucleotide variant Cornelia de Lange syndrome 5 [RCV003651379] ChrX:72462103 [GRCh38]
ChrX:71681953 [GRCh37]
ChrX:Xq13.1		 benign
NM_018486.3(HDAC8):c.738-2A>G single nucleotide variant Cornelia de Lange syndrome 5 [RCV003650913] ChrX:72464733 [GRCh38]
ChrX:71684583 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
NM_018486.3(HDAC8):c.925G>T (p.Ala309Ser) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003649652] ChrX:72462084 [GRCh38]
ChrX:71681934 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.1117C>A (p.Leu373Met) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003649804] ChrX:72330071 [GRCh38]
ChrX:71549921 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.12G>A (p.Pro4=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003652368] ChrX:72572750 [GRCh38]
ChrX:71792600 [GRCh37]
ChrX:Xq13.1		 benign
NM_018486.3(HDAC8):c.164+9T>C single nucleotide variant Cornelia de Lange syndrome 5 [RCV003652409] ChrX:72572048 [GRCh38]
ChrX:71791898 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.487T>C (p.Leu163=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003650233] ChrX:72495219 [GRCh38]
ChrX:71715069 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.525G>A (p.Val175=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003651271] ChrX:72495181 [GRCh38]
ChrX:71715031 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.831T>A (p.Phe277Leu) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003651280] ChrX:72464638 [GRCh38]
ChrX:71684488 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.111+10G>A single nucleotide variant Cornelia de Lange syndrome 5 [RCV003651284] ChrX:72572641 [GRCh38]
ChrX:71792491 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.731G>A (p.Cys244Tyr) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003650223] ChrX:72488939 [GRCh38]
ChrX:71708789 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.889G>C (p.Ala297Pro) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003650288] ChrX:72464580 [GRCh38]
ChrX:71684430 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.587T>C (p.Met196Thr) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003649816] ChrX:72490970 [GRCh38]
ChrX:71710820 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.628+7G>A single nucleotide variant Cornelia de Lange syndrome 5 [RCV003650345] ChrX:72490922 [GRCh38]
ChrX:71710772 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.31G>C (p.Gly11Arg) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003829021] ChrX:72572731 [GRCh38]
ChrX:71792581 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.349G>A (p.Gly117Arg) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003650947] ChrX:72567977 [GRCh38]
ChrX:71787827 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.629-18T>C single nucleotide variant Cornelia de Lange syndrome 5 [RCV003649464] ChrX:72489059 [GRCh38]
ChrX:71708909 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.1085T>C (p.Ile362Thr) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003652369] ChrX:72351759 [GRCh38]
ChrX:71571609 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.111+6G>A single nucleotide variant Cornelia de Lange syndrome 5 [RCV003649520] ChrX:72572645 [GRCh38]
ChrX:71792495 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.20C>A (p.Pro7Gln) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003651502] ChrX:72572742 [GRCh38]
ChrX:71792592 [GRCh37]
ChrX:Xq13.1		 benign
NM_018486.3(HDAC8):c.66C>T (p.Pro22=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003653078] ChrX:72572696 [GRCh38]
ChrX:71792546 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.306C>T (p.Cys102=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003652464] ChrX:72568020 [GRCh38]
ChrX:71787870 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.1111G>A (p.Gly371Arg) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003649581] ChrX:72351733 [GRCh38]
ChrX:71571583 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.927C>T (p.Ala309=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003536816] ChrX:72462082 [GRCh38]
ChrX:71681932 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.1068C>A (p.Arg356=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003535389] ChrX:72351776 [GRCh38]
ChrX:71571626 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.23C>A (p.Ala8Glu) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003536223] ChrX:72572739 [GRCh38]
ChrX:71792589 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.1006-4A>G single nucleotide variant Cornelia de Lange syndrome 5 [RCV003537947] ChrX:72351842 [GRCh38]
ChrX:71571692 [GRCh37]
ChrX:Xq13.1		 benign
NM_018486.3(HDAC8):c.666A>G (p.Gly222=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003535125] ChrX:72489004 [GRCh38]
ChrX:71708854 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.474T>C (p.Ala158=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003538941] ChrX:72495232 [GRCh38]
ChrX:71715082 [GRCh37]
ChrX:Xq13.1		 benign
NM_018486.3(HDAC8):c.930C>T (p.Asn310=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003537519] ChrX:72462079 [GRCh38]
ChrX:71681929 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.551-17G>A single nucleotide variant Cornelia de Lange syndrome 5 [RCV003537770] ChrX:72491023 [GRCh38]
ChrX:71710873 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.669G>T (p.Arg223=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003539133] ChrX:72489001 [GRCh38]
ChrX:71708851 [GRCh37]
ChrX:Xq13.1		 benign
