ADNP (activity dependent neuroprotector homeobox) - Rat Genome Database

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Gene: ADNP (activity dependent neuroprotector homeobox) Homo sapiens
Analyze
Symbol: ADNP
Name: activity dependent neuroprotector homeobox
RGD ID: 737453
HGNC Page HGNC:15766
Description: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within negative regulation of neuron apoptotic process. Part of RNA polymerase II transcription regulator complex. Implicated in Helsmoortel-Van Der Aa Syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: activity-dependent neuroprotective protein; activity-dependent neuroprotector; activity-dependent neuroprotector homeobox; ADNP homeobox 1; ADNP1; HVDAS; KIAA0784; MRD28
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382050,888,918 - 50,931,437 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2050,888,916 - 50,931,437 (-)Ensemblhg38GRCh38
GRCh372049,505,455 - 49,547,974 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362048,940,290 - 48,980,934 (-)NCBIBuild 36Build 36hg18NCBI36
Build 342048,940,289 - 48,980,934NCBI
Celera2046,211,143 - 46,251,787 (-)NCBICelera
Cytogenetic Map20q13.13NCBI
HuRef2046,255,283 - 46,295,816 (-)NCBIHuRef
CHM1_12049,412,276 - 49,452,793 (-)NCBICHM1_1
T2T-CHM13v2.02052,659,514 - 52,702,036 (-)NCBIT2T-CHM13v2.0
JBrowse:




Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
1H-[1,2,4]oxadiazolo[4,3-a]quinoxalin-1-one  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
7-nitroindazole  (ISO)
acrolein  (EXP)
aflatoxin B1  (EXP)
alpha-pinene  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
Brodifacoum  (ISO)
butanal  (EXP)
caffeine  (EXP)
cantharidin  (ISO)
cisplatin  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
coumarin  (EXP)
cyclosporin A  (ISO)
decabromodiphenyl ether  (ISO)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dioxygen  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
enzyme inhibitor  (ISO)
ethyl methanesulfonate  (EXP)
formaldehyde  (EXP)
FR900359  (EXP)
gentamycin  (ISO)
hexadecanoic acid  (EXP)
hydrogen peroxide  (EXP)
indometacin  (EXP)
ivermectin  (EXP)
kainic acid  (ISO)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP)
methidathion  (ISO)
methimazole  (ISO)
methoxychlor  (ISO)
nickel subsulfide  (ISO)
nicotine  (ISO)
ozone  (EXP)
paracetamol  (EXP,ISO)
pirinixic acid  (ISO)
propiconazole  (ISO)
quercetin  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
sodium arsenite  (EXP)
Soman  (ISO)
sulfadimethoxine  (ISO)
sulforaphane  (ISO)
testosterone  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
uranium atom  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
2-3 toe syndactyly  (IAGP)
Abnormal brain morphology  (IAGP)
Abnormal cardiovascular system morphology  (IAGP)
Abnormal finger morphology  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal nail morphology  (IAGP)
Abnormal speech pattern  (IAGP)
Abnormal temper tantrums  (IAGP)
Abnormal toe morphology  (IAGP)
Abnormality of the dentition  (IAGP)
Absent speech  (IAGP)
Advanced eruption of teeth  (IAGP)
Agenesis of corpus callosum  (IAGP)
Aggressive behavior  (IAGP)
Amblyopia  (IAGP)
Ankyloglossia  (IAGP)
Anteverted nares  (IAGP)
Anxiety  (IAGP)
Aspiration  (IAGP)
Astigmatism  (IAGP)
Atrial septal defect  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bilateral ptosis  (IAGP)
Brachycephaly  (IAGP)
Brachydactyly  (IAGP)
Broad face  (IAGP)
Broad hallux  (IAGP)
Broad nasal tip  (IAGP)
Broad thumb  (IAGP)
Bruxism  (IAGP)
Carious teeth  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral visual impairment  (IAGP)
Chronic constipation  (IAGP)
Chronic diarrhea  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coarse facial features  (IAGP)
Compulsive behaviors  (IAGP)
Congenital onset  (IAGP)
Constipation  (IAGP)
Cryptorchidism  (IAGP)
Cupped ear  (IAGP)
Decreased response to growth hormone stimulation test  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental regression  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dysphagia  (IAGP)
Echolalia  (IAGP)
Ectropion of lower eyelids  (IAGP)
Enlarged kidney  (IAGP)
Enuresis nocturna  (IAGP)
Epicanthus  (IAGP)
Episodic vomiting  (IAGP)
Everted lower lip vermilion  (IAGP)
Exotropia  (IAGP)
Eyelid coloboma  (IAGP)
Facial palsy  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Floppy infant  (IAGP)
Focal white matter lesions  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastrostomy tube feeding in infancy  (IAGP)
Generalized neonatal hypotonia  (IAGP)
Genu valgum  (IAGP)
Gliosis  (IAGP)
Global developmental delay  (IAGP)
Happy demeanor  (IAGP)
Heart murmur  (IAGP)
High anterior hairline  (IAGP)
High, narrow palate  (IAGP)
Hirsutism  (IAGP)
Hyperactivity  (IAGP)
Hyperlordosis  (IAGP)
Hypermetropia  (IAGP)
Hypertelorism  (IAGP)
Hypertonia  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypothyroidism  (IAGP)
Hypotonia  (IAGP)
Impaired mastication  (IAGP)
Infantile onset  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Iris coloboma  (IAGP)
Irritability  (IAGP)
Joint hypermobility  (IAGP)
Juvenile cataract  (IAGP)
Juvenile onset  (IAGP)
Lateral ventricle dilatation  (IAGP)
Long face  (IAGP)
Long palpebral fissure  (IAGP)
Long philtrum  (IAGP)
Low-set ears  (IAGP)
Meconium stained amniotic fluid  (IAGP)
Microcephaly  (IAGP)
Microdontia  (IAGP)
Microtia  (IAGP)
Midface retrusion  (IAGP)
Mild global developmental delay  (IAGP)
Mitral regurgitation  (IAGP)
Mitral valve prolapse  (IAGP)
Moderate global developmental delay  (IAGP)
Motor delay  (IAGP)
Motor stereotypy  (IAGP)
Narrow palpebral fissure  (IAGP)
Neonatal onset  (IAGP)
Neurodevelopmental delay  (IAGP)
Obesity  (IAGP)
Oligodontia  (IAGP)
Oral-pharyngeal dysphagia  (IAGP)
Pectus excavatum  (IAGP)
Pes planus  (IAGP)
Pineal cyst  (IAGP)
Plagiocephaly  (IAGP)
Polydactyly  (IAGP)
Polyphagia  (IAGP)
Poor head control  (IAGP)
Posterior plagiocephaly  (IAGP)
Posteriorly rotated ears  (IAGP)
Premature rupture of membranes  (IAGP)
Prominent fingertip pads  (IAGP)
Prominent forehead  (IAGP)
Protruding ear  (IAGP)
Ptosis  (IAGP)
Recurrent respiratory infections  (IAGP)
Recurrent upper respiratory tract infections  (IAGP)
Recurrent urinary tract infections  (IAGP)
Reduced circulating growth hormone concentration  (IAGP)
Reduced eye contact  (IAGP)
Reduced social responsiveness  (IAGP)
Respiratory distress  (IAGP)
Sandal gap  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Severe global developmental delay  (IAGP)
Short 4th toe  (IAGP)
Short chin  (IAGP)
Short lower limbs  (IAGP)
Short nose  (IAGP)
Short palpebral fissure  (IAGP)
Short stature  (IAGP)
Single transverse palmar crease  (IAGP)
Slanting of the palpebral fissure  (IAGP)
Sleep abnormality  (IAGP)
Small hand  (IAGP)
Smooth philtrum  (IAGP)
Sparse scalp hair  (IAGP)
Strabismus  (IAGP)
Tapered finger  (IAGP)
Thick lower lip vermilion  (IAGP)
Thin skin  (IAGP)
Thin upper lip vermilion  (IAGP)
Thin vermilion border  (IAGP)
Tonic seizure  (IAGP)
Trigonocephaly  (IAGP)
Truncal obesity  (IAGP)
Typical absence seizure  (IAGP)
Umbilical hernia  (IAGP)
Upslanted palpebral fissure  (IAGP)
Urinary incontinence  (IAGP)
Ventriculomegaly  (IAGP)
Visual impairment  (IAGP)
Vomiting  (IAGP)
Wide intermamillary distance  (IAGP)
Wide mouth  (IAGP)
Wide nasal bridge  (IAGP)
Widely spaced teeth  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Complete sequence of a novel protein containing a femtomolar-activity-dependent neuroprotective peptide. Bassan M, etal., J Neurochem. 1999 Mar;72(3):1283-93.
2. A peptide derived from activity-dependent neuroprotective protein (ADNP) ameliorates injury response in closed head injury in mice. Beni-Adani L, etal., J Pharmacol Exp Ther. 2001 Jan;296(1):57-63.
3. Peptide-mediated protection from ethanol-induced neural tube defects. Chen SY, etal., Dev Neurosci. 2005 Jan-Feb;27(1):13-9.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. The neuropeptide NAP provides neuroprotection against retinal ganglion cell damage after retinal ischemia and optic nerve crush. Jehle T, etal., Graefes Arch Clin Exp Ophthalmol. 2008 Sep;246(9):1255-63. Epub 2008 Apr 15.
6. Neuroprotective effect of the peptides ADNF-9 and NAP on hypoxic-ischemic brain injury in neonatal rats. Kumral A, etal., Brain Res. 2006 Oct 18;1115(1):169-78. Epub 2006 Aug 30.
7. NAP, a femtomolar-acting peptide, protects the brain against ischemic injury by reducing apoptotic death. Leker RR, etal., Stroke 2002 Apr;33(4):1085-92.
8. A neuronal microtubule-interacting agent, NAPVSIPQ, reduces tau pathology and enhances cognitive function in a mouse model of Alzheimer's disease. Matsuoka Y, etal., J Pharmacol Exp Ther. 2008 Apr;325(1):146-53. Epub 2008 Jan 16.
9. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
11. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
12. Activity-dependent neuroprotective protein snippet NAP reduces tau hyperphosphorylation and enhances learning in a novel transgenic mouse model. Vulih-Shultzman I, etal., J Pharmacol Exp Ther. 2007 Nov;323(2):438-49. Epub 2007 Aug 24.
Additional References at PubMed
PMID:9872452   PMID:11013255   PMID:11780052   PMID:12477932   PMID:15489334   PMID:17081983   PMID:17345061   PMID:17474147   PMID:17878164   PMID:18029348   PMID:19274049   PMID:19923857  
PMID:20562864   PMID:20598862   PMID:20850016   PMID:21150319   PMID:21647709   PMID:21873635   PMID:21888893   PMID:21900206   PMID:21988832   PMID:22554909   PMID:22586326   PMID:22939629  
PMID:23403292   PMID:23752268   PMID:23858473   PMID:24365867   PMID:24457600   PMID:24531329   PMID:24711643   PMID:24981860   PMID:25169753   PMID:25217961   PMID:25452129   PMID:25533962  
PMID:25609649   PMID:25646590   PMID:25665578   PMID:25852190   PMID:25921289   PMID:25955282   PMID:26186194   PMID:26299517   PMID:26496610   PMID:27003787   PMID:27054228   PMID:27308845  
PMID:27437069   PMID:27637333   PMID:27705803   PMID:27790361   PMID:27903678   PMID:28221363   PMID:28242625   PMID:28407407   PMID:28514442   PMID:28794006   PMID:28940660   PMID:28977666  
PMID:29117863   PMID:29229926   PMID:29348145   PMID:29424797   PMID:29459360   PMID:29467282   PMID:29509190   PMID:29540532   PMID:29568061   PMID:29704455   PMID:29724491   PMID:29795351  
PMID:29844126   PMID:29911927   PMID:30021884   PMID:30107084   PMID:30415952   PMID:30463901   PMID:30554943   PMID:30585729   PMID:30679581   PMID:30804502   PMID:30884312   PMID:30890647  
PMID:30948266   PMID:31029150   PMID:31091453   PMID:31180492   PMID:31248990   PMID:31586073   PMID:31664177   PMID:31741433   PMID:31767542   PMID:32416067   PMID:32533114   PMID:32687490  
PMID:32744500   PMID:32758449   PMID:32807901   PMID:32891193   PMID:32971831   PMID:33086621   PMID:33111431   PMID:33283408   PMID:33503405   PMID:33660365   PMID:33916271   PMID:33961781  
PMID:33967268   PMID:34079125   PMID:34162889   PMID:34189442   PMID:34244565   PMID:34349018   PMID:34551306   PMID:34795231   PMID:34865853   PMID:35013218   PMID:35032548   PMID:35044719  
PMID:35140242   PMID:35182466   PMID:35271311   PMID:35439318   PMID:35545047   PMID:35563538   PMID:35785414   PMID:35831314   PMID:35944360   PMID:36089195   PMID:36215168   PMID:36230962  
PMID:36362439   PMID:36373674   PMID:36424410   PMID:36484392   PMID:36526897   PMID:36669790   PMID:36736316   PMID:36945042   PMID:36950384   PMID:37059091   PMID:37071664   PMID:37071682  
PMID:37108203   PMID:37525242   PMID:37689310   PMID:37827155   PMID:37906146   PMID:38254177   PMID:38280479   PMID:38282129   PMID:38622540   PMID:38697112   PMID:39617063   PMID:40437099  


Genomics

Comparative Map Data
ADNP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382050,888,918 - 50,931,437 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2050,888,916 - 50,931,437 (-)Ensemblhg38GRCh38
GRCh372049,505,455 - 49,547,974 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362048,940,290 - 48,980,934 (-)NCBIBuild 36Build 36hg18NCBI36
Build 342048,940,289 - 48,980,934NCBI
Celera2046,211,143 - 46,251,787 (-)NCBICelera
Cytogenetic Map20q13.13NCBI
HuRef2046,255,283 - 46,295,816 (-)NCBIHuRef
CHM1_12049,412,276 - 49,452,793 (-)NCBICHM1_1
T2T-CHM13v2.02052,659,514 - 52,702,036 (-)NCBIT2T-CHM13v2.0
Adnp
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392168,022,885 - 168,049,032 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2168,022,906 - 168,049,032 (-)EnsemblGRCm39 EnsemblGRCm39
GRCm382168,180,965 - 168,207,112 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2168,180,986 - 168,207,112 (-)Ensemblmm10GRCm38
MGSCv372168,006,465 - 168,032,562 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv362168,006,465 - 168,032,562 (-)NCBIMGSCv36mm8
Celera2174,124,697 - 174,151,114 (-)NCBICelera
Cytogenetic Map2H3NCBI
cM Map288.41NCBI
Adnp
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83177,310,258 - 177,340,379 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl3177,310,258 - 177,336,188 (-)EnsemblGRCr8
mRatBN7.23156,886,921 - 156,921,500 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3156,891,381 - 156,917,312 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx3160,686,196 - 160,712,108 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03169,185,277 - 169,211,206 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03166,926,977 - 166,952,906 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.03164,937,188 - 164,964,819 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3164,937,198 - 164,964,702 (-)Ensemblrn6Rnor6.0
Rnor_5.03171,077,543 - 171,087,330 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.43159,345,280 - 159,355,067 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera3155,464,855 - 155,474,635 (-)NCBICelera
RGSC_v3.13159,253,471 - 159,255,943 (-)NCBI
Cytogenetic Map3q42NCBI
Adnp
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554457,492,257 - 7,531,862 (+)Ensembl
ChiLan1.0NW_0049554457,498,223 - 7,530,828 (+)NCBIChiLan1.0ChiLan1.0
ADNP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22156,639,252 - 56,680,364 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12056,632,380 - 56,673,982 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02047,233,696 - 47,276,075 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12048,361,036 - 48,400,399 (-)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2048,361,043 - 48,400,387 (-)EnsemblpanPan2panpan1.1
ADNP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12437,211,776 - 37,245,938 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2437,213,942 - 37,243,702 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha2436,453,839 - 36,487,910 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.02437,921,440 - 37,955,536 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2437,922,782 - 37,953,382 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12437,156,924 - 37,191,002 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02437,290,872 - 37,324,932 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02437,835,833 - 37,869,965 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Adnp
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640188,401,492 - 188,429,717 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365143,855,672 - 3,885,718 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049365143,855,113 - 3,883,036 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ADNP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1752,317,913 - 52,332,079 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.11752,316,388 - 52,350,732 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21758,757,490 - 58,790,779 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ADNP
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1213,037,446 - 13,080,287 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl213,039,866 - 13,081,161 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366605061,470,166 - 61,513,443 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Adnp
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247904,832,494 - 4,854,845 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_0046247904,822,467 - 4,854,852 (+)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in ADNP
694 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001282531.3(ADNP):c.337_340del (p.Thr113fs) deletion not provided [RCV000521282] Chr20:50894374..50894377 [GRCh38]
Chr20:49510911..49510914 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.2194_2197del (p.Leu732fs) deletion ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV000767524]|not provided [RCV000522712] Chr20:50892517..50892520 [GRCh38]
Chr20:49509054..49509057 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.1287dup (p.Ala430fs) duplication not provided [RCV000521417] Chr20:50893426..50893427 [GRCh38]
Chr20:49509963..49509964 [GRCh37]
Chr20:20q13.13		 pathogenic
NC_000020.10:g.49508752_4950875delTTTA deletion Helsmoortel-van der aa syndrome [RCV000170478]|Mental retardation, autosomal dominant 28 [RCV000170478] Chr20:20q13.13 pathogenic
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter) duplication ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV000170479]|Inborn genetic diseases [RCV002426805]|Intellectual disability [RCV001249500]|Neurodevelopmental disorder [RCV002277322]|not provided [RCV000627402] Chr20:50892557..50892558 [GRCh38]
Chr20:49509094..49509095 [GRCh37]
Chr20:20q13.13		 pathogenic|likely pathogenic
NM_001282531.3(ADNP):c.1222_1223del (p.Lys408fs) deletion ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV000170480] Chr20:50893491..50893492 [GRCh38]
Chr20:49510028..49510029 [GRCh37]
Chr20:20q13.13		 pathogenic|likely pathogenic
GRCh38/hg38 20q13.13-13.2(chr20:49731076-51202566)x1 copy number loss See cases [RCV000052767] Chr20:49731076..51202566 [GRCh38]
Chr20:48347613..49819103 [GRCh37]
Chr20:47781020..49252510 [NCBI36]
Chr20:20q13.13-13.2		 pathogenic
GRCh38/hg38 20q13.13-13.2(chr20:49947237-55875406)x3 copy number gain See cases [RCV000053037] Chr20:49947237..55875406 [GRCh38]
Chr20:48563774..54450462 [GRCh37]
Chr20:47997181..53883869 [NCBI36]
Chr20:20q13.13-13.2		 pathogenic
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3 copy number gain See cases [RCV000053035] Chr20:44787704..64277321 [GRCh38]
Chr20:43416345..62908674 [GRCh37]
Chr20:42849759..62379118 [NCBI36]
Chr20:20q13.12-13.33		 pathogenic
NM_001282531.3(ADNP):c.2808del (p.Lys935_Tyr936insTer) deletion ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV000128577] Chr20:50891906 [GRCh38]
Chr20:49508443 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.2250_2274del (p.Val751fs) deletion Autism spectrum disorder [RCV001291372] Chr20:50892440..50892464 [GRCh38]
Chr20:49508977..49509001 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_001282531.3(ADNP):c.2491_2494del (p.Leu831fs) deletion ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV000128574]|Inborn genetic diseases [RCV004019727]|Intellectual disability [RCV001526522]|not provided [RCV000485997] Chr20:50892220..50892223 [GRCh38]
Chr20:49508757..49508760 [GRCh37]
Chr20:20q13.13		 pathogenic|likely pathogenic
NM_001282531.3(ADNP):c.2496_2499del (p.Asn832fs) microsatellite ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV000128575]|Inborn genetic diseases [RCV002312954]|not provided [RCV000255626] Chr20:50892215..50892218 [GRCh38]
Chr20:49508752..49508755 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.1211C>A (p.Ser404Ter) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV000128576] Chr20:50893503 [GRCh38]
Chr20:49510040 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.2157C>G (p.Tyr719Ter) single nucleotide variant ADNP-related disorder [RCV004739427]|ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV000128578]|Inborn genetic diseases [RCV000190684]|not provided [RCV000483727] Chr20:50892557 [GRCh38]
Chr20:49509094 [GRCh37]
Chr20:20q13.13		 pathogenic|likely pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20q13.13-13.2(chr20:50781990-52792847)x1 copy number loss See cases [RCV000137265] Chr20:50781990..52792847 [GRCh38]
Chr20:49398527..51409386 [GRCh37]
Chr20:48831934..50842793 [NCBI36]
Chr20:20q13.13-13.2		 pathogenic
GRCh38/hg38 20q13.13-13.2(chr20:49989123-51495645)x1 copy number loss See cases [RCV000137268] Chr20:49989123..51495645 [GRCh38]
Chr20:48605660..50112183 [GRCh37]
Chr20:48039067..49545590 [NCBI36]
Chr20:20q13.13-13.2		 likely pathogenic
GRCh37/hg19 20q13.13-13.2(chr20:47682662-49884981)x1 copy number loss See cases [RCV000167570] Chr20:47682662..49884981 [GRCh37]
Chr20:20q13.13-13.2		 likely pathogenic
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV000258940]|Corpus callosum, agenesis of [RCV000414762]|Inborn genetic diseases [RCV000623455]|not provided [RCV000497305] Chr20:50892526 [GRCh38]
Chr20:49509063 [GRCh37]
Chr20:20q13.13		 pathogenic|likely pathogenic
NM_001282531.3(ADNP):c.3278_3279dup (p.Gly1094fs) duplication ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV000210859] Chr20:50891434..50891435 [GRCh38]
Chr20:49507971..49507972 [GRCh37]
Chr20:20q13.13		 benign|not provided