NM_018486.3(HDAC8):c.738-17del deletion Cornelia de Lange syndrome 5 [RCV003535425] ChrX:72464748 [GRCh38]
ChrX:71684598 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.898A>C (p.Ile300Leu) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003537537] ChrX:72464571 [GRCh38]
ChrX:71684421 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.657A>C (p.Leu219=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003538323] ChrX:72489013 [GRCh38]
ChrX:71708863 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.43G>A (p.Val15Ile) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003538324] ChrX:72572719 [GRCh38]
ChrX:71792569 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.1066C>T (p.Arg356Cys) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003537786] ChrX:72351778 [GRCh38]
ChrX:71571628 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.291G>A (p.Gly97=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003537808] ChrX:72568758 [GRCh38]
ChrX:71788608 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_018486.3(HDAC8):c.296-13T>C single nucleotide variant Cornelia de Lange syndrome 5 [RCV003537991] ChrX:72568043 [GRCh38]
ChrX:71787893 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.111+20A>G single nucleotide variant Cornelia de Lange syndrome 5 [RCV003538102] ChrX:72572631 [GRCh38]
ChrX:71792481 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.894A>G (p.Thr298=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003535479] ChrX:72464575 [GRCh38]
ChrX:71684425 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.141A>T (p.Ala47=) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003852059] ChrX:72572080 [GRCh38]
ChrX:71791930 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_018486.3(HDAC8):c.1111+13C>T single nucleotide variant Cornelia de Lange syndrome 5 [RCV003842989] ChrX:72351720 [GRCh38]
ChrX:71571570 [GRCh37]
ChrX:Xq13.1		 likely benign
GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79122848) copy number gain not specified [RCV003986211] ChrX:61877278..79122848 [GRCh37]
ChrX:Xq11.1-21.1		 pathogenic
GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081) copy number gain not specified [RCV003986197] ChrX:68040342..100863081 [GRCh37]
ChrX:Xq13.1-22.1		 pathogenic
NM_018486.3(HDAC8):c.499C>T (p.Arg167Trp) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003865760] ChrX:72495207 [GRCh38]
ChrX:71715057 [GRCh37]
ChrX:Xq13.1		 likely benign
NC_000023.11:g.(?_66445907)_(78172208_?)dup duplication Xq13q21 duplication [RCV003885331] ChrX:66445907..78172208 [GRCh38]
ChrX:Xq12-21.1		 pathogenic
NM_018486.3(HDAC8):c.943T>A (p.Trp315Arg) single nucleotide variant Cornelia de Lange syndrome 5 [RCV003985197] ChrX:72462066 [GRCh38]
ChrX:71681916 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3 copy number gain not provided [RCV003885530] ChrX:67292994..155240074 [GRCh37]
ChrX:Xq12-28		 pathogenic
NM_018486.3(HDAC8):c.437+103G>C single nucleotide variant HDAC8-related condition [RCV003956817] ChrX:72567786 [GRCh38]
ChrX:71787636 [GRCh37]
ChrX:Xq13.1		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR449Ahsa-miR-449aMirtarbaseexternal_infoWestern blotNon-Functional MTI19252524
MIR93hsa-miR-93-5pOncomiRDBexternal_infoNANA22180714

Predicted Target Of
Summary Value
Count of predictions:5565
Count of miRNA genes:1448
Interacting mature miRNAs:1957
Transcripts:ENST00000373554, ENST00000373556, ENST00000373559, ENST00000373560, ENST00000373561, ENST00000373568, ENST00000373571, ENST00000373573, ENST00000373583, ENST00000373589, ENST00000412342, ENST00000415409, ENST00000421523, ENST00000429103, ENST00000436675, ENST00000439122, ENST00000444609, ENST00000470998, ENST00000478743, ENST00000486704
Prediction methods:Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
RH93559  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X71,549,455 - 71,549,613UniSTSGRCh37
Build 36X71,466,180 - 71,466,338RGDNCBI36
CeleraX71,892,673 - 71,892,831RGD
Cytogenetic MapXq13UniSTS
HuRefX65,303,818 - 65,303,976UniSTS
GeneMap99-GB4 RH MapX242.82UniSTS
DXS7027E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X71,549,407 - 71,549,560UniSTSGRCh37
Build 36X71,466,132 - 71,466,285RGDNCBI36
CeleraX71,892,625 - 71,892,778RGD
Cytogenetic MapXq13UniSTS
HuRefX65,303,770 - 65,303,923UniSTS
DXS1163  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X71,770,890 - 71,771,056UniSTSGRCh37
Build 36X71,687,615 - 71,687,781RGDNCBI36
CeleraX72,114,114 - 72,114,280RGD
Cytogenetic MapXq13UniSTS
HuRefX65,525,830 - 65,525,996UniSTS
DXS1377  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X71,755,655 - 71,755,733UniSTSGRCh37
Build 36X71,672,380 - 71,672,458RGDNCBI36
CeleraX72,098,879 - 72,098,957RGD
Cytogenetic MapXq13UniSTS
HuRefX65,510,595 - 65,510,673UniSTS
RH120411  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X71,614,064 - 71,614,388UniSTSGRCh37
Build 36X71,530,789 - 71,531,113RGDNCBI36
CeleraX71,957,283 - 71,957,607RGD
Cytogenetic MapXq13UniSTS
HuRefX65,368,720 - 65,369,044UniSTS
TNG Radiation Hybrid MapX415.0UniSTS
SGC34789  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X71,562,332 - 71,562,481UniSTSGRCh37
Build 36X71,479,057 - 71,479,206RGDNCBI36
CeleraX71,905,551 - 71,905,700RGD
Cytogenetic MapXq13UniSTS
HuRefX65,316,332 - 65,316,481UniSTS
GeneMap99-GB4 RH MapX239.44UniSTS
Whitehead-RH MapX185.2UniSTS
NCBI RH MapX407.2UniSTS
A009W47  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X71,562,236 - 71,562,394UniSTSGRCh37
Build 36X71,478,961 - 71,479,119RGDNCBI36
CeleraX71,905,455 - 71,905,613RGD
Cytogenetic MapXq13UniSTS
HuRefX65,316,236 - 65,316,394UniSTS
GeneMap99-GB4 RH MapX239.21UniSTS
NCBI RH MapX405.8UniSTS
G30088  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X71,693,319 - 71,693,420UniSTSGRCh37
Build 36X71,610,044 - 71,610,145RGDNCBI36
CeleraX72,036,543 - 72,036,644RGD
Cytogenetic MapXq13UniSTS
HuRefX65,448,166 - 65,448,267UniSTS
RH16247  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X71,562,238 - 71,562,372UniSTSGRCh37
Build 36X71,478,963 - 71,479,097RGDNCBI36
CeleraX71,905,457 - 71,905,591RGD
Cytogenetic MapXq13UniSTS
HuRefX65,316,238 - 65,316,372UniSTS
GeneMap99-GB4 RH MapX239.31UniSTS
L77829  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X71,625,533 - 71,625,602UniSTSGRCh37
Build 36X71,542,258 - 71,542,327RGDNCBI36
CeleraX71,968,752 - 71,968,821RGD
Cytogenetic MapXq13UniSTS
HuRefX65,380,190 - 65,380,259UniSTS
G32931  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X71,562,236 - 71,562,394UniSTSGRCh37
CeleraX71,905,455 - 71,905,613UniSTS
Cytogenetic MapXq13UniSTS
HuRefX65,316,236 - 65,316,394UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 118 5 276 36 195 38 160 37 241 65 253 303 9 3 1
Low 2321 2908 1450 588 1695 427 4196 2141 3493 354 1206 1310 166 1 1204 2785 5 2
Below cutoff 78 61 19 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_015851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001166418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001166419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001166420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001166422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001166448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001410725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001410727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001410728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001410729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001410730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_051952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_938402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF212246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF230097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF245664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI651236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI916593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ277724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK054936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY429539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF514915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP229332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ189619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ632790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX295542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC352390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000373554   ⟹   ENSP00000362655
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,567,582 - 72,572,853 (-)Ensembl
RefSeq Acc Id: ENST00000373556   ⟹   ENSP00000362657
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,567,582 - 72,572,856 (-)Ensembl
RefSeq Acc Id: ENST00000373559   ⟹   ENSP00000362660
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,474,535 - 72,572,812 (-)Ensembl
RefSeq Acc Id: ENST00000373560   ⟹   ENSP00000362661
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,474,407 - 72,572,830 (-)Ensembl
RefSeq Acc Id: ENST00000373568   ⟹   ENSP00000362669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,351,300 - 72,572,842 (-)Ensembl
RefSeq Acc Id: ENST00000373571   ⟹   ENSP00000362672
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,466,696 - 72,572,843 (-)Ensembl
RefSeq Acc Id: ENST00000373573   ⟹   ENSP00000362674
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,329,516 - 72,572,843 (-)Ensembl
RefSeq Acc Id: ENST00000373583   ⟹   ENSP00000362685
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,329,516 - 72,572,877 (-)Ensembl
RefSeq Acc Id: ENST00000373589   ⟹   ENSP00000362691
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,329,560 - 72,573,101 (-)Ensembl
RefSeq Acc Id: ENST00000412342   ⟹   ENSP00000400180
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,464,668 - 72,572,778 (-)Ensembl
RefSeq Acc Id: ENST00000415409   ⟹   ENSP00000396424
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,385,109 - 72,572,843 (-)Ensembl
RefSeq Acc Id: ENST00000421523   ⟹   ENSP00000398997
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,495,159 - 72,572,809 (-)Ensembl
RefSeq Acc Id: ENST00000436675   ⟹   ENSP00000416489
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,351,791 - 72,572,858 (-)Ensembl
RefSeq Acc Id: ENST00000439122   ⟹   ENSP00000414486
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,473,416 - 72,573,083 (-)Ensembl
RefSeq Acc Id: ENST00000444609
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,568,755 - 72,573,079 (-)Ensembl
RefSeq Acc Id: ENST00000470998   ⟹   ENSP00000497317
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,330,832 - 72,464,564 (-)Ensembl
RefSeq Acc Id: ENST00000478743
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,421,655 - 72,572,847 (-)Ensembl
RefSeq Acc Id: ENST00000486704
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,571,946 - 72,572,816 (-)Ensembl
RefSeq Acc Id: ENST00000647594   ⟹   ENSP00000496814