NM_001282531.3(ADNP):c.2743G>A (p.Val915Ile) single nucleotide variant ADNP-related disorder [RCV003930022]|ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV002253315]|Inborn genetic diseases [RCV002311363]|not provided [RCV000882630]|not specified [RCV000238779] Chr20:50891971 [GRCh38]
Chr20:49508508 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_001282531.3(ADNP):c.1106_1108delinsCTGT (p.Leu369fs) indel not provided [RCV000255861] Chr20:50893606..50893608 [GRCh38]
Chr20:49510143..49510145 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.2157C>A (p.Tyr719Ter) single nucleotide variant ADNP-related disorder [RCV004739651]|ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV001265359]|Inborn genetic diseases [RCV004975381]|not provided [RCV000404317] Chr20:50892557 [GRCh38]
Chr20:49509094 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.985C>G (p.Gln329Glu) single nucleotide variant Inborn genetic diseases [RCV004021183]|not provided [RCV000359093] Chr20:50893729 [GRCh38]
Chr20:49510266 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.790C>T (p.Arg264Ter) single nucleotide variant not provided [RCV000263209] Chr20:50893924 [GRCh38]
Chr20:49510461 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.190dup (p.Thr64fs) duplication ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV000990316]|not provided [RCV000264663] Chr20:50902027..50902028 [GRCh38]
Chr20:49518564..49518565 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.330dup (p.Tyr111fs) duplication not provided [RCV000300110] Chr20:50894383..50894384 [GRCh38]
Chr20:49510920..49510921 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.2268dup (p.Lys757fs) duplication not provided [RCV000336111] Chr20:50892445..50892446 [GRCh38]
Chr20:49508982..49508983 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.1235del (p.Leu412fs) deletion not provided [RCV000350495] Chr20:50893479 [GRCh38]
Chr20:49510016 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.2378T>G (p.Leu793Ter) single nucleotide variant not provided [RCV000358546] Chr20:50892336 [GRCh38]
Chr20:49508873 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.819del (p.Lys274fs) deletion ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV001265360]|not provided [RCV000362536] Chr20:50893895 [GRCh38]
Chr20:49510432 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.1102C>T (p.Gln368Ter) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV000269400]|not provided [RCV003229829] Chr20:50893612 [GRCh38]
Chr20:49510149 [GRCh37]
Chr20:20q13.13		 pathogenic|uncertain significance
NM_001282531.3(ADNP):c.2165T>C (p.Met722Thr) single nucleotide variant not provided [RCV000489062] Chr20:50892549 [GRCh38]
Chr20:49509086 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2386T>C (p.Trp796Arg) single nucleotide variant not provided [RCV002285925] Chr20:50892328 [GRCh38]
Chr20:49508865 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2499del (p.Val834fs) deletion Inborn genetic diseases [RCV000622522] Chr20:50892215 [GRCh38]
Chr20:49508752 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.2230G>T (p.Glu744Ter) single nucleotide variant not provided [RCV000579003] Chr20:50892484 [GRCh38]
Chr20:49509021 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.1876_1892del (p.Leu626fs) deletion not provided [RCV000598892] Chr20:50892822..50892838 [GRCh38]
Chr20:49509359..49509375 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.1179_1180del (p.Leu394fs) deletion not provided [RCV000599023] Chr20:50893534..50893535 [GRCh38]
Chr20:49510071..49510072 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_001282531.3(ADNP):c.2187dup (p.Arg730fs) duplication not provided [RCV000599400] Chr20:50892526..50892527 [GRCh38]
Chr20:49509063..49509064 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_001282531.3(ADNP):c.1337G>A (p.Trp446Ter) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV002506518]|Inborn genetic diseases [RCV000623945] Chr20:50893377 [GRCh38]
Chr20:49509914 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.1063G>A (p.Ala355Thr) single nucleotide variant ADNP-related disorder [RCV003945402]|ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV005027703]|Inborn genetic diseases [RCV002315891]|not provided [RCV000597749] Chr20:50893651 [GRCh38]
Chr20:49510188 [GRCh37]
Chr20:20q13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001282531.3(ADNP):c.3307dup (p.Ter1103LeuextTer?) duplication not provided [RCV000656276] Chr20:50891406..50891407 [GRCh38]
Chr20:49507943..49507944 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_001282531.3(ADNP):c.2318dup (p.Tyr774fs) duplication ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV000414810] Chr20:50892395..50892396 [GRCh38]
Chr20:49508932..49508933 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.673C>T (p.Arg225Ter) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV005252882]|Autism, severe [RCV000414834]|Global developmental delay [RCV001526556]|not provided [RCV003437160] Chr20:50894041 [GRCh38]
Chr20:49510578 [GRCh37]
Chr20:20q13.13		 pathogenic|likely pathogenic
NM_001282531.3(ADNP):c.539_542del (p.Val180fs) deletion ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV000626043]|Inborn genetic diseases [RCV000622346]|not provided [RCV000413777] Chr20:50894172..50894175 [GRCh38]
Chr20:49510709..49510712 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.1141G>C (p.Gly381Arg) single nucleotide variant not provided [RCV002522535]|not specified [RCV000431223] Chr20:50893573 [GRCh38]
Chr20:49510110 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.1717del (p.Asp573fs) deletion ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV000505245] Chr20:50892997 [GRCh38]
Chr20:49509534 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_001282531.3(ADNP):c.1677C>A (p.His559Gln) single nucleotide variant not provided [RCV000421994] Chr20:50893037 [GRCh38]
Chr20:49509574 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2213C>G (p.Ser738Ter) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV001618684]|Inborn genetic diseases [RCV000622544]|See cases [RCV003985350]|not provided [RCV000428470] Chr20:50892501 [GRCh38]
Chr20:49509038 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.1855G>T (p.Val619Phe) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV001265427]|not provided [RCV000436690] Chr20:50892859 [GRCh38]
Chr20:49509396 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.-5-1G>A single nucleotide variant not provided [RCV000484358] Chr20:50904002 [GRCh38]
Chr20:49520539 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.845del (p.Gly282fs) deletion not provided [RCV000484504] Chr20:50893869 [GRCh38]
Chr20:49510406 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.70del (p.Ser24fs) deletion not provided [RCV000478811] Chr20:50903927 [GRCh38]
Chr20:49520464 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.1754dup (p.Asn585fs) duplication not provided [RCV000485662] Chr20:50892959..50892960 [GRCh38]
Chr20:49509496..49509497 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_001282531.3(ADNP):c.106dup (p.Glu36fs) duplication not provided [RCV000479632] Chr20:50903890..50903891 [GRCh38]
Chr20:49520427..49520428 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_001282531.3(ADNP):c.3279C>T (p.Ala1093=) single nucleotide variant ADNP-related disorder [RCV003960145]|ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV002253495]|Inborn genetic diseases [RCV002314860]|not provided [RCV000953394]|not specified [RCV000500955] Chr20:50891435 [GRCh38]
Chr20:49507972 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_001282531.3(ADNP):c.669C>T (p.Cys223=) single nucleotide variant not provided [RCV000498834] Chr20:50894045 [GRCh38]
Chr20:49510582 [GRCh37]
Chr20:20q13.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_001282531.3(ADNP):c.2772G>C (p.Glu924Asp) single nucleotide variant ADNP-related disorder [RCV003932805]|not provided [RCV000904423]|not specified [RCV000501140] Chr20:50891942 [GRCh38]
Chr20:49508479 [GRCh37]
Chr20:20q13.13		 benign|likely benign|uncertain significance
NM_001282531.2(ADNP):c.2156dup (p.Tyr719Terfs) duplication Helsmoortel-van der aa syndrome [RCV000496136] Chr20:50892558 [GRCh38]
Chr20:49509095 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.517C>T (p.Arg173Ter) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV000496157]|not provided [RCV001008669] Chr20:50894197 [GRCh38]
Chr20:49510734 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.2617G>T (p.Asp873Tyr) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV000764249]|not provided [RCV001545023]|not specified [RCV000499393] Chr20:50892097 [GRCh38]
Chr20:49508634 [GRCh37]
Chr20:20q13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001282531.3(ADNP):c.422_424dup (p.Ser141dup) duplication ADNP-related disorder [RCV003925441]|ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV000990315]|Inborn genetic diseases [RCV002311811]|not provided [RCV000890945]|not specified [RCV000504548] Chr20:50894289..50894290 [GRCh38]
Chr20:49510826..49510827 [GRCh37]
Chr20:20q13.13		 pathogenic|benign|likely benign
NM_001282531.3(ADNP):c.666C>T (p.His222=) single nucleotide variant Inborn genetic diseases [RCV002316429]|not provided [RCV002527184]|not specified [RCV000502137] Chr20:50894048 [GRCh38]
Chr20:49510585 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.2175del (p.Leu726fs) deletion not provided [RCV000498025] Chr20:50892539 [GRCh38]
Chr20:49509076 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.2143G>A (p.Val715Met) single nucleotide variant not specified [RCV000502928] Chr20:50892571 [GRCh38]
Chr20:49509108 [GRCh37]
Chr20:20q13.13		 uncertain significance
GRCh37/hg19 20q13.13-13.2(chr20:47627844-52045480)x1 copy number loss See cases [RCV000511555] Chr20:47627844..52045480 [GRCh37]
Chr20:20q13.13-13.2		 pathogenic
NM_001282531.3(ADNP):c.2195del (p.Lys731_Leu732insTer) deletion not provided [RCV000493907] Chr20:50892519 [GRCh38]
Chr20:49509056 [GRCh37]
Chr20:20q13.13		 pathogenic
GRCh37/hg19 20q13.13-13.2(chr20:47726521-50427649)x1 copy number loss See cases [RCV000511416] Chr20:47726521..50427649 [GRCh37]
Chr20:20q13.13-13.2		 likely pathogenic
NM_001282531.3(ADNP):c.57dup (p.Lys20fs) duplication not provided [RCV000493098] Chr20:50903939..50903940 [GRCh38]
Chr20:49520476..49520477 [GRCh37]
Chr20:20q13.13		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_001282531.3(ADNP):c.2398A>T (p.Ile800Phe) single nucleotide variant not provided [RCV003318041] Chr20:50892316 [GRCh38]
Chr20:49508853 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2683C>T (p.Pro895Ser) single nucleotide variant Inborn genetic diseases [RCV003255995] Chr20:50892031 [GRCh38]
Chr20:49508568 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2287dup (p.Ser763fs) duplication Inborn genetic diseases [RCV000624086] Chr20:50892426..50892427 [GRCh38]
Chr20:49508963..49508964 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.1108C>A (p.Leu370Ile) single nucleotide variant Inborn genetic diseases [RCV003271268]|not provided [RCV005102606] Chr20:50893606 [GRCh38]
Chr20:49510143 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2239G>T (p.Glu747Ter) single nucleotide variant not provided [RCV000579190] Chr20:50892475 [GRCh38]
Chr20:49509012 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.201G>C (p.Gln67His) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV001265428]|Inborn genetic diseases [RCV000622881] Chr20:50902017 [GRCh38]
Chr20:49518554 [GRCh37]
Chr20:20q13.13		 likely pathogenic|uncertain significance
NM_001282531.3(ADNP):c.2836A>G (p.Thr946Ala) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV005029951]|Inborn genetic diseases [RCV003239460]|not provided [RCV003738405] Chr20:50891878 [GRCh38]
Chr20:49508415 [GRCh37]
Chr20:20q13.13		 benign|likely benign|uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_001282531.3(ADNP):c.2287del (p.Ser763fs) deletion ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV001265355]|Inborn genetic diseases [RCV000622744] Chr20:50892427 [GRCh38]
Chr20:49508964 [GRCh37]
Chr20:20q13.13		 pathogenic|likely pathogenic
NM_001282531.3(ADNP):c.3248dup (p.Val1084fs) duplication ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV001265352]|not provided [RCV000658235] Chr20:50891465..50891466 [GRCh38]
Chr20:49508002..49508003 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2918_2932del (p.Glu973_Ser978delinsAla) deletion not provided [RCV000658078] Chr20:50891782..50891796 [GRCh38]
Chr20:49508319..49508333 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2116C>A (p.Leu706Ile) single nucleotide variant not provided [RCV000658916] Chr20:50892598 [GRCh38]
Chr20:49509135 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2971A>G (p.Met991Val) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV002253587]|Inborn genetic diseases [RCV002314555]|not provided [RCV000895846]|not specified [RCV001816761] Chr20:50891743 [GRCh38]
Chr20:49508280 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_001282531.3(ADNP):c.2067C>T (p.Gly689=) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV001549251]|Inborn genetic diseases [RCV002312298]|not provided [RCV001712734] Chr20:50892647 [GRCh38]
Chr20:49509184 [GRCh37]
Chr20:20q13.13		 benign
NM_001282531.3(ADNP):c.2076G>A (p.Lys692=) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV002253580]|Inborn genetic diseases [RCV002312327]|not provided [RCV001653985] Chr20:50892638 [GRCh38]
Chr20:49509175 [GRCh37]
Chr20:20q13.13		 benign
NM_001282531.3(ADNP):c.2475G>T (p.Gly825=) single nucleotide variant ADNP-related disorder [RCV003980332]|ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV002253582]|Inborn genetic diseases [RCV002312368]|not provided [RCV000948054] Chr20:50892239 [GRCh38]
Chr20:49508776 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_001282531.3(ADNP):c.483G>A (p.Glu161=) single nucleotide variant Inborn genetic diseases [RCV002316840]|not provided [RCV000922406] Chr20:50894231 [GRCh38]
Chr20:49510768 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.2463C>T (p.Gly821=) single nucleotide variant Inborn genetic diseases [RCV002316852]|not provided [RCV000925829] Chr20:50892251 [GRCh38]
Chr20:49508788 [GRCh37]
Chr20:20q13.13		 likely benign
Single allele duplication not provided [RCV000677941] Chr20:46962638..50647699 [GRCh37]
Chr20:20q13.13-13.2		 uncertain significance
GRCh37/hg19 20q13.13(chr20:49447090-49510400)x1 copy number loss not provided [RCV000684097] Chr20:49447090..49510400 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_001282531.3(ADNP):c.3040A>C (p.Lys1014Gln) single nucleotide variant not provided [RCV001814679] Chr20:50891674 [GRCh38]
Chr20:49508211 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.393G>A (p.Pro131=) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV002253586]|Inborn genetic diseases [RCV002314444]|not provided [RCV000907368] Chr20:50894321 [GRCh38]
Chr20:49510858 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_001282531.3(ADNP):c.2568C>T (p.Val856=) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV002253581]|Inborn genetic diseases [RCV002312328]|not provided [RCV001534558] Chr20:50892146 [GRCh38]
Chr20:49508683 [GRCh37]
Chr20:20q13.13		 benign
NM_001282531.3(ADNP):c.1932A>G (p.Arg644=) single nucleotide variant ADNP-related disorder [RCV004740425]|Inborn genetic diseases [RCV002312472]|not provided [RCV000904451] Chr20:50892782 [GRCh38]
Chr20:49509319 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.1133A>G (p.Tyr378Cys) single nucleotide variant Inborn genetic diseases [RCV002316030] Chr20:50893581 [GRCh38]
Chr20:49510118 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2666G>C (p.Ser889Thr) single nucleotide variant ADNP-related disorder [RCV003953269]|ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV002253585]|Inborn genetic diseases [RCV002314420]|not provided [RCV000887290] Chr20:50892048 [GRCh38]
Chr20:49508585 [GRCh37]
Chr20:20q13.13		 benign
NM_001282531.3(ADNP):c.1212G>C (p.Ser404=) single nucleotide variant ADNP-related disorder [RCV004740427]|ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV002253589]|Inborn genetic diseases [RCV002313466]|not provided [RCV000918586] Chr20:50893502 [GRCh38]
Chr20:49510039 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_001282531.3(ADNP):c.285T>C (p.Asn95=) single nucleotide variant Inborn genetic diseases [RCV002314461] Chr20:50894429 [GRCh38]
Chr20:49510966 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.724G>A (p.Glu242Lys) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV004723134]|Inborn genetic diseases [RCV002318033]|not provided [RCV005231305] Chr20:50893990 [GRCh38]
Chr20:49510527 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.2931A>G (p.Gly977=) single nucleotide variant ADNP-related disorder [RCV003918173]|ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV002253592]|Inborn genetic diseases [RCV002318624]|not provided [RCV000908789] Chr20:50891783 [GRCh38]
Chr20:49508320 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_001282531.3(ADNP):c.2782G>C (p.Asp928His) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV002253594]|Inborn genetic diseases [RCV002318785]|not provided [RCV000963395] Chr20:50891932 [GRCh38]
Chr20:49508469 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_001282531.3(ADNP):c.1752A>G (p.Gln584=) single nucleotide variant ADNP-related disorder [RCV003965486]|ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV002253590]|Inborn genetic diseases [RCV002315332]|not provided [RCV001698772] Chr20:50892962 [GRCh38]
Chr20:49509499 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_001282531.3(ADNP):c.356A>G (p.Lys119Arg) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV001265426]|Inborn genetic diseases [RCV002315418]|not provided [RCV002534573] Chr20:50894358 [GRCh38]
Chr20:49510895 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.1773A>C (p.Pro591=) single nucleotide variant Inborn genetic diseases [RCV002318050] Chr20:50892941 [GRCh38]
Chr20:49509478 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.2632A>G (p.Ser878Gly) single nucleotide variant Inborn genetic diseases [RCV002316695] Chr20:50892082 [GRCh38]
Chr20:49508619 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.775A>C (p.Asn259His) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV001007789]|Inborn genetic diseases [RCV002316870] Chr20:50893939 [GRCh38]
Chr20:49510476 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1754A>G (p.Asn585Ser) single nucleotide variant Inborn genetic diseases [RCV002316911]|not provided [RCV001561679] Chr20:50892960 [GRCh38]
Chr20:49509497 [GRCh37]
Chr20:20q13.13		 benign|likely benign|uncertain significance
NM_001282531.3(ADNP):c.344A>G (p.Asn115Ser) single nucleotide variant Inborn genetic diseases [RCV004026890]|not provided [RCV002534933] Chr20:50894370 [GRCh38]
Chr20:49510907 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.627C>A (p.Val209=) single nucleotide variant Inborn genetic diseases [RCV002316717]|not provided [RCV003736897] Chr20:50894087 [GRCh38]
Chr20:49510624 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.1142G>T (p.Gly381Val) single nucleotide variant Inborn genetic diseases [RCV002315329] Chr20:50893572 [GRCh38]
Chr20:49510109 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1597A>G (p.Met533Val) single nucleotide variant Inborn genetic diseases [RCV002318814]|not provided [RCV005092094] Chr20:50893117 [GRCh38]
Chr20:49509654 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.1275T>C (p.Ser425=) single nucleotide variant Inborn genetic diseases [RCV002317425]|not provided [RCV000880484] Chr20:50893439 [GRCh38]
Chr20:49509976 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.833AGA[1] (p.Lys279del) microsatellite ADNP-related disorder [RCV003965494]|ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV002253597]|Inborn genetic diseases [RCV002317454]|not provided [RCV001683649] Chr20:50893876..50893878 [GRCh38]
Chr20:49510413..49510415 [GRCh37]
Chr20:20q13.13		 benign|likely benign|uncertain significance
NM_001282531.3(ADNP):c.1014C>G (p.Gly338=) single nucleotide variant Inborn genetic diseases [RCV002316762]|not provided [RCV005092095] Chr20:50893700 [GRCh38]
Chr20:49510237 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.1123G>A (p.Gly375Arg) single nucleotide variant Intellectual disability [RCV001251873]|not provided [RCV003708585] Chr20:50893591 [GRCh38]
Chr20:49510128 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_001282531.3(ADNP):c.1310dup (p.Gly438fs) duplication ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV001724790] Chr20:50893403..50893404 [GRCh38]
Chr20:49509940..49509941 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_001282531.3(ADNP):c.1936_1937del (p.Arg646fs) microsatellite ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV000760195] Chr20:50892777..50892778 [GRCh38]
Chr20:49509314..49509315 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.733G>T (p.Glu245Ter) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV000760200] Chr20:50893981 [GRCh38]