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,329,568 - 72,572,865 (-)Ensembl
RefSeq Acc Id: ENST00000647606   ⟹   ENSP00000497286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,351,792 - 72,568,791 (-)Ensembl
RefSeq Acc Id: ENST00000647641
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,333,656 - 72,572,848 (-)Ensembl
RefSeq Acc Id: ENST00000647654   ⟹   ENSP00000497568
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,329,559 - 72,572,843 (-)Ensembl
RefSeq Acc Id: ENST00000647718
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,460,155 - 72,572,816 (-)Ensembl
RefSeq Acc Id: ENST00000647859   ⟹   ENSP00000497530
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,329,568 - 72,572,843 (-)Ensembl
RefSeq Acc Id: ENST00000647886   ⟹   ENSP00000497188
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,329,557 - 72,572,859 (-)Ensembl
RefSeq Acc Id: ENST00000647974   ⟹   ENSP00000497324
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,473,441 - 72,572,095 (-)Ensembl
RefSeq Acc Id: ENST00000647980   ⟹   ENSP00000498002
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,329,568 - 72,572,847 (-)Ensembl
RefSeq Acc Id: ENST00000648036   ⟹   ENSP00000496994
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,473,431 - 72,572,810 (-)Ensembl
RefSeq Acc Id: ENST00000648101
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,495,194 - 72,572,627 (-)Ensembl
RefSeq Acc Id: ENST00000648139   ⟹   ENSP00000496818
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,351,379 - 72,572,816 (-)Ensembl
RefSeq Acc Id: ENST00000648158
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,473,417 - 72,475,729 (-)Ensembl
RefSeq Acc Id: ENST00000648276   ⟹   ENSP00000497619
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,329,920 - 72,464,712 (-)Ensembl
RefSeq Acc Id: ENST00000648285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,464,029 - 72,572,817 (-)Ensembl
RefSeq Acc Id: ENST00000648298   ⟹   ENSP00000496866
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,457,402 - 72,572,843 (-)Ensembl
RefSeq Acc Id: ENST00000648452   ⟹   ENSP00000497268
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,329,538 - 72,572,865 (-)Ensembl
RefSeq Acc Id: ENST00000648459   ⟹   ENSP00000498072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,329,559 - 72,568,022 (-)Ensembl
RefSeq Acc Id: ENST00000648504   ⟹   ENSP00000497668
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,329,559 - 72,572,698 (-)Ensembl
RefSeq Acc Id: ENST00000648577   ⟹   ENSP00000497552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,484,851 - 72,572,816 (-)Ensembl
RefSeq Acc Id: ENST00000648711   ⟹   ENSP00000498040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,351,622 - 72,572,659 (-)Ensembl
RefSeq Acc Id: ENST00000648731   ⟹   ENSP00000497907
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,329,578 - 72,572,681 (-)Ensembl
RefSeq Acc Id: ENST00000648834   ⟹   ENSP00000497764
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,351,421 - 72,572,818 (-)Ensembl
RefSeq Acc Id: ENST00000648850   ⟹   ENSP00000497384
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,329,519 - 72,494,380 (-)Ensembl
RefSeq Acc Id: ENST00000648855
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,329,557 - 72,572,685 (-)Ensembl
RefSeq Acc Id: ENST00000648870   ⟹   ENSP00000497599
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,457,406 - 72,572,856 (-)Ensembl
RefSeq Acc Id: ENST00000648939   ⟹   ENSP00000497442
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,329,559 - 72,572,787 (-)Ensembl
RefSeq Acc Id: ENST00000648962   ⟹   ENSP00000497516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,473,416 - 72,572,821 (-)Ensembl
RefSeq Acc Id: ENST00000649097   ⟹   ENSP00000497551
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,329,538 - 72,572,816 (-)Ensembl
RefSeq Acc Id: ENST00000649116   ⟹   ENSP00000497925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,457,416 - 72,572,843 (-)Ensembl
RefSeq Acc Id: ENST00000649181   ⟹   ENSP00000498150
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,329,618 - 72,572,781 (-)Ensembl
RefSeq Acc Id: ENST00000649242   ⟹   ENSP00000497943
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,460,259 - 72,572,816 (-)Ensembl
RefSeq Acc Id: ENST00000649274   ⟹   ENSP00000497032
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,329,725 - 72,572,704 (-)Ensembl
RefSeq Acc Id: ENST00000649518   ⟹   ENSP00000498169
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,460,342 - 72,572,866 (-)Ensembl
RefSeq Acc Id: ENST00000649543   ⟹   ENSP00000496826
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,351,144 - 72,572,816 (-)Ensembl
RefSeq Acc Id: ENST00000649752   ⟹   ENSP00000497267
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,457,621 - 72,572,843 (-)Ensembl
RefSeq Acc Id: ENST00000650076   ⟹   ENSP00000497022
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,329,574 - 72,495,179 (-)Ensembl
RefSeq Acc Id: ENST00000650126   ⟹   ENSP00000498144
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,473,431 - 72,572,847 (-)Ensembl
RefSeq Acc Id: ENST00000650471   ⟹   ENSP00000498027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,329,805 - 72,572,843 (-)Ensembl
RefSeq Acc Id: ENST00000650477
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,329,569 - 72,349,797 (-)Ensembl
RefSeq Acc Id: ENST00000650604   ⟹   ENSP00000497105
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,329,568 - 72,573,081 (-)Ensembl