Chr20:49510518 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.177_178dup (p.Asp60fs) duplication ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV000760258] Chr20:50902039..50902040 [GRCh38]
Chr20:49518576..49518577 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.1896A>G (p.Lys632=) single nucleotide variant not provided [RCV000762350] Chr20:50892818 [GRCh38]
Chr20:49509355 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.839G>A (p.Ser280Asn) single nucleotide variant Inborn genetic diseases [RCV002533902]|not provided [RCV000762351] Chr20:50893875 [GRCh38]
Chr20:49510412 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.2213dup (p.Pro739fs) duplication ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV003315158] Chr20:50892500..50892501 [GRCh38]
Chr20:49509037..49509038 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_001282531.3(ADNP):c.*50A>C single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV001549250]|not provided [RCV004717836] Chr20:50891355 [GRCh38]
Chr20:49507892 [GRCh37]
Chr20:20q13.13		 benign
NM_001282531.3(ADNP):c.-5-1G>C single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV000990317] Chr20:50904002 [GRCh38]
Chr20:49520539 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.108+280A>C single nucleotide variant not provided [RCV001667570] Chr20:50903609 [GRCh38]
Chr20:49520146 [GRCh37]
Chr20:20q13.13		 benign
NM_001282531.3(ADNP):c.3213_3216del (p.Ser1071fs) deletion ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV000856595]|not provided [RCV003736919] Chr20:50891498..50891501 [GRCh38]
Chr20:49508035..49508038 [GRCh37]
Chr20:20q13.13		 pathogenic|likely benign|uncertain significance
NM_001282531.3(ADNP):c.723C>T (p.Ile241=) single nucleotide variant not provided [RCV000919822] Chr20:50893991 [GRCh38]
Chr20:49510528 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.2554A>G (p.Lys852Glu) single nucleotide variant Inborn genetic diseases [RCV002434176]|not provided [RCV000883396] Chr20:50892160 [GRCh38]
Chr20:49508697 [GRCh37]
Chr20:20q13.13		 benign|likely benign|uncertain significance
NM_001282531.3(ADNP):c.3147T>C (p.Asn1049=) single nucleotide variant Inborn genetic diseases [RCV002320099]|not provided [RCV000926404] Chr20:50891567 [GRCh38]
Chr20:49508104 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.1392C>T (p.His464=) single nucleotide variant Inborn genetic diseases [RCV002390886]|not provided [RCV000899938] Chr20:50893322 [GRCh38]
Chr20:49509859 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.2157C>T (p.Tyr719=) single nucleotide variant not provided [RCV000983108] Chr20:50892557 [GRCh38]
Chr20:49509094 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.2310T>C (p.Phe770=) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV002253692]|Inborn genetic diseases [RCV002427292]|not provided [RCV000924240] Chr20:50892404 [GRCh38]
Chr20:49508941 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_001282531.3(ADNP):c.511A>C (p.Thr171Pro) single nucleotide variant not provided [RCV003312539] Chr20:50894203 [GRCh38]
Chr20:49510740 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1428A>G (p.Ala476=) single nucleotide variant ADNP-related disorder [RCV003923030]|not provided [RCV000903825] Chr20:50893286 [GRCh38]
Chr20:49509823 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.142T>C (p.Leu48=) single nucleotide variant not provided [RCV000908011] Chr20:50902076 [GRCh38]
Chr20:49518613 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.855A>G (p.Pro285=) single nucleotide variant not provided [RCV000895767] Chr20:50893859 [GRCh38]
Chr20:49510396 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.549C>T (p.His183=) single nucleotide variant not provided [RCV000942939] Chr20:50894165 [GRCh38]
Chr20:49510702 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.2815A>C (p.Ile939Leu) single nucleotide variant ADNP-related disorder [RCV004740493]|ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV002253674]|Inborn genetic diseases [RCV002434190]|not provided [RCV000895825] Chr20:50891899 [GRCh38]
Chr20:49508436 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_001282531.3(ADNP):c.2574T>C (p.Ala858=) single nucleotide variant not provided [RCV000903141] Chr20:50892140 [GRCh38]
Chr20:49508677 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.1683C>T (p.Asn561=) single nucleotide variant not provided [RCV000939272] Chr20:50893031 [GRCh38]
Chr20:49509568 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.2265C>T (p.Asp755=) single nucleotide variant not provided [RCV000943170] Chr20:50892449 [GRCh38]
Chr20:49508986 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.1062C>T (p.Asn354=) single nucleotide variant not provided [RCV000917683] Chr20:50893652 [GRCh38]
Chr20:49510189 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.2943G>T (p.Val981=) single nucleotide variant ADNP-related disorder [RCV003955878]|ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV002253666]|Inborn genetic diseases [RCV002434178]|not provided [RCV000884649]|not specified [RCV001817091] Chr20:50891771 [GRCh38]
Chr20:49508308 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_001282531.3(ADNP):c.3185T>C (p.Ile1062Thr) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV002253667]|Inborn genetic diseases [RCV002539347]|not provided [RCV000885928] Chr20:50891529 [GRCh38]
Chr20:49508066 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_001282531.3(ADNP):c.2749C>T (p.Pro917Ser) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV002253675]|Inborn genetic diseases [RCV002539455]|not provided [RCV000897315] Chr20:50891965 [GRCh38]
Chr20:49508502 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_001282531.3(ADNP):c.2352A>G (p.Arg784=) single nucleotide variant not provided [RCV000916931] Chr20:50892362 [GRCh38]
Chr20:49508899 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.1635T>C (p.Asp545=) single nucleotide variant not provided [RCV000981182] Chr20:50893079 [GRCh38]
Chr20:49509616 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.957C>G (p.Val319=) single nucleotide variant not provided [RCV000918805] Chr20:50893757 [GRCh38]
Chr20:49510294 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.2157_2159del (p.Tyr719_Glu720delinsTer) deletion ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV000990314] Chr20:50892555..50892557 [GRCh38]
Chr20:49509092..49509094 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.1239_1240del (p.Gln414fs) microsatellite ADNP-related disorder [RCV003393920]|Intellectual disability [RCV001249499] Chr20:50893474..50893475 [GRCh38]
Chr20:49510011..49510012 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.67_70del (p.Leu23fs) deletion Intellectual disability [RCV001249498] Chr20:50903927..50903930 [GRCh38]
Chr20:49520464..49520467 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.2971_2979del (p.Met991_Pro993del) deletion not provided [RCV001241720] Chr20:50891735..50891743 [GRCh38]
Chr20:49508272..49508280 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.3304G>A (p.Ala1102Thr) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV001198550] Chr20:50891410 [GRCh38]
Chr20:49507947 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2591A>G (p.Lys864Arg) single nucleotide variant not provided [RCV004784805] Chr20:50892123 [GRCh38]
Chr20:49508660 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2573C>G (p.Ala858Gly) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV001197528] Chr20:50892141 [GRCh38]
Chr20:49508678 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.2474G>A (p.Gly825Glu) single nucleotide variant Intellectual disability [RCV001249497] Chr20:50892240 [GRCh38]
Chr20:49508777 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.14del (p.Pro5fs) deletion not provided [RCV003126944] Chr20:50903983 [GRCh38]
Chr20:49520520 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.2561C>T (p.Ser854Phe) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV003136107]|Inborn genetic diseases [RCV002458532]|not provided [RCV001566175] Chr20:50892153 [GRCh38]
Chr20:49508690 [GRCh37]
Chr20:20q13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001282531.3(ADNP):c.2994C>T (p.Asp998=) single nucleotide variant Inborn genetic diseases [RCV002440787]|not provided [RCV001547881] Chr20:50891720 [GRCh38]
Chr20:49508257 [GRCh37]
Chr20:20q13.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001282531.3(ADNP):c.3233ACA[1] (p.Asn1079del) microsatellite not provided [RCV004812856] Chr20:50891476..50891478 [GRCh38]
Chr20:49508013..49508015 [GRCh37]
Chr20:20q13.13		 uncertain significance
NC_000020.10:g.(?_49507942)_(49576762_?)del deletion Congenital disorder of glycosylation type 1E [RCV003107766] Chr20:49507942..49576762 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.1248G>C (p.Gln416His) single nucleotide variant not specified [RCV003317914] Chr20:50893466 [GRCh38]
Chr20:49510003 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1807_1808dup (p.Pro604fs) microsatellite not provided [RCV001543512] Chr20:50892905..50892906 [GRCh38]
Chr20:49509442..49509443 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.1127G>A (p.Arg376Lys) single nucleotide variant not provided [RCV001555903] Chr20:50893587 [GRCh38]
Chr20:49510124 [GRCh37]
Chr20:20q13.13		 likely benign|conflicting interpretations of pathogenicity
NM_001282531.3(ADNP):c.1163C>T (p.Ala388Val) single nucleotide variant ADNP-related disorder [RCV003948651]|Inborn genetic diseases [RCV002324162]|not provided [RCV001651660] Chr20:50893551 [GRCh38]
Chr20:49510088 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_001282531.3(ADNP):c.1768C>G (p.Pro590Ala) single nucleotide variant not provided [RCV002284806] Chr20:50892946 [GRCh38]
Chr20:49509483 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2570A>G (p.Asn857Ser) single nucleotide variant not provided [RCV001581592] Chr20:50892144 [GRCh38]
Chr20:49508681 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.191C>T (p.Thr64Met) single nucleotide variant ADNP-related disorder [RCV003921218]|Inborn genetic diseases [RCV002414264]|not provided [RCV001557910] Chr20:50902027 [GRCh38]
Chr20:49518564 [GRCh37]
Chr20:20q13.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001282531.3(ADNP):c.1234C>G (p.Leu412Val) single nucleotide variant not provided [RCV001552477] Chr20:50893480 [GRCh38]
Chr20:49510017 [GRCh37]
Chr20:20q13.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001282531.3(ADNP):c.202-303G>A single nucleotide variant not provided [RCV001686662] Chr20:50894815 [GRCh38]
Chr20:49511352 [GRCh37]
Chr20:20q13.13		 benign
NM_001282531.3(ADNP):c.1122C>T (p.Asn374=) single nucleotide variant not provided [RCV001678874] Chr20:50893592 [GRCh38]
Chr20:49510129 [GRCh37]
Chr20:20q13.13		 benign
NM_001282531.3(ADNP):c.2406C>A (p.Ser802=) single nucleotide variant ADNP-related disorder [RCV004740488]|not provided [RCV000885936] Chr20:50892308 [GRCh38]
Chr20:49508845 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.192G>A (p.Thr64=) single nucleotide variant not provided [RCV000917310] Chr20:50902026 [GRCh38]
Chr20:49518563 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.2856A>C (p.Ala952=) single nucleotide variant not provided [RCV000972139] Chr20:50891858 [GRCh38]
Chr20:49508395 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.1584C>T (p.Ala528=) single nucleotide variant not provided [RCV000928647] Chr20:50893130 [GRCh38]
Chr20:49509667 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.402C>T (p.Ser134=) single nucleotide variant Inborn genetic diseases [RCV002354743]|not provided [RCV000910806] Chr20:50894312 [GRCh38]
Chr20:49510849 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.2808C>T (p.Tyr936=) single nucleotide variant not provided [RCV000921864] Chr20:50891906 [GRCh38]
Chr20:49508443 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.609A>G (p.Lys203=) single nucleotide variant not provided [RCV000940553] Chr20:50894105 [GRCh38]
Chr20:49510642 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.2715C>T (p.Asn905=) single nucleotide variant not provided [RCV000886460] Chr20:50891999 [GRCh38]
Chr20:49508536 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.1132dup (p.Tyr378fs) duplication not provided [RCV001093366] Chr20:50893581..50893582 [GRCh38]
Chr20:49510118..49510119 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.1075A>G (p.Ile359Val) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV002253673]|Inborn genetic diseases [RCV002416102]|not provided [RCV000891257] Chr20:50893639 [GRCh38]
Chr20:49510176 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_001282531.3(ADNP):c.1721C>T (p.Ala574Val) single nucleotide variant not provided [RCV000997791] Chr20:50892993 [GRCh38]
Chr20:49509530 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1893A>G (p.Leu631=) single nucleotide variant not provided [RCV000913607] Chr20:50892821 [GRCh38]
Chr20:49509358 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.2317A>G (p.Lys773Glu) single nucleotide variant ADNP-related disorder [RCV004740518]|ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV002253723]|not provided [RCV000958074] Chr20:50892397 [GRCh38]
Chr20:49508934 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_001282531.3(ADNP):c.2157del (p.Thr718_Tyr719insTer) deletion ADNP-related disorder [RCV004776444]|ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV000985163]|not provided [RCV004720026] Chr20:50892557 [GRCh38]
Chr20:49509094 [GRCh37]
Chr20:20q13.13		 pathogenic|likely pathogenic
NM_001282531.3(ADNP):c.1781A>G (p.Gln594Arg) single nucleotide variant not provided [RCV000911596] Chr20:50892933 [GRCh38]
Chr20:49509470 [GRCh37]
Chr20:20q13.13		 benign
NM_001282531.3(ADNP):c.2535A>C (p.Leu845=) single nucleotide variant not provided [RCV000934293] Chr20:50892179 [GRCh38]
Chr20:49508716 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.-5-232C>T single nucleotide variant not provided [RCV001572145] Chr20:50904233 [GRCh38]
Chr20:49520770 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.1505C>T (p.Thr502Ile) single nucleotide variant not provided [RCV003231935] Chr20:50893209 [GRCh38]
Chr20:49509746 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2189G>A (p.Arg730Gln) single nucleotide variant ADNP-related disorder [RCV003941114]|ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV003136128]|Inborn genetic diseases [RCV002543902]|not provided [RCV001732533] Chr20:50892525 [GRCh38]
Chr20:49509062 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.3236A>G (p.Asn1079Ser) single nucleotide variant Inborn genetic diseases [RCV002324161]|not provided [RCV001637466] Chr20:50891478 [GRCh38]
Chr20:49508015 [GRCh37]
Chr20:20q13.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001282531.3(ADNP):c.1747G>T (p.Ala583Ser) single nucleotide variant not provided [RCV001558949] Chr20:50892967 [GRCh38]
Chr20:49509504 [GRCh37]
Chr20:20q13.13		 likely benign|conflicting interpretations of pathogenicity
NM_001282531.3(ADNP):c.1490A>G (p.Tyr497Cys) single nucleotide variant not provided [RCV003234360] Chr20:50893224 [GRCh38]
Chr20:49509761 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2858C>T (p.Ser953Phe) single nucleotide variant See cases [RCV002253078] Chr20:50891856 [GRCh38]
Chr20:49508393 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2725G>A (p.Glu909Lys) single nucleotide variant ADNP-related disorder [RCV003941000]|not provided [RCV001555739] Chr20:50891989 [GRCh38]
Chr20:49508526 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_001282531.3(ADNP):c.2255T>C (p.Leu752Ser) single nucleotide variant not provided [RCV003327864] Chr20:50892459 [GRCh38]
Chr20:49508996 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2483dup (p.Met828fs) duplication ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV002471588] Chr20:50892230..50892231 [GRCh38]
Chr20:49508767..49508768 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.3110A>C (p.Glu1037Ala) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV002470236] Chr20:50891604 [GRCh38]
Chr20:49508141 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2000G>T (p.Cys667Phe) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV002471821] Chr20:50892714 [GRCh38]
Chr20:49509251 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_001282531.3(ADNP):c.2077A>G (p.Thr693Ala) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV002470279] Chr20:50892637 [GRCh38]
Chr20:49509174 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.916C>T (p.Arg306Ter) single nucleotide variant not provided [RCV001008686] Chr20:50893798 [GRCh38]
Chr20:49510335 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.1265dup (p.Gln423fs) duplication ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV001028054] Chr20:50893448..50893449 [GRCh38]
Chr20:49509985..49509986 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_001282531.3(ADNP):c.56_57del (p.Val19fs) microsatellite not provided [RCV001008061] Chr20:50903940..50903941 [GRCh38]
Chr20:49520477..49520478 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.208C>T (p.Arg70Trp) single nucleotide variant not provided [RCV001531967] Chr20:50894506 [GRCh38]
Chr20:49511043 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.801C>G (p.Pro267=) single nucleotide variant not provided [RCV001720456] Chr20:50893913 [GRCh38]
Chr20:49510450 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_001282531.3(ADNP):c.909G>A (p.Met303Ile) single nucleotide variant ADNP-related disorder [RCV003948666]|Inborn genetic diseases [RCV002370261]|not provided [RCV001675275] Chr20:50893805 [GRCh38]
Chr20:49510342 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_001282531.3(ADNP):c.535A>G (p.Ile179Val) single nucleotide variant Inborn genetic diseases [RCV002343786]|not provided [RCV001619725] Chr20:50894179 [GRCh38]
Chr20:49510716 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_001282531.3(ADNP):c.108+124C>T single nucleotide variant not provided [RCV001660738] Chr20:50903765 [GRCh38]
Chr20:49520302 [GRCh37]
Chr20:20q13.13		 benign
NM_001282531.3(ADNP):c.3058C>G (p.Gln1020Glu) single nucleotide variant ADNP-related disorder [RCV003931279]|ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV002503147]|Inborn genetic diseases [RCV002539683]|not provided [RCV001688144] Chr20:50891656 [GRCh38]
Chr20:49508193 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_001282531.3(ADNP):c.712C>T (p.Gln238Ter) single nucleotide variant not provided [RCV001093367] Chr20:50894002 [GRCh38]
Chr20:49510539 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.108+233G>A single nucleotide variant not provided [RCV001669465] Chr20:50903656 [GRCh38]
Chr20:49520193 [GRCh37]
Chr20:20q13.13		 benign
NM_001282531.3(ADNP):c.3095C>G (p.Ser1032Cys) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV003136126]|Inborn genetic diseases [RCV002538652]|not provided [RCV001708709] Chr20:50891619 [GRCh38]
Chr20:49508156 [GRCh37]
Chr20:20q13.13		 benign|likely benign|uncertain significance
NM_001282531.3(ADNP):c.736C>T (p.Arg246Cys) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV001650489] Chr20:50893978 [GRCh38]
Chr20:49510515 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.64dup (p.Ile22fs) duplication ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV001253010]|See cases [RCV001420325]|not provided [RCV002276658] Chr20:50903932..50903933 [GRCh38]
Chr20:49520469..49520470 [GRCh37]
Chr20:20q13.13		 pathogenic|likely pathogenic
NM_001282531.3(ADNP):c.1184dup (p.Ser396fs) duplication Intellectual disability [RCV001249501] Chr20:50893529..50893530 [GRCh38]
Chr20:49510066..49510067 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.283A>G (p.Asn95Asp) single nucleotide variant not provided [RCV001200153] Chr20:50894431 [GRCh38]
Chr20:49510968 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2150G>A (p.Arg717His) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV003142195]|not provided [RCV001231654] Chr20:50892564 [GRCh38]
Chr20:49509101 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.82_85del (p.Leu28fs) deletion ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV001249371] Chr20:50903912..50903915 [GRCh38]
Chr20:49520449..49520452 [GRCh37]
Chr20:20q13.13		 not provided
NM_001282531.3(ADNP):c.108+6T>C single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV001007877] Chr20:50903883 [GRCh38]
Chr20:49520420 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.583C>T (p.Pro195Ser) single nucleotide variant Microcephaly [RCV001252872] Chr20:50894131 [GRCh38]
Chr20:49510668 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1592T>C (p.Met531Thr) single nucleotide variant Intellectual disability [RCV001251874] Chr20:50893122 [GRCh38]
Chr20:49509659 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.280C>T (p.Arg94Cys) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV001251875] Chr20:50894434 [GRCh38]
Chr20:49510971 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.709del (p.Val237fs) deletion ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV001253323] Chr20:50894005 [GRCh38]