RefSeq Acc Id: ENST00000650636   ⟹   ENSP00000497191
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,562,220 - 72,572,816 (-)Ensembl
RefSeq Acc Id: NM_001166418   ⟹   NP_001159890
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X72,329,516 - 72,572,843 (-)NCBI
GRCh37X71,549,366 - 71,792,953 (-)ENTREZGENE
HuRefX65,303,729 - 65,547,461 (-)ENTREZGENE
CHM1_1X71,442,370 - 71,685,931 (-)NCBI
T2T-CHM13v2.0X70,762,405 - 71,005,758 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001166419   ⟹   NP_001159891
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X72,473,416 - 72,572,843 (-)NCBI
GRCh37X71,549,366 - 71,792,953 (-)ENTREZGENE
HuRefX65,303,729 - 65,547,461 (-)ENTREZGENE
CHM1_1X71,586,254 - 71,685,931 (-)NCBI
T2T-CHM13v2.0X70,906,322 - 71,005,758 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001166420   ⟹   NP_001159892
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X72,567,582 - 72,572,843 (-)NCBI
GRCh37X71,549,366 - 71,792,953 (-)ENTREZGENE
HuRefX65,303,729 - 65,547,461 (-)ENTREZGENE
CHM1_1X71,680,391 - 71,685,931 (-)NCBI
T2T-CHM13v2.0X71,000,497 - 71,005,758 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001166422   ⟹   NP_001159894
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X72,567,582 - 72,572,843 (-)NCBI
GRCh37X71,549,366 - 71,792,953 (-)ENTREZGENE
HuRefX65,303,729 - 65,547,461 (-)ENTREZGENE
CHM1_1X71,680,391 - 71,685,931 (-)NCBI
T2T-CHM13v2.0X71,000,497 - 71,005,758 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001166448   ⟹   NP_001159920
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X72,473,416 - 72,572,843 (-)NCBI
GRCh37X71,549,366 - 71,792,953 (-)ENTREZGENE
HuRefX65,303,729 - 65,547,461 (-)ENTREZGENE
CHM1_1X71,586,254 - 71,685,931 (-)NCBI
T2T-CHM13v2.0X70,906,322 - 71,005,758 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001410725   ⟹   NP_001397654
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X72,329,516 - 72,572,843 (-)NCBI
T2T-CHM13v2.0X70,762,405 - 71,005,758 (-)NCBI
RefSeq Acc Id: NM_001410727   ⟹   NP_001397656
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X72,329,516 - 72,572,843 (-)NCBI
T2T-CHM13v2.0X70,762,405 - 71,005,758 (-)NCBI
RefSeq Acc Id: NM_001410728   ⟹   NP_001397657
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X72,329,516 - 72,572,843 (-)NCBI
T2T-CHM13v2.0X70,762,405 - 71,005,758 (-)NCBI
RefSeq Acc Id: NM_001410729   ⟹   NP_001397658
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X72,457,399 - 72,572,843 (-)NCBI
T2T-CHM13v2.0X70,890,301 - 71,005,758 (-)NCBI
RefSeq Acc Id: NM_001410730   ⟹   NP_001397659
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X72,473,416 - 72,572,843 (-)NCBI
T2T-CHM13v2.0X70,906,322 - 71,005,758 (-)NCBI
RefSeq Acc Id: NM_018486   ⟹   NP_060956
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X72,329,516 - 72,572,843 (-)NCBI
GRCh37X71,549,366 - 71,792,953 (-)ENTREZGENE
Build 36X71,466,091 - 71,709,378 (-)NCBI Archive
HuRefX65,303,729 - 65,547,461 (-)ENTREZGENE
CHM1_1X71,442,370 - 71,685,931 (-)NCBI
T2T-CHM13v2.0X70,762,405 - 71,005,758 (-)NCBI
Sequence:
RefSeq Acc Id: NR_051952
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X72,329,516 - 72,572,843 (-)NCBI
GRCh37X71,549,366 - 71,792,953 (-)NCBI
HuRefX65,303,729 - 65,547,461 (-)NCBI
CHM1_1X71,442,370 - 71,685,931 (-)NCBI
T2T-CHM13v2.0X70,762,405 - 71,005,758 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029640   ⟹   XP_016885129
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X72,329,516 - 72,572,843 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029643   ⟹   XP_016885132
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X72,329,516 - 72,572,843 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029644   ⟹   XP_016885133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X72,329,516 - 72,572,843 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029645   ⟹   XP_016885134
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X72,329,516 - 72,572,843 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047442252   ⟹   XP_047298208
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X72,352,442 - 72,572,843 (-)NCBI
RefSeq Acc Id: XM_047442255   ⟹   XP_047298211
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X72,329,516 - 72,572,843 (-)NCBI
RefSeq Acc Id: XM_047442256   ⟹   XP_047298212
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X72,329,516 - 72,572,101 (-)NCBI
RefSeq Acc Id: XM_047442257   ⟹   XP_047298213
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X72,329,516 - 72,494,341 (-)NCBI
RefSeq Acc Id: XM_054327390   ⟹   XP_054183365
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X70,762,405 - 71,005,758 (-)NCBI
RefSeq Acc Id: XM_054327391   ⟹   XP_054183366
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X70,785,332 - 71,005,758 (-)NCBI
RefSeq Acc Id: XM_054327392   ⟹   XP_054183367
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X70,762,405 - 71,005,758 (-)NCBI
RefSeq Acc Id: XM_054327393   ⟹   XP_054183368
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X70,762,405 - 71,005,758 (-)NCBI
RefSeq Acc Id: XM_054327394   ⟹   XP_054183369
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X70,762,405 - 71,005,758 (-)NCBI
RefSeq Acc Id: XM_054327395   ⟹   XP_054183370
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X70,762,405 - 71,005,758 (-)NCBI
RefSeq Acc Id: XM_054327396   ⟹   XP_054183371
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X70,762,405 - 71,005,016 (-)NCBI
RefSeq Acc Id: XM_054327397   ⟹   XP_054183372
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X70,762,405 - 70,927,246 (-)NCBI
RefSeq Acc Id: XR_008485495
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X70,762,405 - 71,005,758 (-)NCBI
RefSeq Acc Id: XR_938402
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X72,329,516 - 72,572,843 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001159890 (Get FASTA)   NCBI Sequence Viewer  
  NP_001159891 (Get FASTA)   NCBI Sequence Viewer  
  NP_001159892 (Get FASTA)   NCBI Sequence Viewer  
  NP_001159894 (Get FASTA)   NCBI Sequence Viewer  
  NP_001159920 (Get FASTA)   NCBI Sequence Viewer  
  NP_001397654 (Get FASTA)   NCBI Sequence Viewer  
  NP_001397656 (Get FASTA)   NCBI Sequence Viewer  
  NP_001397657 (Get FASTA)   NCBI Sequence Viewer  
  NP_001397658 (Get FASTA)   NCBI Sequence Viewer  
  NP_001397659 (Get FASTA)   NCBI Sequence Viewer  
  NP_060956 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885129 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885132 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885133 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885134 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298208 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298211 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298212 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298213 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183365 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183366 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183367 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183368 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183369 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183370 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183371 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183372 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF73076 (Get FASTA)   NCBI Sequence Viewer  
  AAF73428 (Get FASTA)   NCBI Sequence Viewer  
  AAH50433 (Get FASTA)   NCBI Sequence Viewer  
  AAK14930 (Get FASTA)   NCBI Sequence Viewer  
  BAG57992 (Get FASTA)   NCBI Sequence Viewer  
  BAG59242 (Get FASTA)   NCBI Sequence Viewer  
  BAG60909 (Get FASTA)   NCBI Sequence Viewer  
  BAG62534 (Get FASTA)   NCBI Sequence Viewer  
  CAB90213 (Get FASTA)   NCBI Sequence Viewer  
  EAW71821 (Get FASTA)   NCBI Sequence Viewer  
  EAW71822 (Get FASTA)   NCBI Sequence Viewer  
  EAW71823 (Get FASTA)   NCBI Sequence Viewer  
  EAW71824 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000362655
  ENSP00000362655.1
  ENSP00000362657
  ENSP00000362657.3
  ENSP00000362660
  ENSP00000362660.4
  ENSP00000362661.2
  ENSP00000362669.3
  ENSP00000362672.1
  ENSP00000362674
  ENSP00000362674.3
  ENSP00000362685
  ENSP00000362685.2
  ENSP00000362691
  ENSP00000362691.4
  ENSP00000396424
  ENSP00000396424.2
  ENSP00000398997.2
  ENSP00000400180.1
  ENSP00000414486
  ENSP00000414486.2
  ENSP00000416489.1
  ENSP00000496814.1
  ENSP00000496818
  ENSP00000496818.1
  ENSP00000496826.1
  ENSP00000496866.1
  ENSP00000496994.1
  ENSP00000497022.1
  ENSP00000497032.1
  ENSP00000497105.1
  ENSP00000497188
  ENSP00000497188.1
  ENSP00000497191.1
  ENSP00000497267.1
  ENSP00000497268.1
  ENSP00000497286.1
  ENSP00000497317.1
  ENSP00000497324.1
  ENSP00000497384.1
  ENSP00000497442.1
  ENSP00000497516.1
  ENSP00000497530.1
  ENSP00000497551.1
  ENSP00000497552.1
  ENSP00000497568
  ENSP00000497568.1
  ENSP00000497599.1
  ENSP00000497619.1
  ENSP00000497668.1
  ENSP00000497764
  ENSP00000497764.1
  ENSP00000497907.1
  ENSP00000497925.1
  ENSP00000497943.1
  ENSP00000498002.1
  ENSP00000498027.1
  ENSP00000498040.1
  ENSP00000498072.1
  ENSP00000498144
  ENSP00000498144.1
  ENSP00000498150.1
  ENSP00000498169.1
GenBank Protein Q9BY41 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_060956   ⟸   NM_018486
- Peptide Label: isoform 1
- UniProtKB: Q9NP76 (UniProtKB/Swiss-Prot),   Q86VC8 (UniProtKB/Swiss-Prot),   B4DV22 (UniProtKB/Swiss-Prot),   B4DKN0 (UniProtKB/Swiss-Prot),   A8MQ62 (UniProtKB/Swiss-Prot),   A6NJR3 (UniProtKB/Swiss-Prot),   A6NET3 (UniProtKB/Swiss-Prot),   A6ND61 (UniProtKB/Swiss-Prot),   A6ND12 (UniProtKB/Swiss-Prot),   Q9NYH4 (UniProtKB/Swiss-Prot),   Q9BY41 (UniProtKB/Swiss-Prot),   A0A3B3ITZ3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001159890   ⟸   NM_001166418
- Peptide Label: isoform 2
- UniProtKB: A0A3B3ISE4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001159891   ⟸   NM_001166419
- Peptide Label: isoform 3
- UniProtKB: A0A3B3IRZ8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001159920   ⟸   NM_001166448
- Peptide Label: isoform 6
- UniProtKB: Q9BY41 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001159894   ⟸   NM_001166422
- Peptide Label: isoform 5
- UniProtKB: A0A3B3IS93 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001159892   ⟸   NM_001166420
- Peptide Label: isoform 4
- UniProtKB: A0A3B3IS93 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885133   ⟸   XM_017029644
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016885134   ⟸   XM_017029645
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016885132   ⟸   XM_017029643
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016885129   ⟸   XM_017029640
- Peptide Label: isoform X1
- UniProtKB: A0A3B3ISJ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000496818   ⟸   ENST00000648139
RefSeq Acc Id: ENSP00000496994   ⟸   ENST00000648036