Chr20:49510542 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_001282531.3(ADNP):c.1931G>A (p.Arg644Gln) single nucleotide variant Microcephaly [RCV001252728] Chr20:50892783 [GRCh38]
Chr20:49509320 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2572G>A (p.Ala858Thr) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV001253280] Chr20:50892142 [GRCh38]
Chr20:49508679 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.886C>T (p.Arg296Trp) single nucleotide variant Intellectual disability [RCV001251872] Chr20:50893828 [GRCh38]
Chr20:49510365 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.331del (p.Tyr111fs) deletion Inborn genetic diseases [RCV001266598] Chr20:50894383 [GRCh38]
Chr20:49510920 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.940_941del (p.Leu314fs) deletion ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV001265354] Chr20:50893773..50893774 [GRCh38]
Chr20:49510310..49510311 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.484C>T (p.Gln162Ter) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV001265358]|not provided [RCV004719122] Chr20:50894230 [GRCh38]
Chr20:49510767 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.2129dup (p.Ser711fs) duplication ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV001265361] Chr20:50892584..50892585 [GRCh38]
Chr20:49509121..49509122 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_001282531.3(ADNP):c.1620_1630dup (p.Thr544fs) duplication Inborn genetic diseases [RCV001267527] Chr20:50893083..50893084 [GRCh38]
Chr20:49509620..49509621 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.2498_2499del (p.Lys833fs) deletion Inborn genetic diseases [RCV001267146] Chr20:50892215..50892216 [GRCh38]
Chr20:49508752..49508753 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.2213C>A (p.Ser738Ter) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV001265353]|not provided [RCV001664791] Chr20:50892501 [GRCh38]
Chr20:49509038 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.1046_1047del (p.Leu349fs) deletion ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV001265356] Chr20:50893667..50893668 [GRCh38]
Chr20:49510204..49510205 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_001282531.3(ADNP):c.2865_2868del (p.Ser955fs) deletion ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV001265362]|Inborn genetic diseases [RCV002436984]|not provided [RCV002225820] Chr20:50891846..50891849 [GRCh38]
Chr20:49508383..49508386 [GRCh37]
Chr20:20q13.13		 pathogenic|likely pathogenic
NM_001282531.3(ADNP):c.1033C>T (p.Gln345Ter) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV001265357] Chr20:50893681 [GRCh38]
Chr20:49510218 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.2187del (p.Lys729fs) deletion not provided [RCV001268244] Chr20:50892527 [GRCh38]
Chr20:49509064 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.2946dup (p.Asp983fs) duplication not provided [RCV001268286] Chr20:50891767..50891768 [GRCh38]
Chr20:49508304..49508305 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_001282531.3(ADNP):c.2327dup (p.Asn776fs) duplication not provided [RCV001268434] Chr20:50892386..50892387 [GRCh38]
Chr20:49508923..49508924 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.642_651del (p.Asn214fs) deletion ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV001310249] Chr20:50894063..50894072 [GRCh38]
Chr20:49510600..49510609 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.1666C>T (p.Gln556Ter) single nucleotide variant not provided [RCV001268768] Chr20:50893048 [GRCh38]
Chr20:49509585 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.1652_1653del (p.Asp551fs) deletion not provided [RCV001268852] Chr20:50893061..50893062 [GRCh38]
Chr20:49509598..49509599 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.321del (p.Asn108fs) deletion ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV001807964] Chr20:50894393 [GRCh38]
Chr20:49510930 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_001282531.3(ADNP):c.2938C>T (p.Gln980Ter) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV001262325] Chr20:50891776 [GRCh38]
Chr20:49508313 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_001282531.3(ADNP):c.3056T>C (p.Met1019Thr) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV001328891] Chr20:50891658 [GRCh38]
Chr20:49508195 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.481G>A (p.Glu161Lys) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV001328892] Chr20:50894233 [GRCh38]
Chr20:49510770 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1180C>G (p.Leu394Val) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV001332063] Chr20:50893534 [GRCh38]
Chr20:49510071 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.638C>T (p.Ser213Leu) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV001328893]|not provided [RCV002546284] Chr20:50894076 [GRCh38]
Chr20:49510613 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.872C>G (p.Ala291Gly) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV001333855] Chr20:50893842 [GRCh38]
Chr20:49510379 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.3069_3072del (p.Arg1023fs) microsatellite ADNP-related disorder [RCV003416144]|not provided [RCV001269687] Chr20:50891642..50891645 [GRCh38]
Chr20:49508179..49508182 [GRCh37]
Chr20:20q13.13		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001282531.3(ADNP):c.2712dup (p.Asn905Ter) duplication ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV004796634]|See cases [RCV001420309] Chr20:50892001..50892002 [GRCh38]
Chr20:49508538..49508539 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_001282531.3(ADNP):c.2059T>C (p.Cys687Arg) single nucleotide variant not provided [RCV001360977] Chr20:50892655 [GRCh38]
Chr20:49509192 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.391C>G (p.Pro131Ala) single nucleotide variant Global developmental delay [RCV001527634] Chr20:50894323 [GRCh38]
Chr20:49510860 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.898dup (p.Ser300fs) duplication ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV001527604] Chr20:50893815..50893816 [GRCh38]
Chr20:49510352..49510353 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.2424_2427del (p.Lys809fs) deletion ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV002249233] Chr20:50892287..50892290 [GRCh38]
Chr20:49508824..49508827 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.298G>T (p.Asp100Tyr) single nucleotide variant not provided [RCV001732575] Chr20:50894416 [GRCh38]
Chr20:49510953 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.655_656del (p.Glu218_Ser219insTer) microsatellite ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV001730020]|not provided [RCV004728785] Chr20:50894058..50894059 [GRCh38]
Chr20:49510595..49510596 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.662T>G (p.Ile221Ser) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV002227699]|Inborn genetic diseases [RCV004617013]|not provided [RCV003101299] Chr20:50894052 [GRCh38]
Chr20:49510589 [GRCh37]
Chr20:20q13.13		 likely pathogenic|likely benign|uncertain significance
NM_001282531.3(ADNP):c.921C>G (p.Leu307=) single nucleotide variant ADNP-related disorder [RCV003910979]|not provided [RCV001727200] Chr20:50893793 [GRCh38]
Chr20:49510330 [GRCh37]
Chr20:20q13.13		 likely benign|conflicting interpretations of pathogenicity
NM_001282531.3(ADNP):c.232G>A (p.Ala78Thr) single nucleotide variant not specified [RCV002246945] Chr20:50894482 [GRCh38]
Chr20:49511019 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.95_96insT (p.Lys32fs) insertion ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV002245270] Chr20:50903901..50903902 [GRCh38]
Chr20:49520438..49520439 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.1009G>A (p.Val337Ile) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV002272827] Chr20:50893705 [GRCh38]
Chr20:49510242 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1540T>G (p.Cys514Gly) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV001771789] Chr20:50893174 [GRCh38]
Chr20:49509711 [GRCh37]
Chr20:20q13.13		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001282531.3(ADNP):c.1247A>G (p.Gln416Arg) single nucleotide variant not provided [RCV002280389] Chr20:50893467 [GRCh38]
Chr20:49510004 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2968G>A (p.Glu990Lys) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV005032200]|See cases [RCV002253187]|not provided [RCV003094135] Chr20:50891746 [GRCh38]
Chr20:49508283 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.3302A>G (p.Gln1101Arg) single nucleotide variant not provided [RCV001763761] Chr20:50891412 [GRCh38]
Chr20:49507949 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.3097T>C (p.Tyr1033His) single nucleotide variant not provided [RCV001767111] Chr20:50891617 [GRCh38]
Chr20:49508154 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2716_2718del (p.Asp906del) deletion not provided [RCV001771064] Chr20:50891996..50891998 [GRCh38]
Chr20:49508533..49508535 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2083A>G (p.Asn695Asp) single nucleotide variant not provided [RCV001765108] Chr20:50892631 [GRCh38]
Chr20:49509168 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2749C>G (p.Pro917Ala) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV001733674] Chr20:50891965 [GRCh38]
Chr20:49508502 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.121T>C (p.Phe41Leu) single nucleotide variant not provided [RCV001767553] Chr20:50902097 [GRCh38]
Chr20:49518634 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.499T>C (p.Cys167Arg) single nucleotide variant not provided [RCV001764951] Chr20:50894215 [GRCh38]
Chr20:49510752 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2669G>A (p.Gly890Asp) single nucleotide variant not provided [RCV001765065] Chr20:50892045 [GRCh38]
Chr20:49508582 [GRCh37]
Chr20:20q13.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_001282531.3(ADNP):c.1704A>G (p.Thr568=) single nucleotide variant not provided [RCV001794746] Chr20:50893010 [GRCh38]
Chr20:49509547 [GRCh37]
Chr20:20q13.13		 likely benign|conflicting interpretations of pathogenicity
NM_001282531.3(ADNP):c.953G>T (p.Gly318Val) single nucleotide variant not provided [RCV001768455] Chr20:50893761 [GRCh38]
Chr20:49510298 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2189G>C (p.Arg730Pro) single nucleotide variant not provided [RCV001756846] Chr20:50892525 [GRCh38]
Chr20:49509062 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2012A>G (p.Tyr671Cys) single nucleotide variant not provided [RCV001758453] Chr20:50892702 [GRCh38]
Chr20:49509239 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1345T>C (p.Cys449Arg) single nucleotide variant not provided [RCV001758846] Chr20:50893369 [GRCh38]
Chr20:49509906 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2056C>G (p.His686Asp) single nucleotide variant Inborn genetic diseases [RCV004980632]|not provided [RCV001758264] Chr20:50892658 [GRCh38]
Chr20:49509195 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2849A>G (p.His950Arg) single nucleotide variant not provided [RCV005095248]|not specified [RCV001819305] Chr20:50891865 [GRCh38]
Chr20:49508402 [GRCh37]
Chr20:20q13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001282531.3(ADNP):c.3092G>A (p.Ser1031Asn) single nucleotide variant Inborn genetic diseases [RCV002542567]|not provided [RCV003708615]|not specified [RCV001819435] Chr20:50891622 [GRCh38]
Chr20:49508159 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.2600A>G (p.Asn867Ser) single nucleotide variant Inborn genetic diseases [RCV002425089]|not provided [RCV002542600]|not specified [RCV001820298] Chr20:50892114 [GRCh38]
Chr20:49508651 [GRCh37]
Chr20:20q13.13		 benign|likely benign|uncertain significance
NM_001282531.3(ADNP):c.782T>C (p.Val261Ala) single nucleotide variant not provided [RCV005095267]|not specified [RCV001820673] Chr20:50893932 [GRCh38]
Chr20:49510469 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.2466G>A (p.Val822=) single nucleotide variant not specified [RCV001817188] Chr20:50892248 [GRCh38]
Chr20:49508785 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.197A>G (p.Asn66Ser) single nucleotide variant not specified [RCV001817461] Chr20:50902021 [GRCh38]
Chr20:49518558 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.650A>G (p.Glu217Gly) single nucleotide variant not provided [RCV001806970] Chr20:50894064 [GRCh38]
Chr20:49510601 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.69dup (p.Ser24Ter) duplication not provided [RCV001822110] Chr20:50903927..50903928 [GRCh38]
Chr20:49520464..49520465 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.507G>C (p.Lys169Asn) single nucleotide variant not provided [RCV004798520] Chr20:50894207 [GRCh38]
Chr20:49510744 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2454C>G (p.Tyr818Ter) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV001814826] Chr20:50892260 [GRCh38]
Chr20:49508797 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.1847A>G (p.Lys616Arg) single nucleotide variant not provided [RCV001837699] Chr20:50892867 [GRCh38]
Chr20:49509404 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.2923G>T (p.Gly975Trp) single nucleotide variant Inborn genetic diseases [RCV002440915]|not provided [RCV002039788] Chr20:50891791 [GRCh38]
Chr20:49508328 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2387G>A (p.Trp796Ter) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV001823314] Chr20:50892327 [GRCh38]
Chr20:49508864 [GRCh37]
Chr20:20q13.13		 pathogenic
NC_000020.10:g.(?_49354394)_(49626875_?)del deletion not provided [RCV001946891] Chr20:49354394..49626875 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.3019A>G (p.Arg1007Gly) single nucleotide variant not provided [RCV001917743] Chr20:50891695 [GRCh38]
Chr20:49508232 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.3293G>A (p.Ser1098Asn) single nucleotide variant not provided [RCV001996666] Chr20:50891421 [GRCh38]
Chr20:49507958 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.-3A>G single nucleotide variant not provided [RCV002210976] Chr20:50903999 [GRCh38]
Chr20:49520536 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1595G>A (p.Arg532Gln) single nucleotide variant not provided [RCV002226091] Chr20:50893119 [GRCh38]
Chr20:49509656 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.2978C>G (p.Pro993Arg) single nucleotide variant not provided [RCV003094046]|not specified [RCV002246944] Chr20:50891736 [GRCh38]
Chr20:49508273 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.2495_2499del (p.Asn832fs) deletion ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV002077363]|not provided [RCV002275293] Chr20:50892215..50892219 [GRCh38]
Chr20:49508752..49508756 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.920T>A (p.Leu307His) single nucleotide variant not provided [RCV002214231] Chr20:50893794 [GRCh38]
Chr20:49510331 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2167del (p.Glu723fs) deletion ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV002077361] Chr20:50892547 [GRCh38]
Chr20:49509084 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.2163_2164dup (p.Met722fs) duplication ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV002227656] Chr20:50892549..50892550 [GRCh38]
Chr20:49509086..49509087 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_001282531.3(ADNP):c.2278G>T (p.Glu760Ter) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV002251122] Chr20:50892436 [GRCh38]
Chr20:49508973 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_001282531.3(ADNP):c.1485T>C (p.Asn495=) single nucleotide variant not provided [RCV002098980] Chr20:50893229 [GRCh38]
Chr20:49509766 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.791G>A (p.Arg264Gln) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV004785190] Chr20:50893923 [GRCh38]
Chr20:49510460 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.907A>G (p.Met303Val) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV003140253]|not provided [RCV003123244] Chr20:50893807 [GRCh38]
Chr20:49510344 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1233C>G (p.Ser411=) single nucleotide variant not provided [RCV003121727] Chr20:50893481 [GRCh38]
Chr20:49510018 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2522A>G (p.Asp841Gly) single nucleotide variant not provided [RCV004779038] Chr20:50892192 [GRCh38]
Chr20:49508729 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1786A>C (p.Lys596Gln) single nucleotide variant not provided [RCV004778163] Chr20:50892928 [GRCh38]
Chr20:49509465 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1191dup (p.Asn398Ter) duplication ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV003149158] Chr20:50893522..50893523 [GRCh38]
Chr20:49510059..49510060 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.2155del (p.Tyr719fs) deletion ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV002271999] Chr20:50892559 [GRCh38]
Chr20:49509096 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.2089dup (p.Gln697fs) duplication ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV002255777] Chr20:50892624..50892625 [GRCh38]
Chr20:49509161..49509162 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_001282531.3(ADNP):c.731A>G (p.His244Arg) single nucleotide variant not provided [RCV003156638] Chr20:50893983 [GRCh38]
Chr20:49510520 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.14C>A (p.Pro5His) single nucleotide variant not provided [RCV002275432] Chr20:50903983 [GRCh38]
Chr20:49520520 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1084C>G (p.Gln362Glu) single nucleotide variant Seizure [RCV002275902] Chr20:50893630 [GRCh38]
Chr20:49510167 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.124G>T (p.Glu42Ter) single nucleotide variant Neurodevelopmental delay [RCV002274305] Chr20:50902094 [GRCh38]
Chr20:49518631 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_001282531.3(ADNP):c.2330_2333del (p.Lys777fs) microsatellite ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV002290101] Chr20:50892381..50892384 [GRCh38]
Chr20:49508918..49508921 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_001282531.3(ADNP):c.83dup (p.Leu28fs) duplication not provided [RCV002293936] Chr20:50903913..50903914 [GRCh38]
Chr20:49520450..49520451 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.2292T>G (p.Tyr764Ter) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV002289213] Chr20:50892422 [GRCh38]
Chr20:49508959 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.2220CTT[1] (p.Phe742del) microsatellite ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV003228062]|Inborn genetic diseases [RCV003355843]|not provided [RCV002276431] Chr20:50892489..50892491 [GRCh38]
Chr20:49509026..49509028 [GRCh37]
Chr20:20q13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001282531.3(ADNP):c.3045_3047del (p.Lys1016del) deletion ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV002266890]|not provided [RCV003728058] Chr20:50891667..50891669 [GRCh38]
Chr20:49508204..49508206 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.2132G>T (p.Ser711Ile) single nucleotide variant not provided [RCV002287021] Chr20:50892582 [GRCh38]
Chr20:49509119 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2646G>T (p.Leu882Phe) single nucleotide variant not provided [RCV002267374] Chr20:50892068 [GRCh38]
Chr20:49508605 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.443_446del (p.Lys148fs) deletion ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV002283879] Chr20:50894268..50894271 [GRCh38]
Chr20:49510805..49510808 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_001282531.3(ADNP):c.2223C>G (p.Phe741Leu) single nucleotide variant not provided [RCV003233434] Chr20:50892491 [GRCh38]
Chr20:49509028 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.621G>T (p.Gly207=) single nucleotide variant Inborn genetic diseases [RCV002366522] Chr20:50894093 [GRCh38]
Chr20:49510630 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.2193_2197delinsA (p.Leu732fs) indel ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV002287608] Chr20:50892517..50892521 [GRCh38]
Chr20:49509054..49509058 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_001282531.3(ADNP):c.2630_2633del (p.Asp877fs) deletion not provided [RCV002260726] Chr20:50892081..50892084 [GRCh38]
Chr20:49508618..49508621 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.2056C>A (p.His686Asn) single nucleotide variant not provided [RCV002293758] Chr20:50892658 [GRCh38]
Chr20:49509195 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2877A>G (p.Gln959=) single nucleotide variant Inborn genetic diseases [RCV002437734]|not provided [RCV003102815] Chr20:50891837 [GRCh38]
Chr20:49508374 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.2901C>T (p.Asp967=) single nucleotide variant Inborn genetic diseases [RCV002438083] Chr20:50891813 [GRCh38]
Chr20:49508350 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.3009C>T (p.Ser1003=) single nucleotide variant Inborn genetic diseases [RCV002435742]|not provided [RCV003102970] Chr20:50891705 [GRCh38]
Chr20:49508242 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.832A>G (p.Lys278Glu) single nucleotide variant not provided [RCV002297253] Chr20:50893882 [GRCh38]
Chr20:49510419 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2617G>A (p.Asp873Asn) single nucleotide variant not provided [RCV003129185] Chr20:50892097 [GRCh38]
Chr20:49508634 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2212dup (p.Ser738fs) duplication ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV002471336]|not provided [RCV003698965] Chr20:50892501..50892502 [GRCh38]
Chr20:49509038..49509039 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.1074C>T (p.Ser358=) single nucleotide variant Inborn genetic diseases [RCV002417305] Chr20:50893640 [GRCh38]
Chr20:49510177 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.251A>G (p.Lys84Arg) single nucleotide variant not provided [RCV002303891] Chr20:50894463 [GRCh38]
Chr20:49511000 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1553G>A (p.Arg518His) single nucleotide variant Inborn genetic diseases [RCV002403413] Chr20:50893161 [GRCh38]
Chr20:49509698 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.971G>A (p.Ser324Asn) single nucleotide variant not provided [RCV002296815] Chr20:50893743 [GRCh38]
Chr20:49510280 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.946T>C (p.Ser316Pro) single nucleotide variant not provided [RCV002304110] Chr20:50893768 [GRCh38]
Chr20:49510305 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1151A>G (p.Gln384Arg) single nucleotide variant not provided [RCV002304685] Chr20:50893563 [GRCh38]
Chr20:49510100 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1771C>T (p.Pro591Ser) single nucleotide variant Inborn genetic diseases [RCV002401832]|not provided [RCV003097230] Chr20:50892943 [GRCh38]
Chr20:49509480 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.3079A>G (p.Lys1027Glu) single nucleotide variant Inborn genetic diseases [RCV002319848] Chr20:50891635 [GRCh38]
Chr20:49508172 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.150C>G (p.Asn50Lys) single nucleotide variant not provided [RCV002306394] Chr20:50902068 [GRCh38]
Chr20:49518605 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1772C>A (p.Pro591Gln) single nucleotide variant not provided [RCV002299674] Chr20:50892942 [GRCh38]
Chr20:49509479 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2922T>A (p.Ser974Arg) single nucleotide variant ADNP-related disorder [RCV003896194]|Inborn genetic diseases [RCV002439978]|not provided [RCV003102881] Chr20:50891792 [GRCh38]
Chr20:49508329 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.671A>G (p.Lys224Arg) single nucleotide variant Inborn genetic diseases [RCV002375920] Chr20:50894043 [GRCh38]
Chr20:49510580 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2337C>T (p.Pro779=) single nucleotide variant Inborn genetic diseases [RCV002457664] Chr20:50892377 [GRCh38]
Chr20:49508914 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.2815A>T (p.Ile939Phe) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV004725223]|not provided [RCV002308755] Chr20:50891899 [GRCh38]
Chr20:49508436 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.2763A>C (p.Ser921=) single nucleotide variant Inborn genetic diseases [RCV002439521] Chr20:50891951 [GRCh38]
Chr20:49508488 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.2713_2715del (p.Asn905del) deletion Inborn genetic diseases [RCV002431209] Chr20:50891999..50892001 [GRCh38]
Chr20:49508536..49508538 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1108C>G (p.Leu370Val) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV003492768]|Inborn genetic diseases [RCV002428659]|not provided [RCV003102065] Chr20:50893606 [GRCh38]
Chr20:49510143 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.253T>C (p.Phe85Leu) single nucleotide variant not provided [RCV002296834] Chr20:50894461 [GRCh38]
Chr20:49510998 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1179C>A (p.Ser393=) single nucleotide variant Inborn genetic diseases [RCV002340178]|not provided [RCV003094757] Chr20:50893535 [GRCh38]
Chr20:49510072 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_001282531.3(ADNP):c.2809G>A (p.Glu937Lys) single nucleotide variant Inborn genetic diseases [RCV002441670]|not provided [RCV003738275] Chr20:50891905 [GRCh38]
Chr20:49508442 [GRCh37]
Chr20:20q13.13		 benign|uncertain significance
NM_001282531.3(ADNP):c.925A>G (p.Ile309Val) single nucleotide variant Inborn genetic diseases [RCV002371406] Chr20:50893789 [GRCh38]
Chr20:49510326 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.313A>C (p.Ile105Leu) single nucleotide variant Inborn genetic diseases [RCV002320688] Chr20:50894401 [GRCh38]
Chr20:49510938 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.2788A>G (p.Lys930Glu) single nucleotide variant Inborn genetic diseases [RCV002441374]|not provided [RCV003102214] Chr20:50891926 [GRCh38]
Chr20:49508463 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.3281G>T (p.Gly1094Val) single nucleotide variant Inborn genetic diseases [RCV002445767]|not provided [RCV003099363] Chr20:50891433 [GRCh38]
Chr20:49507970 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.3258G>T (p.Glu1086Asp) single nucleotide variant Inborn genetic diseases [RCV002324929]|not provided [RCV005096211] Chr20:50891456 [GRCh38]
Chr20:49507993 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.2149C>T (p.Arg717Cys) single nucleotide variant ADNP-related disorder [RCV003903702]|Inborn genetic diseases [RCV002432410]|not provided [RCV003101084] Chr20:50892565 [GRCh38]
Chr20:49509102 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_001282531.3(ADNP):c.2400C>T (p.Ile800=) single nucleotide variant Inborn genetic diseases [RCV002450258]|not provided [RCV003098856] Chr20:50892314 [GRCh38]
Chr20:49508851 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.521A>G (p.Asp174Gly) single nucleotide variant not provided [RCV002301395] Chr20:50894193 [GRCh38]
Chr20:49510730 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.3068G>A (p.Arg1023Lys) single nucleotide variant Inborn genetic diseases [RCV002444292] Chr20:50891646 [GRCh38]
Chr20:49508183 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.918A>T (p.Arg306=) single nucleotide variant Inborn genetic diseases [RCV002450036] Chr20:50893796 [GRCh38]
Chr20:49510333 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.887G>A (p.Arg296Gln) single nucleotide variant Inborn genetic diseases [RCV002375975]|not provided [RCV003574941] Chr20:50893827 [GRCh38]
Chr20:49510364 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.147A>T (p.Lys49Asn) single nucleotide variant Inborn genetic diseases [RCV002397098]|not provided [RCV005097541]|not specified [RCV005406457] Chr20:50902071 [GRCh38]
Chr20:49518608 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1588C>A (p.His530Asn) single nucleotide variant not provided [RCV002308806] Chr20:50893126 [GRCh38]
Chr20:49509663 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.30C>A (p.Gly10=) single nucleotide variant Inborn genetic diseases [RCV002325939]|not provided [RCV003099196] Chr20:50903967 [GRCh38]
Chr20:49520504 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.2667T>A (p.Ser889Arg) single nucleotide variant Inborn genetic diseases [RCV002428778]|not provided [RCV003102090] Chr20:50892047 [GRCh38]
Chr20:49508584 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.607A>G (p.Lys203Glu) single nucleotide variant Inborn genetic diseases [RCV002359974] Chr20:50894107 [GRCh38]
Chr20:49510644 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.478G>A (p.Val160Ile) single nucleotide variant Inborn genetic diseases [RCV002337809] Chr20:50894236 [GRCh38]
Chr20:49510773 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2601C>T (p.Asn867=) single nucleotide variant Inborn genetic diseases [RCV002426260] Chr20:50892113 [GRCh38]
Chr20:49508650 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.961A>T (p.Met321Leu) single nucleotide variant not provided [RCV002297962] Chr20:50893753 [GRCh38]
Chr20:49510290 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1377T>C (p.Asn459=) single nucleotide variant Inborn genetic diseases [RCV002381076]|not provided [RCV003095059] Chr20:50893337 [GRCh38]
Chr20:49509874 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.656G>C (p.Ser219Thr) single nucleotide variant Inborn genetic diseases [RCV002364447] Chr20:50894058 [GRCh38]
Chr20:49510595 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1764A>G (p.Pro588=) single nucleotide variant Inborn genetic diseases [RCV002407627]|not provided [RCV003097224] Chr20:50892950 [GRCh38]
Chr20:49509487 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.3223G>A (p.Glu1075Lys) single nucleotide variant not provided [RCV002839073] Chr20:50891491 [GRCh38]
Chr20:49508028 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.2942T>C (p.Val981Ala) single nucleotide variant not provided [RCV002730690] Chr20:50891772 [GRCh38]
Chr20:49508309 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1930C>A (p.Arg644=) single nucleotide variant not provided [RCV002614927] Chr20:50892784 [GRCh38]
Chr20:49509321 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.2568del (p.Asn857fs) deletion not provided [RCV002512034] Chr20:50892146 [GRCh38]
Chr20:49508683 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_001282531.3(ADNP):c.2960A>G (p.Asn987Ser) single nucleotide variant not provided [RCV002967757] Chr20:50891754 [GRCh38]
Chr20:49508291 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2527G>C (p.Glu843Gln) single nucleotide variant not provided [RCV002751273] Chr20:50892187 [GRCh38]
Chr20:49508724 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.-89-3923_201+2793inv inversion Intellectual disability [RCV002512427] Chr20:50899224..50908772 [GRCh38]
Chr20:49515761..49525309 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_001282531.3(ADNP):c.2892G>A (p.Glu964=) single nucleotide variant not provided [RCV002731118] Chr20:50891822 [GRCh38]
Chr20:49508359 [GRCh37]
Chr20:20q13.13		 benign|uncertain significance
NM_001282531.3(ADNP):c.477T>C (p.Ser159=) single nucleotide variant not provided [RCV002837737] Chr20:50894237 [GRCh38]
Chr20:49510774 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1137G>A (p.Gly379=) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV004725411]|not provided [RCV002908515] Chr20:50893577 [GRCh38]
Chr20:49510114 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.208C>A (p.Arg70=) single nucleotide variant not provided [RCV002842341] Chr20:50894506 [GRCh38]
Chr20:49511043 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2316A>G (p.Thr772=) single nucleotide variant not provided [RCV003013985] Chr20:50892398 [GRCh38]
Chr20:49508935 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.3010G>C (p.Glu1004Gln) single nucleotide variant not provided [RCV002795030] Chr20:50891704 [GRCh38]
Chr20:49508241 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.2305del (p.Ser769fs) deletion not provided [RCV002861892] Chr20:50892409 [GRCh38]
Chr20:49508946 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.1110T>G (p.Leu370=) single nucleotide variant not provided [RCV002948206] Chr20:50893604 [GRCh38]
Chr20:49510141 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.2248G>A (p.Val750Ile) single nucleotide variant not provided [RCV003035106] Chr20:50892466 [GRCh38]
Chr20:49509003 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.460_462del (p.Pro154del) deletion not provided [RCV002882032] Chr20:50894252..50894254 [GRCh38]
Chr20:49510789..49510791 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2985C>T (p.Thr995=) single nucleotide variant not provided [RCV002731272] Chr20:50891729 [GRCh38]
Chr20:49508266 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.1808T>A (p.Ile603Asn) single nucleotide variant not provided [RCV002838597] Chr20:50892906 [GRCh38]
Chr20:49509443 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1837G>A (p.Val613Met) single nucleotide variant not provided [RCV002511437] Chr20:50892877 [GRCh38]
Chr20:49509414 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.108+7A>G single nucleotide variant not provided [RCV002881557] Chr20:50903882 [GRCh38]
Chr20:49520419 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1759C>T (p.Pro587Ser) single nucleotide variant Inborn genetic diseases [RCV002859496] Chr20:50892955 [GRCh38]
Chr20:49509492 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.396C>T (p.Asn132=) single nucleotide variant not provided [RCV002750367] Chr20:50894318 [GRCh38]
Chr20:49510855 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.1722C>T (p.Ala574=) single nucleotide variant not provided [RCV003013760] Chr20:50892992 [GRCh38]
Chr20:49509529 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.-198T>C single nucleotide variant not provided [RCV002512035] Chr20:50928759 [GRCh38]
Chr20:49545296 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.2248GTT[1] (p.Val751del) microsatellite not provided [RCV002731463] Chr20:50892461..50892463 [GRCh38]
Chr20:49508998..49509000 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.704C>G (p.Ala235Gly) single nucleotide variant Inborn genetic diseases [RCV002995864]|not provided [RCV002995863] Chr20:50894010 [GRCh38]
Chr20:49510547 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.2756A>T (p.Asp919Val) single nucleotide variant not provided [RCV002755648] Chr20:50891958 [GRCh38]
Chr20:49508495 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.3172T>C (p.Ser1058Pro) single nucleotide variant Inborn genetic diseases [RCV002901257]|not provided [RCV003708712] Chr20:50891542 [GRCh38]
Chr20:49508079 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.2495A>T (p.Asn832Ile) single nucleotide variant not provided [RCV003016981] Chr20:50892219 [GRCh38]
Chr20:49508756 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.2453A>T (p.Tyr818Phe) single nucleotide variant not provided [RCV002843118] Chr20:50892261 [GRCh38]
Chr20:49508798 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2795A>G (p.Asp932Gly) single nucleotide variant not provided [RCV002904094] Chr20:50891919 [GRCh38]
Chr20:49508456 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.204C>A (p.Asp68Glu) single nucleotide variant not provided [RCV002462419] Chr20:50894510 [GRCh38]
Chr20:49511047 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2747T>C (p.Ile916Thr) single nucleotide variant Inborn genetic diseases [RCV004617088]|not provided [RCV002775048] Chr20:50891967 [GRCh38]
Chr20:49508504 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.917G>A (p.Arg306Gln) single nucleotide variant Inborn genetic diseases [RCV002689587]|not provided [RCV005099085] Chr20:50893797 [GRCh38]
Chr20:49510334 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.3167G>A (p.Arg1056His) single nucleotide variant not provided [RCV002640298] Chr20:50891547 [GRCh38]
Chr20:49508084 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1259T>C (p.Val420Ala) single nucleotide variant not provided [RCV002820493] Chr20:50893455 [GRCh38]
Chr20:49509992 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.854C>A (p.Pro285Gln) single nucleotide variant Inborn genetic diseases [RCV002798657]|not provided [RCV003660975] Chr20:50893860 [GRCh38]
Chr20:49510397 [GRCh37]
Chr20:20q13.13		 benign|uncertain significance
NM_001282531.3(ADNP):c.392C>T (p.Pro131Leu) single nucleotide variant Inborn genetic diseases [RCV002622016]|not provided [RCV002622015] Chr20:50894322 [GRCh38]
Chr20:49510859 [GRCh37]
Chr20:20q13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001282531.3(ADNP):c.2660A>G (p.Asn887Ser) single nucleotide variant Inborn genetic diseases [RCV005323286]|not provided [RCV003021856] Chr20:50892054 [GRCh38]
Chr20:49508591 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.2494A>C (p.Asn832His) single nucleotide variant not provided [RCV003039078] Chr20:50892220 [GRCh38]
Chr20:49508757 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.369A>T (p.Thr123=) single nucleotide variant not provided [RCV003055616] Chr20:50894345 [GRCh38]
Chr20:49510882 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2776A>G (p.Lys926Glu) single nucleotide variant not provided [RCV002760703] Chr20:50891938 [GRCh38]
Chr20:49508475 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.1929dup (p.Arg644fs) duplication not provided [RCV002871389] Chr20:50892784..50892785 [GRCh38]
Chr20:49509321..49509322 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.800C>A (p.Pro267His) single nucleotide variant Inborn genetic diseases [RCV002707537]|not provided [RCV003689023] Chr20:50893914 [GRCh38]
Chr20:49510451 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2669G>T (p.Gly890Val) single nucleotide variant not provided [RCV002953745] Chr20:50892045 [GRCh38]
Chr20:49508582 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1308C>G (p.Pro436=) single nucleotide variant not provided [RCV002785618] Chr20:50893406 [GRCh38]
Chr20:49509943 [GRCh37]
Chr20:20q13.13		 benign|uncertain significance
NM_001282531.3(ADNP):c.3050C>G (p.Ala1017Gly) single nucleotide variant not provided [RCV002736685] Chr20:50891664 [GRCh38]
Chr20:49508201 [GRCh37]
Chr20:20q13.13		 benign
NM_001282531.3(ADNP):c.2246C>G (p.Pro749Arg) single nucleotide variant not provided [RCV002736686] Chr20:50892468 [GRCh38]
Chr20:49509005 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.3137A>G (p.Gln1046Arg) single nucleotide variant not provided [RCV003055337] Chr20:50891577 [GRCh38]
Chr20:49508114 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1061A>G (p.Asn354Ser) single nucleotide variant not provided [RCV002914414] Chr20:50893653 [GRCh38]
Chr20:49510190 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2751T>C (p.Pro917=) single nucleotide variant not provided [RCV002909287] Chr20:50891963 [GRCh38]
Chr20:49508500 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.1069G>A (p.Val357Ile) single nucleotide variant not provided [RCV002820549] Chr20:50893645 [GRCh38]
Chr20:49510182 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1762C>T (p.Pro588Ser) single nucleotide variant Inborn genetic diseases [RCV002886773] Chr20:50892952 [GRCh38]
Chr20:49509489 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.3097T>A (p.Tyr1033Asn) single nucleotide variant not provided [RCV002636955] Chr20:50891617 [GRCh38]
Chr20:49508154 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2701C>T (p.Pro901Ser) single nucleotide variant not provided [RCV002736856] Chr20:50892013 [GRCh38]
Chr20:49508550 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2451G>A (p.Lys817=) single nucleotide variant not provided [RCV003054687] Chr20:50892263 [GRCh38]
Chr20:49508800 [GRCh37]
Chr20:20q13.13		 benign
NM_001282531.3(ADNP):c.312G>A (p.Arg104=) single nucleotide variant not provided [RCV003000089] Chr20:50894402 [GRCh38]
Chr20:49510939 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.2644T>G (p.Leu882Val) single nucleotide variant not provided [RCV002820279] Chr20:50892070 [GRCh38]
Chr20:49508607 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1039A>G (p.Met347Val) single nucleotide variant Inborn genetic diseases [RCV002620832]|not provided [RCV002643586] Chr20:50893675 [GRCh38]
Chr20:49510212 [GRCh37]
Chr20:20q13.13		 benign|likely benign|uncertain significance
NM_001282531.3(ADNP):c.35T>A (p.Leu12Ter) single nucleotide variant not provided [RCV002824853] Chr20:50903962 [GRCh38]
Chr20:49520499 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.1808T>C (p.Ile603Thr) single nucleotide variant not provided [RCV002795649] Chr20:50892906 [GRCh38]
Chr20:49509443 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.599C>T (p.Ala200Val) single nucleotide variant not provided [RCV002848077] Chr20:50894115 [GRCh38]
Chr20:49510652 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.2028C>T (p.Thr676=) single nucleotide variant not provided [RCV002952571] Chr20:50892686 [GRCh38]
Chr20:49509223 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.639G>A (p.Ser213=) single nucleotide variant not provided [RCV002948917] Chr20:50894075 [GRCh38]
Chr20:49510612 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.2716G>A (p.Asp906Asn) single nucleotide variant Inborn genetic diseases [RCV003167767]|not provided [RCV002781431] Chr20:50891998 [GRCh38]
Chr20:49508535 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_001282531.3(ADNP):c.2283T>G (p.Asp761Glu) single nucleotide variant not provided [RCV003054767] Chr20:50892431 [GRCh38]
Chr20:49508968 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2767T>A (p.Ser923Thr) single nucleotide variant not provided [RCV003018468] Chr20:50891947 [GRCh38]
Chr20:49508484 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.321T>C (p.Leu107=) single nucleotide variant not provided [RCV002761018] Chr20:50894393 [GRCh38]