RefSeq Acc Id: ENSP00000497668   ⟸   ENST00000648504
RefSeq Acc Id: ENSP00000497552   ⟸   ENST00000648577
RefSeq Acc Id: ENSP00000497268   ⟸   ENST00000648452
RefSeq Acc Id: ENSP00000498072   ⟸   ENST00000648459
RefSeq Acc Id: ENSP00000496866   ⟸   ENST00000648298
RefSeq Acc Id: ENSP00000497619   ⟸   ENST00000648276
RefSeq Acc Id: ENSP00000497516   ⟸   ENST00000648962
RefSeq Acc Id: ENSP00000497442   ⟸   ENST00000648939
RefSeq Acc Id: ENSP00000497384   ⟸   ENST00000648850
RefSeq Acc Id: ENSP00000497764   ⟸   ENST00000648834
RefSeq Acc Id: ENSP00000497599   ⟸   ENST00000648870
RefSeq Acc Id: ENSP00000498040   ⟸   ENST00000648711
RefSeq Acc Id: ENSP00000497907   ⟸   ENST00000648731
RefSeq Acc Id: ENSP00000496826   ⟸   ENST00000649543
RefSeq Acc Id: ENSP00000498169   ⟸   ENST00000649518
RefSeq Acc Id: ENSP00000497943   ⟸   ENST00000649242
RefSeq Acc Id: ENSP00000497032   ⟸   ENST00000649274
RefSeq Acc Id: ENSP00000497925   ⟸   ENST00000649116
RefSeq Acc Id: ENSP00000498150   ⟸   ENST00000649181
RefSeq Acc Id: ENSP00000497267   ⟸   ENST00000649752
RefSeq Acc Id: ENSP00000497551   ⟸   ENST00000649097
RefSeq Acc Id: ENSP00000414486   ⟸   ENST00000439122
RefSeq Acc Id: ENSP00000362655   ⟸   ENST00000373554
RefSeq Acc Id: ENSP00000362657   ⟸   ENST00000373556
RefSeq Acc Id: ENSP00000362660   ⟸   ENST00000373559
RefSeq Acc Id: ENSP00000362661   ⟸   ENST00000373560
RefSeq Acc Id: ENSP00000362669   ⟸   ENST00000373568
RefSeq Acc Id: ENSP00000362672   ⟸   ENST00000373571
RefSeq Acc Id: ENSP00000362674   ⟸   ENST00000373573
RefSeq Acc Id: ENSP00000362685   ⟸   ENST00000373583
RefSeq Acc Id: ENSP00000362691   ⟸   ENST00000373589
RefSeq Acc Id: ENSP00000400180   ⟸   ENST00000412342
RefSeq Acc Id: ENSP00000498027   ⟸   ENST00000650471
RefSeq Acc Id: ENSP00000498144   ⟸   ENST00000650126
RefSeq Acc Id: ENSP00000497105   ⟸   ENST00000650604
RefSeq Acc Id: ENSP00000497191   ⟸   ENST00000650636
RefSeq Acc Id: ENSP00000497022   ⟸   ENST00000650076
RefSeq Acc Id: ENSP00000396424   ⟸   ENST00000415409
RefSeq Acc Id: ENSP00000497317   ⟸   ENST00000470998
RefSeq Acc Id: ENSP00000398997   ⟸   ENST00000421523
RefSeq Acc Id: ENSP00000416489   ⟸   ENST00000436675
RefSeq Acc Id: ENSP00000497286   ⟸   ENST00000647606
RefSeq Acc Id: ENSP00000497568   ⟸   ENST00000647654
RefSeq Acc Id: ENSP00000496814   ⟸   ENST00000647594
RefSeq Acc Id: ENSP00000498002   ⟸   ENST00000647980
RefSeq Acc Id: ENSP00000497324   ⟸   ENST00000647974
RefSeq Acc Id: ENSP00000497530   ⟸   ENST00000647859
RefSeq Acc Id: ENSP00000497188   ⟸   ENST00000647886
RefSeq Acc Id: XP_047298211   ⟸   XM_047442255
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047298212   ⟸   XM_047442256
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047298213   ⟸   XM_047442257
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047298208   ⟸   XM_047442252
- Peptide Label: isoform X2
RefSeq Acc Id: NP_001397657   ⟸   NM_001410728
- Peptide Label: isoform 9
- UniProtKB: A0A3B3IT30 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001397656   ⟸   NM_001410727
- Peptide Label: isoform 8
- UniProtKB: A6NFW1 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001397654   ⟸   NM_001410725
- Peptide Label: isoform 7
- UniProtKB: A0A3B3IS68 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001397658   ⟸   NM_001410729
- Peptide Label: isoform 10
- UniProtKB: A0A3B3ISS7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001397659   ⟸   NM_001410730
- Peptide Label: isoform 11
- UniProtKB: A0A3B3IU01 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183370   ⟸   XM_054327395
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054183368   ⟸   XM_054327393
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054183369   ⟸   XM_054327394
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054183367   ⟸   XM_054327392
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054183365   ⟸   XM_054327390
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054183371   ⟸   XM_054327396
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054183372   ⟸   XM_054327397
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054183366   ⟸   XM_054327391
- Peptide Label: isoform X2
Protein Domains
Histone deacetylase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BY41-F1-model_v2 AlphaFold Q9BY41 1-377 view protein structure

Promoters
RGD ID:6808734
Promoter ID:HG_KWN:67240
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000340176,   ENST00000373556,   ENST00000373560,   ENST00000373561,   ENST00000373568,   ENST00000373571,   ENST00000373583,   ENST00000373589,   NM_001166418,   NM_001166420,   NM_001166448,   OTTHUMT00000057193,   OTTHUMT00000057198,   OTTHUMT00000057201,   OTTHUMT00000057204,   OTTHUMT00000318662,   OTTHUMT00000318663,   OTTHUMT00000318664,   OTTHUMT00000318665,   UC004EAW.2,   UC010NLK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X71,709,276 - 71,709,792 (-)MPROMDB
RGD ID:13627454
Promoter ID:EPDNEW_H29002
Type:initiation region
Name:HDAC8_1
Description:histone deacetylase 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X72,572,816 - 72,572,876EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13315 AgrOrtholog
COSMIC HDAC8 COSMIC
Ensembl Genes ENSG00000147099 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000373554 ENTREZGENE
  ENST00000373554.6 UniProtKB/Swiss-Prot
  ENST00000373556 ENTREZGENE
  ENST00000373556.8 UniProtKB/Swiss-Prot
  ENST00000373559 ENTREZGENE
  ENST00000373559.8 UniProtKB/Swiss-Prot