Chr20:49510930 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.2882A>T (p.Asp961Val) single nucleotide variant not provided [RCV002791526] Chr20:50891832 [GRCh38]
Chr20:49508369 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.808C>G (p.Leu270Val) single nucleotide variant not provided [RCV002508450] Chr20:50893906 [GRCh38]
Chr20:49510443 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.3099T>C (p.Tyr1033=) single nucleotide variant not provided [RCV002828375] Chr20:50891615 [GRCh38]
Chr20:49508152 [GRCh37]
Chr20:20q13.13		 likely benign|conflicting interpretations of pathogenicity
NM_001282531.3(ADNP):c.880A>G (p.Asn294Asp) single nucleotide variant Inborn genetic diseases [RCV004068561]|not provided [RCV003025579] Chr20:50893834 [GRCh38]
Chr20:49510371 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.1596G>T (p.Arg532=) single nucleotide variant not provided [RCV002958028] Chr20:50893118 [GRCh38]
Chr20:49509655 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.1031G>A (p.Gly344Asp) single nucleotide variant not provided [RCV002872651] Chr20:50893683 [GRCh38]
Chr20:49510220 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2481C>T (p.Asn827=) single nucleotide variant not provided [RCV002741563] Chr20:50892233 [GRCh38]
Chr20:49508770 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1159C>A (p.Gln387Lys) single nucleotide variant Inborn genetic diseases [RCV002697441] Chr20:50893555 [GRCh38]
Chr20:49510092 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1401_1404del (p.Lys467fs) deletion not provided [RCV002894242] Chr20:50893310..50893313 [GRCh38]
Chr20:49509847..49509850 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.2941G>C (p.Val981Leu) single nucleotide variant not provided [RCV002828923] Chr20:50891773 [GRCh38]
Chr20:49508310 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2610G>A (p.Lys870=) single nucleotide variant not provided [RCV002917171] Chr20:50892104 [GRCh38]
Chr20:49508641 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.671A>C (p.Lys224Thr) single nucleotide variant not provided [RCV003041983] Chr20:50894043 [GRCh38]
Chr20:49510580 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.674G>A (p.Arg225Gln) single nucleotide variant not provided [RCV003023251] Chr20:50894040 [GRCh38]
Chr20:49510577 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.1789G>A (p.Val597Ile) single nucleotide variant not provided [RCV002765373] Chr20:50892925 [GRCh38]
Chr20:49509462 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.714G>T (p.Gln238His) single nucleotide variant not provided [RCV003022366] Chr20:50894000 [GRCh38]
Chr20:49510537 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1819A>C (p.Ser607Arg) single nucleotide variant Inborn genetic diseases [RCV002743092] Chr20:50892895 [GRCh38]
Chr20:49509432 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2737C>A (p.Leu913Met) single nucleotide variant not provided [RCV002871712] Chr20:50891977 [GRCh38]
Chr20:49508514 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.949A>G (p.Thr317Ala) single nucleotide variant Inborn genetic diseases [RCV005323361]|not provided [RCV002595930] Chr20:50893765 [GRCh38]
Chr20:49510302 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.1810C>T (p.Pro604Ser) single nucleotide variant not provided [RCV002801263] Chr20:50892904 [GRCh38]
Chr20:49509441 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.698A>G (p.Tyr233Cys) single nucleotide variant not provided [RCV002851091] Chr20:50894016 [GRCh38]
Chr20:49510553 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.103A>G (p.Ile35Val) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV004784080]|Inborn genetic diseases [RCV003340569]|not provided [RCV002958000] Chr20:50903894 [GRCh38]
Chr20:49520431 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.883G>A (p.Val295Ile) single nucleotide variant not provided [RCV002596346] Chr20:50893831 [GRCh38]
Chr20:49510368 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.3144G>T (p.Lys1048Asn) single nucleotide variant not provided [RCV003005470] Chr20:50891570 [GRCh38]
Chr20:49508107 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2872G>T (p.Asp958Tyr) single nucleotide variant not provided [RCV002791157] Chr20:50891842 [GRCh38]
Chr20:49508379 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2722C>A (p.Pro908Thr) single nucleotide variant not provided [RCV002623819] Chr20:50891992 [GRCh38]
Chr20:49508529 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1086A>G (p.Gln362=) single nucleotide variant not provided [RCV002985726] Chr20:50893628 [GRCh38]
Chr20:49510165 [GRCh37]
Chr20:20q13.13		 benign|uncertain significance
NM_001282531.3(ADNP):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV003041388] Chr20:50903996 [GRCh38]
Chr20:49520533 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.963G>C (p.Met321Ile) single nucleotide variant not provided [RCV002623539] Chr20:50893751 [GRCh38]
Chr20:49510288 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1018G>A (p.Gly340Ser) single nucleotide variant Inborn genetic diseases [RCV002743707]|not provided [RCV003575028]|not specified [RCV004526970] Chr20:50893696 [GRCh38]
Chr20:49510233 [GRCh37]
Chr20:20q13.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001282531.3(ADNP):c.991A>T (p.Asn331Tyr) single nucleotide variant Inborn genetic diseases [RCV002718049]|not provided [RCV003660972] Chr20:50893723 [GRCh38]
Chr20:49510260 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.976C>G (p.His326Asp) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV004725485]|not provided [RCV003065931] Chr20:50893738 [GRCh38]
Chr20:49510275 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.1973A>G (p.Lys658Arg) single nucleotide variant not provided [RCV002602898] Chr20:50892741 [GRCh38]
Chr20:49509278 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1039A>C (p.Met347Leu) single nucleotide variant not provided [RCV003049162] Chr20:50893675 [GRCh38]
Chr20:49510212 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.3071A>T (p.Glu1024Val) single nucleotide variant Inborn genetic diseases [RCV004065592]|not provided [RCV002601111] Chr20:50891643 [GRCh38]
Chr20:49508180 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2273G>T (p.Gly758Val) single nucleotide variant not provided [RCV003066020] Chr20:50892441 [GRCh38]
Chr20:49508978 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1591A>T (p.Met531Leu) single nucleotide variant not provided [RCV002791780] Chr20:50893123 [GRCh38]
Chr20:49509660 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.2916T>C (p.Ser972=) single nucleotide variant not provided [RCV002834987] Chr20:50891798 [GRCh38]
Chr20:49508335 [GRCh37]
Chr20:20q13.13		 benign
NM_001282531.3(ADNP):c.2220C>T (p.Ser740=) single nucleotide variant ADNP-related disorder [RCV004725385]|not provided [RCV002810378] Chr20:50892494 [GRCh38]
Chr20:49509031 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.2215C>T (p.Pro739Ser) single nucleotide variant not provided [RCV002962881] Chr20:50892499 [GRCh38]
Chr20:49509036 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.231C>T (p.Ser77=) single nucleotide variant not provided [RCV002600465] Chr20:50894483 [GRCh38]
Chr20:49511020 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.109-16T>C single nucleotide variant not provided [RCV003009740] Chr20:50902125 [GRCh38]
Chr20:49518662 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.3156G>A (p.Glu1052=) single nucleotide variant not provided [RCV003046029] Chr20:50891558 [GRCh38]
Chr20:49508095 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.109-7T>C single nucleotide variant not provided [RCV003026601] Chr20:50902116 [GRCh38]
Chr20:49518653 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1913C>T (p.Ala638Val) single nucleotide variant not provided [RCV002877220] Chr20:50892801 [GRCh38]
Chr20:49509338 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2591A>T (p.Lys864Ile) single nucleotide variant not provided [RCV003063777] Chr20:50892123 [GRCh38]
Chr20:49508660 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.3100G>A (p.Gly1034Arg) single nucleotide variant not provided [RCV003064611] Chr20:50891614 [GRCh38]
Chr20:49508151 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.1169C>G (p.Ala390Gly) single nucleotide variant Inborn genetic diseases [RCV004978485]|not provided [RCV003046553] Chr20:50893545 [GRCh38]
Chr20:49510082 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.469G>T (p.Ala157Ser) single nucleotide variant not provided [RCV002599845] Chr20:50894245 [GRCh38]
Chr20:49510782 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.201+19T>C single nucleotide variant not provided [RCV003063865] Chr20:50901998 [GRCh38]
Chr20:49518535 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1332A>G (p.Gln444=) single nucleotide variant not provided [RCV002806915] Chr20:50893382 [GRCh38]
Chr20:49509919 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1101G>C (p.Lys367Asn) single nucleotide variant not provided [RCV002833592] Chr20:50893613 [GRCh38]
Chr20:49510150 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2851A>G (p.Asn951Asp) single nucleotide variant not provided [RCV002770076] Chr20:50891863 [GRCh38]
Chr20:49508400 [GRCh37]
Chr20:20q13.13		 benign
NM_001282531.3(ADNP):c.2636T>C (p.Phe879Ser) single nucleotide variant not provided [RCV002938282] Chr20:50892078 [GRCh38]
Chr20:49508615 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.1286C>T (p.Ala429Val) single nucleotide variant Inborn genetic diseases [RCV002855679] Chr20:50893428 [GRCh38]
Chr20:49509965 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.244T>G (p.Ser82Ala) single nucleotide variant Inborn genetic diseases [RCV002718012] Chr20:50894470 [GRCh38]
Chr20:49511007 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2667T>G (p.Ser889Arg) single nucleotide variant not provided [RCV002602289] Chr20:50892047 [GRCh38]
Chr20:49508584 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2911C>T (p.Pro971Ser) single nucleotide variant Inborn genetic diseases [RCV002936233] Chr20:50891803 [GRCh38]
Chr20:49508340 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.405A>G (p.Ala135=) single nucleotide variant not provided [RCV002937865] Chr20:50894309 [GRCh38]
Chr20:49510846 [GRCh37]
Chr20:20q13.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_001282531.3(ADNP):c.3166C>T (p.Arg1056Cys) single nucleotide variant ADNP-related disorder [RCV003963513]|Inborn genetic diseases [RCV004617135]|not provided [RCV002962444] Chr20:50891548 [GRCh38]
Chr20:49508085 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.2882_2884del (p.Asp961del) deletion not provided [RCV002578976] Chr20:50891830..50891832 [GRCh38]
Chr20:49508367..49508369 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.109-5T>C single nucleotide variant Inborn genetic diseases [RCV003087294]|not provided [RCV003087293] Chr20:50902114 [GRCh38]
Chr20:49518651 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.2124G>A (p.Gln708=) single nucleotide variant not provided [RCV003063295] Chr20:50892590 [GRCh38]
Chr20:49509127 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.1661T>C (p.Leu554Ser) single nucleotide variant not provided [RCV003059982] Chr20:50893053 [GRCh38]
Chr20:49509590 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2885TTG[1] (p.Val963del) microsatellite not provided [RCV003086142] Chr20:50891824..50891826 [GRCh38]
Chr20:49508361..49508363 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1710T>C (p.Asn570=) single nucleotide variant not provided [RCV002606337] Chr20:50893004 [GRCh38]
Chr20:49509541 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.379A>G (p.Ile127Val) single nucleotide variant not provided [RCV002584820] Chr20:50894335 [GRCh38]
Chr20:49510872 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.906G>C (p.Gln302His) single nucleotide variant Inborn genetic diseases [RCV002722747] Chr20:50893808 [GRCh38]
Chr20:49510345 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2222T>G (p.Phe741Cys) single nucleotide variant not provided [RCV003072876] Chr20:50892492 [GRCh38]
Chr20:49509029 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1402_1403del (p.Glu468fs) deletion not provided [RCV003149443] Chr20:50893311..50893312 [GRCh38]
Chr20:49509848..49509849 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_001282531.3(ADNP):c.2002C>T (p.Leu668Phe) single nucleotide variant not provided [RCV003154506] Chr20:50892712 [GRCh38]
Chr20:49509249 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.402C>G (p.Ser134Arg) single nucleotide variant not provided [RCV004780923] Chr20:50894312 [GRCh38]
Chr20:49510849 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.-5-6dup duplication not provided [RCV003229278] Chr20:50904006..50904007 [GRCh38]
Chr20:49520543..49520544 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.613C>G (p.Leu205Val) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV003141216]|not provided [RCV003708729] Chr20:50894101 [GRCh38]
Chr20:49510638 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.3266A>G (p.His1089Arg) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV003141217] Chr20:50891448 [GRCh38]
Chr20:49507985 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2197GAT[2] (p.Asp735del) microsatellite ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV003141219]|not provided [RCV003730406] Chr20:50892509..50892511 [GRCh38]
Chr20:49509046..49509048 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2968_2969inv (p.Glu990Ser) inversion ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV003141221] Chr20:50891745..50891746 [GRCh38]
Chr20:49508282..49508283 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2138C>T (p.Ala713Val) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV003141222]|not provided [RCV003661012] Chr20:50892576 [GRCh38]
Chr20:49509113 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.790del (p.Arg264fs) deletion ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV003141223] Chr20:50893924 [GRCh38]
Chr20:49510461 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.3206T>C (p.Ile1069Thr) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV003141224]|not provided [RCV003699031] Chr20:50891508 [GRCh38]
Chr20:49508045 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.3205A>G (p.Ile1069Val) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV003141225] Chr20:50891509 [GRCh38]
Chr20:49508046 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.185C>T (p.Ser62Leu) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV003225782] Chr20:50902033 [GRCh38]
Chr20:49518570 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.833dup (p.Lys279fs) duplication ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV003140434] Chr20:50893880..50893881 [GRCh38]
Chr20:49510417..49510418 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_001282531.3(ADNP):c.3047dup (p.Ala1017fs) duplication ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV003388217]|not provided [RCV003227102] Chr20:50891666..50891667 [GRCh38]
Chr20:49508203..49508204 [GRCh37]
Chr20:20q13.13		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001282531.3(ADNP):c.2113C>T (p.Arg705Trp) single nucleotide variant not provided [RCV003224052] Chr20:50892601 [GRCh38]
Chr20:49509138 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.819_820insT (p.Lys274Ter) insertion ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV003223451] Chr20:50893894..50893895 [GRCh38]
Chr20:49510431..49510432 [GRCh37]
Chr20:20q13.13		 not provided
NM_001282531.3(ADNP):c.-2C>A single nucleotide variant not provided [RCV003228427] Chr20:50903998 [GRCh38]
Chr20:49520535 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.-5-4A>G single nucleotide variant not provided [RCV003319625] Chr20:50904005 [GRCh38]
Chr20:49520542 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2093A>G (p.Asp698Gly) single nucleotide variant not provided [RCV003318863] Chr20:50892621 [GRCh38]
Chr20:49509158 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2086G>A (p.Gly696Ser) single nucleotide variant not provided [RCV003329896] Chr20:50892628 [GRCh38]
Chr20:49509165 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.3178C>G (p.Pro1060Ala) single nucleotide variant Inborn genetic diseases [RCV003377212] Chr20:50891536 [GRCh38]
Chr20:49508073 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.355A>G (p.Lys119Glu) single nucleotide variant not provided [RCV003332815] Chr20:50894359 [GRCh38]
Chr20:49510896 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.3017C>G (p.Ala1006Gly) single nucleotide variant not provided [RCV003569385] Chr20:50891697 [GRCh38]
Chr20:49508234 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.3262A>G (p.Met1088Val) single nucleotide variant not provided [RCV003686371] Chr20:50891452 [GRCh38]
Chr20:49507989 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2358T>G (p.Ile786Met) single nucleotide variant Inborn genetic diseases [RCV004369607]|not provided [RCV003873975] Chr20:50892356 [GRCh38]
Chr20:49508893 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.70A>C (p.Ser24Arg) single nucleotide variant not provided [RCV004778735] Chr20:50903927 [GRCh38]
Chr20:49520464 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1028T>C (p.Val343Ala) single nucleotide variant ADNP-related disorder [RCV003394415]|Inborn genetic diseases [RCV004364464] Chr20:50893686 [GRCh38]
Chr20:49510223 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.514T>C (p.Tyr172His) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV003447868] Chr20:50894200 [GRCh38]
Chr20:49510737 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.202-5_202-1del deletion ADNP-related disorder [RCV003397234] Chr20:50894513..50894517 [GRCh38]
Chr20:49511050..49511054 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_001282531.3(ADNP):c.-90+9900G>C single nucleotide variant not provided [RCV003431361] Chr20:50918751 [GRCh38]
Chr20:49535288 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.3207T>A (p.Ile1069=) single nucleotide variant not provided [RCV003440440] Chr20:50891507 [GRCh38]
Chr20:49508044 [GRCh37]
Chr20:20q13.13		 likely benign|conflicting interpretations of pathogenicity
NM_001282531.3(ADNP):c.2438G>A (p.Arg813His) single nucleotide variant not provided [RCV003443502] Chr20:50892276 [GRCh38]
Chr20:49508813 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.328C>T (p.Pro110Ser) single nucleotide variant ADNP-related disorder [RCV003405875] Chr20:50894386 [GRCh38]
Chr20:49510923 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1298C>T (p.Thr433Ile) single nucleotide variant not provided [RCV003431359] Chr20:50893416 [GRCh38]
Chr20:49509953 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.589A>G (p.Ile197Val) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV005356433]|not provided [RCV003431360] Chr20:50894125 [GRCh38]
Chr20:49510662 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.2759C>T (p.Ala920Val) single nucleotide variant not provided [RCV003440441] Chr20:50891955 [GRCh38]
Chr20:49508492 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.948T>C (p.Ser316=) single nucleotide variant not provided [RCV003440442] Chr20:50893766 [GRCh38]
Chr20:49510303 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.484C>G (p.Gln162Glu) single nucleotide variant ADNP-related disorder [RCV003402834] Chr20:50894230 [GRCh38]
Chr20:49510767 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.788C>A (p.Pro263His) single nucleotide variant ADNP-related disorder [RCV003410579] Chr20:50893926 [GRCh38]
Chr20:49510463 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2919G>T (p.Glu973Asp) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV004723314]|not provided [RCV003441309] Chr20:50891795 [GRCh38]
Chr20:49508332 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.*1576G>A single nucleotide variant not provided [RCV003431357] Chr20:50889829 [GRCh38]
Chr20:49506366 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.1907C>A (p.Ser636Tyr) single nucleotide variant not provided [RCV003431358] Chr20:50892807 [GRCh38]
Chr20:49509344 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.460C>T (p.Pro154Ser) single nucleotide variant not provided [RCV003442487] Chr20:50894254 [GRCh38]
Chr20:49510791 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2041A>T (p.Thr681Ser) single nucleotide variant ADNP-related disorder [RCV003402774] Chr20:50892673 [GRCh38]
Chr20:49509210 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.3020G>A (p.Arg1007Lys) single nucleotide variant ADNP-related disorder [RCV003400464]|not provided [RCV003565670] Chr20:50891694 [GRCh38]
Chr20:49508231 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.2350A>G (p.Arg784Gly) single nucleotide variant ADNP-related disorder [RCV003393161] Chr20:50892364 [GRCh38]
Chr20:49508901 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.647G>A (p.Arg216Gln) single nucleotide variant not provided [RCV003740038] Chr20:50894067 [GRCh38]
Chr20:49510604 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.7C>T (p.Gln3Ter) single nucleotide variant not provided [RCV003694801] Chr20:50903990 [GRCh38]
Chr20:49520527 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.2995G>A (p.Glu999Lys) single nucleotide variant not provided [RCV003660456] Chr20:50891719 [GRCh38]
Chr20:49508256 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.3017C>A (p.Ala1006Glu) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV004723344]|not provided [RCV003544006] Chr20:50891697 [GRCh38]
Chr20:49508234 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.2933C>T (p.Ser978Phe) single nucleotide variant not provided [RCV003740035] Chr20:50891781 [GRCh38]
Chr20:49508318 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.1585G>A (p.Ala529Thr) single nucleotide variant not provided [RCV003740036] Chr20:50893129 [GRCh38]
Chr20:49509666 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.659G>A (p.Ser220Asn) single nucleotide variant not provided [RCV003740037] Chr20:50894055 [GRCh38]
Chr20:49510592 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.3122C>T (p.Ser1041Phe) single nucleotide variant not provided [RCV003662581] Chr20:50891592 [GRCh38]
Chr20:49508129 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2902G>A (p.Gly968Ser) single nucleotide variant not provided [RCV003829414] Chr20:50891812 [GRCh38]
Chr20:49508349 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1758TCC[1] (p.Pro588del) microsatellite not provided [RCV003694950] Chr20:50892951..50892953 [GRCh38]
Chr20:49509488..49509490 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1271C>G (p.Ser424Cys) single nucleotide variant not provided [RCV003662056] Chr20:50893443 [GRCh38]
Chr20:49509980 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1677C>T (p.His559=) single nucleotide variant not provided [RCV003694554] Chr20:50893037 [GRCh38]
Chr20:49509574 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.816T>C (p.Ala272=) single nucleotide variant not provided [RCV003577204] Chr20:50893898 [GRCh38]
Chr20:49510435 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.2295A>G (p.Glu765=) single nucleotide variant not provided [RCV003876267] Chr20:50892419 [GRCh38]
Chr20:49508956 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.871G>A (p.Ala291Thr) single nucleotide variant not provided [RCV003577940] Chr20:50893843 [GRCh38]
Chr20:49510380 [GRCh37]
Chr20:20q13.13		 benign
NM_001282531.3(ADNP):c.401G>A (p.Ser134Asn) single nucleotide variant not provided [RCV003714834] Chr20:50894313 [GRCh38]
Chr20:49510850 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.3057G>T (p.Met1019Ile) single nucleotide variant not provided [RCV003694425] Chr20:50891657 [GRCh38]
Chr20:49508194 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1306C>A (p.Pro436Thr) single nucleotide variant not provided [RCV003687997] Chr20:50893408 [GRCh38]
Chr20:49509945 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.94A>G (p.Lys32Glu) single nucleotide variant not provided [RCV003547133] Chr20:50903903 [GRCh38]
Chr20:49520440 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.2723C>T (p.Pro908Leu) single nucleotide variant not provided [RCV003715837] Chr20:50891991 [GRCh38]
Chr20:49508528 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.950C>T (p.Thr317Ile) single nucleotide variant not provided [RCV003577676] Chr20:50893764 [GRCh38]
Chr20:49510301 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.2821T>G (p.Leu941Val) single nucleotide variant not provided [RCV003715884] Chr20:50891893 [GRCh38]
Chr20:49508430 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1686C>T (p.Ile562=) single nucleotide variant not provided [RCV003659733] Chr20:50893028 [GRCh38]
Chr20:49509565 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.2419_2423del (p.Lys807fs) deletion not provided [RCV003572212] Chr20:50892291..50892295 [GRCh38]
Chr20:49508828..49508832 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.2631C>T (p.Asp877=) single nucleotide variant not provided [RCV003545763] Chr20:50892083 [GRCh38]
Chr20:49508620 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.1229C>T (p.Pro410Leu) single nucleotide variant not provided [RCV003715842] Chr20:50893485 [GRCh38]
Chr20:49510022 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.172C>T (p.Leu58=) single nucleotide variant not provided [RCV003714983]|not specified [RCV004587545] Chr20:50902046 [GRCh38]
Chr20:49518583 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.109-14del deletion not provided [RCV003662877] Chr20:50902123 [GRCh38]
Chr20:49518660 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1146A>G (p.Ser382=) single nucleotide variant not provided [RCV003688448] Chr20:50893568 [GRCh38]
Chr20:49510105 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.2304A>G (p.Lys768=) single nucleotide variant not provided [RCV003661538] Chr20:50892410 [GRCh38]
Chr20:49508947 [GRCh37]
Chr20:20q13.13		 benign
NM_001282531.3(ADNP):c.3245_3247dup (p.Asp1082_Gly1083insAsp) duplication ADNP-related disorder [RCV004723400]|not provided [RCV003662414] Chr20:50891466..50891467 [GRCh38]
Chr20:49508003..49508004 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1097T>C (p.Val366Ala) single nucleotide variant not provided [RCV003547053] Chr20:50893617 [GRCh38]
Chr20:49510154 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.154A>G (p.Thr52Ala) single nucleotide variant not provided [RCV003690649] Chr20:50902064 [GRCh38]
Chr20:49518601 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.167T>G (p.Val56Gly) single nucleotide variant not provided [RCV003573818] Chr20:50902051 [GRCh38]
Chr20:49518588 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2182A>C (p.Lys728Gln) single nucleotide variant Developmental disorder [RCV003764455] Chr20:50892532 [GRCh38]
Chr20:49509069 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1135G>A (p.Gly379Arg) single nucleotide variant not provided [RCV003697753] Chr20:50893579 [GRCh38]
Chr20:49510116 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1134T>C (p.Tyr378=) single nucleotide variant not provided [RCV003698667] Chr20:50893580 [GRCh38]
Chr20:49510117 [GRCh37]
Chr20:20q13.13		 benign
NM_001282531.3(ADNP):c.3300A>G (p.Gln1100=) single nucleotide variant not provided [RCV003850549] Chr20:50891414 [GRCh38]
Chr20:49507951 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.2203G>A (p.Asp735Asn) single nucleotide variant not provided [RCV003550231] Chr20:50892511 [GRCh38]
Chr20:49509048 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2143G>T (p.Val715Leu) single nucleotide variant not provided [RCV003664659] Chr20:50892571 [GRCh38]
Chr20:49509108 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.866C>G (p.Ser289Cys) single nucleotide variant not provided [RCV003548349] Chr20:50893848 [GRCh38]
Chr20:49510385 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2963C>T (p.Thr988Ile) single nucleotide variant not provided [RCV003665994] Chr20:50891751 [GRCh38]
Chr20:49508288 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.201+16G>A single nucleotide variant not provided [RCV003699437] Chr20:50902001 [GRCh38]
Chr20:49518538 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.695C>T (p.Ser232Phe) single nucleotide variant not provided [RCV003659577] Chr20:50894019 [GRCh38]
Chr20:49510556 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2906C>G (p.Ala969Gly) single nucleotide variant not provided [RCV003834712]|not specified [RCV004783119] Chr20:50891808 [GRCh38]
Chr20:49508345 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1200T>C (p.Ser400=) single nucleotide variant not provided [RCV003698711] Chr20:50893514 [GRCh38]
Chr20:49510051 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.3066C>T (p.Asp1022=) single nucleotide variant not provided [RCV003702579] Chr20:50891648 [GRCh38]
Chr20:49508185 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.933G>A (p.Lys311=) single nucleotide variant not provided [RCV003668146] Chr20:50893781 [GRCh38]
Chr20:49510318 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2126C>T (p.Ser709Phe) single nucleotide variant not provided [RCV003725354] Chr20:50892588 [GRCh38]
Chr20:49509125 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1926C>T (p.His642=) single nucleotide variant not provided [RCV003698577] Chr20:50892788 [GRCh38]
Chr20:49509325 [GRCh37]
Chr20:20q13.13		 benign
NM_001282531.3(ADNP):c.2346C>G (p.Thr782=) single nucleotide variant not provided [RCV003664674] Chr20:50892368 [GRCh38]
Chr20:49508905 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.1607T>C (p.Ile536Thr) single nucleotide variant not provided [RCV003856166] Chr20:50893107 [GRCh38]
Chr20:49509644 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.75C>T (p.Asp25=) single nucleotide variant not provided [RCV003668853] Chr20:50903922 [GRCh38]
Chr20:49520459 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2206A>G (p.Ser736Gly) single nucleotide variant not provided [RCV003816992] Chr20:50892508 [GRCh38]
Chr20:49509045 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.429C>A (p.Phe143Leu) single nucleotide variant not provided [RCV003666742] Chr20:50894285 [GRCh38]
Chr20:49510822 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.201+17A>G single nucleotide variant not provided [RCV003666832] Chr20:50902000 [GRCh38]
Chr20:49518537 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.2087G>A (p.Gly696Asp) single nucleotide variant not provided [RCV003700412] Chr20:50892627 [GRCh38]
Chr20:49509164 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.246C>T (p.Ser82=) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV004723446]|not provided [RCV003726369] Chr20:50894468 [GRCh38]
Chr20:49511005 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.946T>G (p.Ser316Ala) single nucleotide variant not provided [RCV003667986] Chr20:50893768 [GRCh38]
Chr20:49510305 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.3222G>A (p.Gly1074=) single nucleotide variant not provided [RCV003701996] Chr20:50891492 [GRCh38]
Chr20:49508029 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.1362G>A (p.Glu454=) single nucleotide variant not provided [RCV003703070] Chr20:50893352 [GRCh38]
Chr20:49509889 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2430G>A (p.Lys810=) single nucleotide variant not provided [RCV003659458] Chr20:50892284 [GRCh38]
Chr20:49508821 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1591A>C (p.Met531Leu) single nucleotide variant not provided [RCV003699527] Chr20:50893123 [GRCh38]
Chr20:49509660 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.3076T>C (p.Leu1026=) single nucleotide variant not provided [RCV003672245] Chr20:50891638 [GRCh38]
Chr20:49508175 [GRCh37]
Chr20:20q13.13		 benign
NM_001282531.3(ADNP):c.2340T>C (p.Tyr780=) single nucleotide variant not provided [RCV003672078] Chr20:50892374 [GRCh38]
Chr20:49508911 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2022C>T (p.Asn674=) single nucleotide variant not provided [RCV003549281] Chr20:50892692 [GRCh38]
Chr20:49509229 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.3238A>G (p.Met1080Val) single nucleotide variant not provided [RCV003664720] Chr20:50891476 [GRCh38]
Chr20:49508013 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.474C>T (p.Asp158=) single nucleotide variant not provided [RCV003700949] Chr20:50894240 [GRCh38]
Chr20:49510777 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1737T>C (p.Val579=) single nucleotide variant not provided [RCV003697799] Chr20:50892977 [GRCh38]
Chr20:49509514 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.2175C>T (p.Pro725=) single nucleotide variant not provided [RCV003668835] Chr20:50892539 [GRCh38]
Chr20:49509076 [GRCh37]
Chr20:20q13.13		 benign
NM_001282531.3(ADNP):c.1891C>T (p.Leu631=) single nucleotide variant not provided [RCV003672676] Chr20:50892823 [GRCh38]
Chr20:49509360 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.1956G>A (p.Thr652=) single nucleotide variant ADNP-related disorder [RCV003939150]|not provided [RCV003698052] Chr20:50892758 [GRCh38]
Chr20:49509295 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_001282531.3(ADNP):c.2628A>G (p.Ser876=) single nucleotide variant not provided [RCV003717733] Chr20:50892086 [GRCh38]
Chr20:49508623 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.3292A>G (p.Ser1098Gly) single nucleotide variant not provided [RCV003542605] Chr20:50891422 [GRCh38]
Chr20:49507959 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.822del (p.Lys274fs) deletion not provided [RCV003567745] Chr20:50893892 [GRCh38]
Chr20:49510429 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.2795A>T (p.Asp932Val) single nucleotide variant not provided [RCV003554341] Chr20:50891919 [GRCh38]
Chr20:49508456 [GRCh37]
Chr20:20q13.13		 benign
NM_001282531.3(ADNP):c.1080T>A (p.Pro360=) single nucleotide variant not provided [RCV003707518] Chr20:50893634 [GRCh38]
Chr20:49510171 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.862G>A (p.Gly288Ser) single nucleotide variant not provided [RCV003554370] Chr20:50893852 [GRCh38]
Chr20:49510389 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.3078G>T (p.Leu1026Phe) single nucleotide variant not provided [RCV003706755] Chr20:50891636 [GRCh38]
Chr20:49508173 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.861C>T (p.Ile287=) single nucleotide variant ADNP-related disorder [RCV003984412]|not provided [RCV003705624] Chr20:50893853 [GRCh38]
Chr20:49510390 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.1659A>G (p.Thr553=) single nucleotide variant not provided [RCV003554472]|not specified [RCV004783074] Chr20:50893055 [GRCh38]
Chr20:49509592 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_001282531.3(ADNP):c.1212G>A (p.Ser404=) single nucleotide variant ADNP-related disorder [RCV003966584]|not provided [RCV003705520] Chr20:50893502 [GRCh38]
Chr20:49510039 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_001282531.3(ADNP):c.1632A>G (p.Thr544=) single nucleotide variant not provided [RCV003683465] Chr20:50893082 [GRCh38]
Chr20:49509619 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2742G>C (p.Lys914Asn) single nucleotide variant not provided [RCV003705669] Chr20:50891972 [GRCh38]
Chr20:49508509 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2689T>G (p.Phe897Val) single nucleotide variant not provided [RCV003682400] Chr20:50892025 [GRCh38]
Chr20:49508562 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2810A>T (p.Glu937Val) single nucleotide variant not provided [RCV003710017] Chr20:50891904 [GRCh38]
Chr20:49508441 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2885T>A (p.Val962Asp) single nucleotide variant Inborn genetic diseases [RCV004374310]|not provided [RCV003735726] Chr20:50891829 [GRCh38]
Chr20:49508366 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.2204A>C (p.Asp735Ala) single nucleotide variant not provided [RCV003568625] Chr20:50892510 [GRCh38]
Chr20:49509047 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.2103_2106dup (p.Pro703fs) duplication not provided [RCV003564534] Chr20:50892607..50892608 [GRCh38]
Chr20:49509144..49509145 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.2152A>T (p.Thr718Ser) single nucleotide variant not provided [RCV003557229] Chr20:50892562 [GRCh38]
Chr20:49509099 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.2167G>C (p.Glu723Gln) single nucleotide variant not provided [RCV003682378] Chr20:50892547 [GRCh38]
Chr20:49509084 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.104T>C (p.Ile35Thr) single nucleotide variant not provided [RCV003719745] Chr20:50903893 [GRCh38]
Chr20:49520430 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2271G>C (p.Lys757Asn) single nucleotide variant not provided [RCV003682377] Chr20:50892443 [GRCh38]
Chr20:49508980 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.1323C>A (p.Ser441=) single nucleotide variant not provided [RCV003723265] Chr20:50893391 [GRCh38]
Chr20:49509928 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.202-13G>A single nucleotide variant not provided [RCV003712427] Chr20:50894525 [GRCh38]
Chr20:49511062 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.3031C>T (p.Pro1011Ser) single nucleotide variant not provided [RCV003683323] Chr20:50891683 [GRCh38]
Chr20:49508220 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2174C>T (p.Pro725Leu) single nucleotide variant not provided [RCV003705791] Chr20:50892540 [GRCh38]
Chr20:49509077 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1322C>T (p.Ser441Phe) single nucleotide variant not provided [RCV003568521] Chr20:50893392 [GRCh38]
Chr20:49509929 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.291T>C (p.His97=) single nucleotide variant not provided [RCV003843006] Chr20:50894423 [GRCh38]
Chr20:49510960 [GRCh37]
Chr20:20q13.13		 benign
NM_001282531.3(ADNP):c.2547TGA[1] (p.Asp850del) microsatellite Inborn genetic diseases [RCV004980975]|not provided [RCV003730918] Chr20:50892162..50892164 [GRCh38]
Chr20:49508699..49508701 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.2112_2113del (p.Arg705fs) microsatellite not provided [RCV003564925] Chr20:50892601..50892602 [GRCh38]
Chr20:49509138..49509139 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.1834G>T (p.Ala612Ser) single nucleotide variant not provided [RCV003704368] Chr20:50892880 [GRCh38]
Chr20:49509417 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1569T>C (p.Asp523=) single nucleotide variant not provided [RCV003683369] Chr20:50893145 [GRCh38]
Chr20:49509682 [GRCh37]
Chr20:20q13.13		 benign
NM_001282531.3(ADNP):c.2843T>G (p.Leu948Arg) single nucleotide variant not provided [RCV003568624] Chr20:50891871 [GRCh38]
Chr20:49508408 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_001282531.3(ADNP):c.2373C>T (p.Ala791=) single nucleotide variant not provided [RCV003710214] Chr20:50892341 [GRCh38]
Chr20:49508878 [GRCh37]
Chr20:20q13.13		 benign
NM_001282531.3(ADNP):c.2239G>A (p.Glu747Lys) single nucleotide variant not specified [RCV003995161] Chr20:50892475 [GRCh38]
Chr20:49509012 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2468T>G (p.Leu823Trp) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV003991505] Chr20:50892246 [GRCh38]
Chr20:49508783 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_001282531.3(ADNP):c.1555T>A (p.Ser519Thr) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV003991673] Chr20:50893159 [GRCh38]
Chr20:49509696 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.3052A>G (p.Thr1018Ala) single nucleotide variant not provided [RCV003887372] Chr20:50891662 [GRCh38]
Chr20:49508199 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2576G>A (p.Ser859Asn) single nucleotide variant ADNP-related disorder [RCV003896279] Chr20:50892138 [GRCh38]
Chr20:49508675 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2189del (p.Arg730fs) deletion ADNP-related disorder [RCV003909256]|ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV004787080] Chr20:50892525 [GRCh38]
Chr20:49509062 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.*1471C>T single nucleotide variant not provided [RCV004546913] Chr20:50889934 [GRCh38]
Chr20:49506471 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.1230_1232del (p.Ser411del) deletion ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV004527479] Chr20:50893482..50893484 [GRCh38]
Chr20:49510019..49510021 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1177T>C (p.Ser393Pro) single nucleotide variant Inborn genetic diseases [RCV004377944] Chr20:50893537 [GRCh38]
Chr20:49510074 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.3104A>G (p.Lys1035Arg) single nucleotide variant not provided [RCV003887002] Chr20:50891610 [GRCh38]
Chr20:49508147 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.98A>G (p.Glu33Gly) single nucleotide variant Inborn genetic diseases [RCV004378056] Chr20:50903899 [GRCh38]
Chr20:49520436 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.3192G>T (p.Trp1064Cys) single nucleotide variant ADNP-related disorder [RCV003894654] Chr20:50891522 [GRCh38]
Chr20:49508059 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1395C>T (p.Phe465=) single nucleotide variant ADNP-related disorder [RCV003914318] Chr20:50893319 [GRCh38]
Chr20:49509856 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.1388T>C (p.Val463Ala) single nucleotide variant Inborn genetic diseases [RCV004377949] Chr20:50893326 [GRCh38]
Chr20:49509863 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.2056C>T (p.His686Tyr) single nucleotide variant Inborn genetic diseases [RCV004377961] Chr20:50892658 [GRCh38]
Chr20:49509195 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2819A>C (p.His940Pro) single nucleotide variant Inborn genetic diseases [RCV004377995] Chr20:50891895 [GRCh38]
Chr20:49508432 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.3070G>C (p.Glu1024Gln) single nucleotide variant Inborn genetic diseases [RCV004378008] Chr20:50891644 [GRCh38]
Chr20:49508181 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.2872G>C (p.Asp958His) single nucleotide variant ADNP-related disorder [RCV003897179] Chr20:50891842 [GRCh38]