  ENST00000373560.7 UniProtKB/TrEMBL
  ENST00000373568.7 UniProtKB/TrEMBL
  ENST00000373571.6 UniProtKB/TrEMBL
  ENST00000373573 ENTREZGENE
  ENST00000373573.9 UniProtKB/Swiss-Prot
  ENST00000373583 ENTREZGENE
  ENST00000373583.6 UniProtKB/TrEMBL
  ENST00000373589 ENTREZGENE
  ENST00000373589.9 UniProtKB/Swiss-Prot
  ENST00000412342.6 UniProtKB/TrEMBL
  ENST00000415409 ENTREZGENE
  ENST00000415409.6 UniProtKB/TrEMBL
  ENST00000421523.6 UniProtKB/TrEMBL
  ENST00000436675.6 UniProtKB/TrEMBL
  ENST00000439122 ENTREZGENE
  ENST00000439122.7 UniProtKB/Swiss-Prot
  ENST00000470998.2 UniProtKB/TrEMBL
  ENST00000647594 ENTREZGENE
  ENST00000647594.1 UniProtKB/TrEMBL
  ENST00000647606.1 UniProtKB/TrEMBL
  ENST00000647654 ENTREZGENE
  ENST00000647654.1 UniProtKB/TrEMBL
  ENST00000647859.1 UniProtKB/TrEMBL
  ENST00000647886 ENTREZGENE
  ENST00000647886.1 UniProtKB/TrEMBL
  ENST00000647974.1 UniProtKB/TrEMBL
  ENST00000647980.1 UniProtKB/TrEMBL
  ENST00000648036.1 UniProtKB/TrEMBL
  ENST00000648139 ENTREZGENE
  ENST00000648139.1 UniProtKB/TrEMBL
  ENST00000648276.1 UniProtKB/TrEMBL
  ENST00000648298.1 UniProtKB/TrEMBL
  ENST00000648452.1 UniProtKB/TrEMBL
  ENST00000648459.1 UniProtKB/TrEMBL
  ENST00000648504.1 UniProtKB/TrEMBL
  ENST00000648577.1 UniProtKB/TrEMBL
  ENST00000648711.1 UniProtKB/TrEMBL
  ENST00000648731.1 UniProtKB/TrEMBL
  ENST00000648834 ENTREZGENE
  ENST00000648834.1 UniProtKB/TrEMBL
  ENST00000648850.1 UniProtKB/TrEMBL
  ENST00000648870.1 UniProtKB/TrEMBL
  ENST00000648939.1 UniProtKB/TrEMBL
  ENST00000648962.1 UniProtKB/TrEMBL
  ENST00000649097.1 UniProtKB/TrEMBL
  ENST00000649116.1 UniProtKB/Swiss-Prot
  ENST00000649181.1 UniProtKB/TrEMBL
  ENST00000649242.1 UniProtKB/TrEMBL
  ENST00000649274.1 UniProtKB/TrEMBL
  ENST00000649518.1 UniProtKB/TrEMBL
  ENST00000649543.1 UniProtKB/TrEMBL
  ENST00000649752.1 UniProtKB/TrEMBL
  ENST00000650076.1 UniProtKB/TrEMBL
  ENST00000650126 ENTREZGENE
  ENST00000650126.1 UniProtKB/TrEMBL
  ENST00000650471 ENTREZGENE
  ENST00000650471.1 UniProtKB/TrEMBL
  ENST00000650604.1 UniProtKB/TrEMBL
  ENST00000650636.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.800.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000147099 GTEx
HGNC ID HGNC:13315 ENTREZGENE
Human Proteome Map HDAC8 Human Proteome Map
InterPro His_deacetylse UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  His_deacetylse_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  His_deacetylse_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  His_deacetylse_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ureohydrolase_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55869 UniProtKB/Swiss-Prot
NCBI Gene 55869 ENTREZGENE
OMIM 300269 OMIM
PANTHER HIST_DEACETYL DOMAIN-CONTAINING PROTEIN UniProtKB/TrEMBL
  HISTONE DEACETYLASE 2-RELATED UniProtKB/TrEMBL
  HISTONE DEACETYLASE 8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HISTONE DEACETYLASE HDAC1-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Hist_deacetyl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37766 PharmGKB
PIRSF His_deacetylse_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS F138DOMAIN UniProtKB/TrEMBL
  HDASUPER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HISDACETLASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52768 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A3B3IRI9_HUMAN UniProtKB/TrEMBL
  A0A3B3IRJ3_HUMAN UniProtKB/TrEMBL
  A0A3B3IRJ8_HUMAN UniProtKB/TrEMBL
  A0A3B3IRP8_HUMAN UniProtKB/TrEMBL
  A0A3B3IRZ0_HUMAN UniProtKB/TrEMBL
  A0A3B3IRZ8 ENTREZGENE, UniProtKB/TrEMBL
  A0A3B3IS08_HUMAN UniProtKB/TrEMBL
  A0A3B3IS37_HUMAN UniProtKB/TrEMBL
  A0A3B3IS68 ENTREZGENE, UniProtKB/TrEMBL
  A0A3B3IS93 ENTREZGENE, UniProtKB/TrEMBL
  A0A3B3ISB8_HUMAN UniProtKB/TrEMBL
  A0A3B3ISE4 ENTREZGENE, UniProtKB/TrEMBL
  A0A3B3ISG7_HUMAN UniProtKB/TrEMBL
  A0A3B3ISJ4 ENTREZGENE, UniProtKB/TrEMBL
  A0A3B3ISN6_HUMAN UniProtKB/TrEMBL
  A0A3B3ISP0_HUMAN UniProtKB/TrEMBL
  A0A3B3ISS7 ENTREZGENE, UniProtKB/TrEMBL
  A0A3B3ISY0_HUMAN UniProtKB/TrEMBL
  A0A3B3IT04_HUMAN UniProtKB/TrEMBL
  A0A3B3IT30 ENTREZGENE, UniProtKB/TrEMBL
  A0A3B3IT84_HUMAN UniProtKB/TrEMBL
  A0A3B3IT95_HUMAN UniProtKB/TrEMBL
  A0A3B3IT98_HUMAN UniProtKB/TrEMBL
  A0A3B3ITV2_HUMAN UniProtKB/TrEMBL
  A0A3B3ITZ3 ENTREZGENE, UniProtKB/TrEMBL
  A0A3B3IU01 ENTREZGENE, UniProtKB/TrEMBL
  A0A3B3IU21_HUMAN UniProtKB/TrEMBL
  A0A3B3IU52_HUMAN UniProtKB/TrEMBL
  A0A3B3IU62_HUMAN UniProtKB/TrEMBL
  A0A3B3IUD1_HUMAN UniProtKB/TrEMBL
  A6ND12 ENTREZGENE
  A6ND61 ENTREZGENE
  A6NET3 ENTREZGENE
  A6NFW1 ENTREZGENE, UniProtKB/TrEMBL
  A6NGJ7_HUMAN UniProtKB/TrEMBL
  A6NGT0_HUMAN UniProtKB/TrEMBL
  A6NJR3 ENTREZGENE
  A6NMT1_HUMAN UniProtKB/TrEMBL
  A8MQ62 ENTREZGENE
  B4DKN0 ENTREZGENE
  B4DV22 ENTREZGENE
  C9J8F0_HUMAN UniProtKB/TrEMBL
  E7EVA8_HUMAN UniProtKB/TrEMBL
  E7EW22_HUMAN UniProtKB/TrEMBL
  F8WCG4_HUMAN UniProtKB/TrEMBL
  HDAC8_HUMAN UniProtKB/Swiss-Prot
  Q86VC8 ENTREZGENE
  Q9BY41 ENTREZGENE
  Q9NP76 ENTREZGENE
  Q9NYH4 ENTREZGENE
UniProt Secondary A6ND12 UniProtKB/Swiss-Prot
  A6ND61 UniProtKB/Swiss-Prot
  A6NET3 UniProtKB/Swiss-Prot
  A6NJR3 UniProtKB/Swiss-Prot
  A8MQ62 UniProtKB/Swiss-Prot
  B4DKN0 UniProtKB/Swiss-Prot
  B4DV22 UniProtKB/Swiss-Prot
  Q86VC8 UniProtKB/Swiss-Prot
  Q9NP76 UniProtKB/Swiss-Prot
  Q9NYH4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 HDAC8  histone deacetylase 8  WTS  Wilson-Turner X-linked mental retardation syndrome  Data merged from RGD:1342868 737654 PROVISIONAL