Chr20:49508379 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2301del (p.Ser769fs) deletion ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV004566433] Chr20:50892413 [GRCh38]
Chr20:49508950 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.1351A>G (p.Ile451Val) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV004547228] Chr20:50893363 [GRCh38]
Chr20:49509900 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2353G>A (p.Glu785Lys) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV005230636]|not provided [RCV004590595] Chr20:50892361 [GRCh38]
Chr20:49508898 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2450dup (p.Tyr818fs) duplication ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV004566617] Chr20:50892263..50892264 [GRCh38]
Chr20:49508800..49508801 [GRCh37]
Chr20:20q13.13		 pathogenic
GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135) copy number gain 20q13.13qter duplication [RCV004555205] Chr20:50805746..64334135 [GRCh38]
Chr20:20q13.13-13.33		 pathogenic
NM_001282531.3(ADNP):c.1768C>T (p.Pro590Ser) single nucleotide variant not specified [RCV004587831] Chr20:50892946 [GRCh38]
Chr20:49509483 [GRCh37]
Chr20:20q13.13		 uncertain significance
NC_000020.10:g.(?_49520406)_(49571842_?)del deletion Congenital disorder of glycosylation type 1E [RCV004579444] Chr20:49520406..49571842 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.1363C>T (p.Leu455Phe) single nucleotide variant not provided [RCV004697497] Chr20:50893351 [GRCh38]
Chr20:49509888 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.518G>A (p.Arg173Gln) single nucleotide variant not provided [RCV004697498] Chr20:50894196 [GRCh38]
Chr20:49510733 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1930C>T (p.Arg644Ter) single nucleotide variant not provided [RCV004702102] Chr20:50892784 [GRCh38]
Chr20:49509321 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.995A>T (p.Tyr332Phe) single nucleotide variant Inborn genetic diseases [RCV004624402]|not provided [RCV005102168] Chr20:50893719 [GRCh38]
Chr20:49510256 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.92G>A (p.Cys31Tyr) single nucleotide variant not provided [RCV004697499] Chr20:50903905 [GRCh38]
Chr20:49520442 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.955G>A (p.Val319Ile) single nucleotide variant not provided [RCV004575378] Chr20:50893759 [GRCh38]
Chr20:49510296 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2153C>T (p.Thr718Ile) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV004594809] Chr20:50892561 [GRCh38]
Chr20:49509098 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.326G>A (p.Cys109Tyr) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV004594815] Chr20:50894388 [GRCh38]
Chr20:49510925 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_001282531.3(ADNP):c.981G>A (p.Leu327=) single nucleotide variant not specified [RCV004691010] Chr20:50893733 [GRCh38]
Chr20:49510270 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.3071_3072del (p.Glu1024fs) microsatellite ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV004796517] Chr20:50891642..50891643 [GRCh38]
Chr20:49508179..49508180 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.3247G>C (p.Gly1083Arg) single nucleotide variant not provided [RCV004779724] Chr20:50891467 [GRCh38]
Chr20:49508004 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2357T>C (p.Ile786Thr) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV004797485] Chr20:50892357 [GRCh38]
Chr20:49508894 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1134T>G (p.Tyr378Ter) single nucleotide variant not provided [RCV004721848] Chr20:50893580 [GRCh38]
Chr20:49510117 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.2676T>G (p.Pro892=) single nucleotide variant not provided [RCV004810240] Chr20:50892038 [GRCh38]
Chr20:49508575 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.1162G>C (p.Ala388Pro) single nucleotide variant ADNP-related disorder [RCV004740729] Chr20:50893552 [GRCh38]
Chr20:49510089 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2585C>G (p.Ala862Gly) single nucleotide variant not provided [RCV004726066] Chr20:50892129 [GRCh38]
Chr20:49508666 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.467A>G (p.Gln156Arg) single nucleotide variant not provided [RCV004773438] Chr20:50894247 [GRCh38]
Chr20:49510784 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.*1446A>G single nucleotide variant not provided [RCV004811404] Chr20:50889959 [GRCh38]
Chr20:49506496 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.424A>G (p.Thr142Ala) single nucleotide variant not specified [RCV004702911] Chr20:50894290 [GRCh38]
Chr20:49510827 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2930G>C (p.Gly977Ala) single nucleotide variant not provided [RCV004774016] Chr20:50891784 [GRCh38]
Chr20:49508321 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.3239T>C (p.Met1080Thr) single nucleotide variant not provided [RCV004769345] Chr20:50891475 [GRCh38]
Chr20:49508012 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1327A>G (p.Thr443Ala) single nucleotide variant not provided [RCV004721958] Chr20:50893387 [GRCh38]
Chr20:49509924 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_001282531.3(ADNP):c.527T>C (p.Leu176Pro) single nucleotide variant not provided [RCV004769924] Chr20:50894187 [GRCh38]
Chr20:49510724 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2507A>G (p.His836Arg) single nucleotide variant not provided [RCV004770605] Chr20:50892207 [GRCh38]
Chr20:49508744 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.970A>G (p.Ser324Gly) single nucleotide variant not provided [RCV004775924] Chr20:50893744 [GRCh38]
Chr20:49510281 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.14C>T (p.Pro5Leu) single nucleotide variant not provided [RCV004767871] Chr20:50903983 [GRCh38]
Chr20:49520520 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.3181_3182delinsAG (p.Gln1061Arg) indel not provided [RCV004767987] Chr20:50891532..50891533 [GRCh38]
Chr20:49508069..49508070 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2132del (p.Ser711fs) deletion ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV004795474] Chr20:50892582 [GRCh38]
Chr20:49509119 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_001282531.3(ADNP):c.740T>C (p.Ile247Thr) single nucleotide variant not provided [RCV004760917] Chr20:50893974 [GRCh38]
Chr20:49510511 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1402G>C (p.Glu468Gln) single nucleotide variant not provided [RCV004778708] Chr20:50893312 [GRCh38]
Chr20:49509849 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV004721916] Chr20:50903995 [GRCh38]
Chr20:49520532 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.2666del (p.Ser889fs) deletion ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV004797538] Chr20:50892048 [GRCh38]
Chr20:49508585 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_001282531.3(ADNP):c.1035_1038del (p.Gln345_Ser346insTer) microsatellite not provided [RCV004720132] Chr20:50893676..50893679 [GRCh38]
Chr20:49510213..49510216 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.2567T>G (p.Val856Gly) single nucleotide variant Inborn genetic diseases [RCV004976808] Chr20:50892147 [GRCh38]
Chr20:49508684 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2098A>T (p.Thr700Ser) single nucleotide variant Inborn genetic diseases [RCV004976809] Chr20:50892616 [GRCh38]
Chr20:49509153 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.3050C>T (p.Ala1017Val) single nucleotide variant Inborn genetic diseases [RCV004976810] Chr20:50891664 [GRCh38]
Chr20:49508201 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2322T>G (p.Tyr774Ter) single nucleotide variant Inborn genetic diseases [RCV004976804] Chr20:50892392 [GRCh38]
Chr20:49508929 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.728A>G (p.Asp243Gly) single nucleotide variant Inborn genetic diseases [RCV004976806] Chr20:50893986 [GRCh38]
Chr20:49510523 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.201+1G>T single nucleotide variant Inborn genetic diseases [RCV004976803] Chr20:50902016 [GRCh38]
Chr20:49518553 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2166G>A (p.Met722Ile) single nucleotide variant Inborn genetic diseases [RCV004976807] Chr20:50892548 [GRCh38]
Chr20:49509085 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.2401G>A (p.Ala801Thr) single nucleotide variant Inborn genetic diseases [RCV004976793] Chr20:50892313 [GRCh38]
Chr20:49508850 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2852A>G (p.Asn951Ser) single nucleotide variant Inborn genetic diseases [RCV004976801]|not provided [RCV005110174] Chr20:50891862 [GRCh38]
Chr20:49508399 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2364G>A (p.Lys788=) single nucleotide variant not provided [RCV005175579] Chr20:50892350 [GRCh38]
Chr20:49508887 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.1601T>G (p.Val534Gly) single nucleotide variant not provided [RCV005173177] Chr20:50893113 [GRCh38]
Chr20:49509650 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1322C>A (p.Ser441Tyr) single nucleotide variant not provided [RCV005196879] Chr20:50893392 [GRCh38]
Chr20:49509929 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2033C>G (p.Ser678Ter) single nucleotide variant not provided [RCV005196624] Chr20:50892681 [GRCh38]
Chr20:49509218 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.3096C>T (p.Ser1032=) single nucleotide variant not provided [RCV005088167] Chr20:50891618 [GRCh38]
Chr20:49508155 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.794C>G (p.Ser265Cys) single nucleotide variant not provided [RCV005175865] Chr20:50893920 [GRCh38]
Chr20:49510457 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1204C>G (p.Leu402Val) single nucleotide variant not provided [RCV005146434] Chr20:50893510 [GRCh38]
Chr20:49510047 [GRCh37]
Chr20:20q13.13		 benign
NM_001282531.3(ADNP):c.403G>A (p.Ala135Thr) single nucleotide variant not provided [RCV005175252] Chr20:50894311 [GRCh38]
Chr20:49510848 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1137G>T (p.Gly379=) single nucleotide variant not provided [RCV005170908] Chr20:50893577 [GRCh38]
Chr20:49510114 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.1217A>T (p.Gln406Leu) single nucleotide variant not provided [RCV005195656] Chr20:50893497 [GRCh38]
Chr20:49510034 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1955C>T (p.Thr652Met) single nucleotide variant not provided [RCV005054665] Chr20:50892759 [GRCh38]
Chr20:49509296 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2330A>G (p.Lys777Arg) single nucleotide variant not provided [RCV005206428] Chr20:50892384 [GRCh38]
Chr20:49508921 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2487_2490del (p.Lys829fs) deletion not provided [RCV005131831] Chr20:50892224..50892227 [GRCh38]
Chr20:49508761..49508764 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.1528_1529insT (p.His510fs) insertion not provided [RCV005197326] Chr20:50893185..50893186 [GRCh38]
Chr20:49509722..49509723 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.2921G>A (p.Ser974Asn) single nucleotide variant not provided [RCV005157894] Chr20:50891793 [GRCh38]
Chr20:49508330 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1408A>G (p.Lys470Glu) single nucleotide variant not provided [RCV005199811] Chr20:50893306 [GRCh38]
Chr20:49509843 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.456_460del (p.Leu152_Lys153insTer) deletion not provided [RCV005201059] Chr20:50894254..50894258 [GRCh38]
Chr20:49510791..49510795 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.2582C>T (p.Thr861Ile) single nucleotide variant not provided [RCV005153138] Chr20:50892132 [GRCh38]
Chr20:49508669 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1599G>C (p.Met533Ile) single nucleotide variant not provided [RCV005161565] Chr20:50893115 [GRCh38]
Chr20:49509652 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.3286A>G (p.Lys1096Glu) single nucleotide variant not provided [RCV005134849] Chr20:50891428 [GRCh38]
Chr20:49507965 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1209A>C (p.Ser403=) single nucleotide variant not provided [RCV005157879] Chr20:50893505 [GRCh38]
Chr20:49510042 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.1486C>T (p.Arg496Cys) single nucleotide variant not provided [RCV005118803] Chr20:50893228 [GRCh38]
Chr20:49509765 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2029G>A (p.Ala677Thr) single nucleotide variant not provided [RCV005154914] Chr20:50892685 [GRCh38]
Chr20:49509222 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.3180_3181dup (p.Gln1061fs) duplication not provided [RCV005143736] Chr20:50891532..50891533 [GRCh38]
Chr20:49508069..49508070 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.3251T>C (p.Val1084Ala) single nucleotide variant not provided [RCV005125810] Chr20:50891463 [GRCh38]
Chr20:49508000 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2431_2432delinsAA (p.Cys811Asn) indel not provided [RCV005118758] Chr20:50892282..50892283 [GRCh38]
Chr20:49508819..49508820 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.903G>A (p.Gln301=) single nucleotide variant not provided [RCV005155732] Chr20:50893811 [GRCh38]
Chr20:49510348 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.201+11C>T single nucleotide variant not provided [RCV005180042] Chr20:50902006 [GRCh38]
Chr20:49518543 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.1065A>G (p.Ala355=) single nucleotide variant not provided [RCV005244689] Chr20:50893649 [GRCh38]
Chr20:49510186 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.191C>A (p.Thr64Lys) single nucleotide variant not provided [RCV005117272] Chr20:50902027 [GRCh38]
Chr20:49518564 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1739C>T (p.Ala580Val) single nucleotide variant not provided [RCV005119962] Chr20:50892975 [GRCh38]
Chr20:49509512 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2533C>T (p.Leu845=) single nucleotide variant not provided [RCV005199701] Chr20:50892181 [GRCh38]
Chr20:49508718 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.3283G>A (p.Val1095Ile) single nucleotide variant not provided [RCV005080784] Chr20:50891431 [GRCh38]
Chr20:49507968 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2343C>T (p.Pro781=) single nucleotide variant not provided [RCV005200111] Chr20:50892371 [GRCh38]
Chr20:49508908 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.2529G>A (p.Glu843=) single nucleotide variant not provided [RCV005119166] Chr20:50892185 [GRCh38]
Chr20:49508722 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.1319C>G (p.Thr440Ser) single nucleotide variant not provided [RCV005140741] Chr20:50893395 [GRCh38]
Chr20:49509932 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.937A>G (p.Asn313Asp) single nucleotide variant not provided [RCV005132809] Chr20:50893777 [GRCh38]
Chr20:49510314 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.942_946del (p.Leu314fs) deletion not provided [RCV005135916] Chr20:50893768..50893772 [GRCh38]
Chr20:49510305..49510309 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.2436C>T (p.Val812=) single nucleotide variant not provided [RCV005156080] Chr20:50892278 [GRCh38]
Chr20:49508815 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.3241A>T (p.Thr1081Ser) single nucleotide variant not provided [RCV005166073] Chr20:50891473 [GRCh38]
Chr20:49508010 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2256A>G (p.Leu752=) single nucleotide variant not provided [RCV005122297] Chr20:50892458 [GRCh38]
Chr20:49508995 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.119A>G (p.Gln40Arg) single nucleotide variant not provided [RCV005139527] Chr20:50902099 [GRCh38]
Chr20:49518636 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.1776G>A (p.Lys592=) single nucleotide variant not provided [RCV005111112] Chr20:50892938 [GRCh38]
Chr20:49509475 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.3213_3214del (p.Ser1071fs) deletion not provided [RCV005122927] Chr20:50891500..50891501 [GRCh38]
Chr20:49508037..49508038 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.1190C>T (p.Ala397Val) single nucleotide variant not provided [RCV005182700] Chr20:50893524 [GRCh38]
Chr20:49510061 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.533A>T (p.Glu178Val) single nucleotide variant not provided [RCV005126300] Chr20:50894181 [GRCh38]
Chr20:49510718 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2317_2318del (p.Lys773fs) deletion not provided [RCV005179326] Chr20:50892396..50892397 [GRCh38]
Chr20:49508933..49508934 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_001282531.3(ADNP):c.2915C>T (p.Ser972Phe) single nucleotide variant not provided [RCV005177824] Chr20:50891799 [GRCh38]
Chr20:49508336 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.202-13G>C single nucleotide variant not provided [RCV005151122] Chr20:50894525 [GRCh38]
Chr20:49511062 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.661A>G (p.Ile221Val) single nucleotide variant not provided [RCV005154506] Chr20:50894053 [GRCh38]
Chr20:49510590 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.924A>G (p.Ser308=) single nucleotide variant not provided [RCV005153426] Chr20:50893790 [GRCh38]
Chr20:49510327 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.2553G>T (p.Glu851Asp) single nucleotide variant not provided [RCV005199189] Chr20:50892161 [GRCh38]
Chr20:49508698 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.1089T>C (p.Ser363=) single nucleotide variant not provided [RCV005183218] Chr20:50893625 [GRCh38]
Chr20:49510162 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.3252A>G (p.Val1084=) single nucleotide variant not provided [RCV005148099] Chr20:50891462 [GRCh38]
Chr20:49507999 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.1659A>T (p.Thr553=) single nucleotide variant not provided [RCV005153699] Chr20:50893055 [GRCh38]
Chr20:49509592 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.702A>G (p.Glu234=) single nucleotide variant not provided [RCV005199618] Chr20:50894012 [GRCh38]
Chr20:49510549 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.988A>T (p.Asn330Tyr) single nucleotide variant not provided [RCV005251760] Chr20:50893726 [GRCh38]
Chr20:49510263 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.152C>T (p.Thr51Ile) single nucleotide variant not provided [RCV005254468] Chr20:50902066 [GRCh38]
Chr20:49518603 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2502C>G (p.Val834=) single nucleotide variant not provided [RCV005425251] Chr20:50892212 [GRCh38]
Chr20:49508749 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.3236dup (p.Asn1079fs) duplication ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV005415922] Chr20:50891477..50891478 [GRCh38]
Chr20:49508014..49508015 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.338C>T (p.Thr113Ile) single nucleotide variant not provided [RCV005410392] Chr20:50894376 [GRCh38]
Chr20:49510913 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2278dup (p.Glu760fs) duplication ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV005411164] Chr20:50892435..50892436 [GRCh38]
Chr20:49508972..49508973 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_001282531.3(ADNP):c.1676A>T (p.His559Leu) single nucleotide variant not specified [RCV005409150] Chr20:50893038 [GRCh38]
Chr20:49509575 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2934C>G (p.Ser978=) single nucleotide variant not provided [RCV005428683] Chr20:50891780 [GRCh38]
Chr20:49508317 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.2277T>C (p.His759=) single nucleotide variant not provided [RCV005413971] Chr20:50892437 [GRCh38]
Chr20:49508974 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.9A>T (p.Gln3His) single nucleotide variant not provided [RCV005256216] Chr20:50903988 [GRCh38]
Chr20:49520525 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2773G>A (p.Glu925Lys) single nucleotide variant ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder [RCV003141220] Chr20:50891941 [GRCh38]
Chr20:49508478 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.3280G>A (p.Gly1094Arg) single nucleotide variant not provided [RCV003708769]|not specified [RCV003331754] Chr20:50891434 [GRCh38]
Chr20:49507971 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.329C>G (p.Pro110Arg) single nucleotide variant not provided [RCV005251723] Chr20:50894385 [GRCh38]
Chr20:49510922 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.2762C>T (p.Ser921Leu) single nucleotide variant Inborn genetic diseases [RCV005325329] Chr20:50891952 [GRCh38]
Chr20:49508489 [GRCh37]
Chr20:20q13.13		 likely benign
NM_001282531.3(ADNP):c.2246C>T (p.Pro749Leu) single nucleotide variant Inborn genetic diseases [RCV005325334] Chr20:50892468 [GRCh38]
Chr20:49509005 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_001282531.3(ADNP):c.817C>T (p.Pro273Ser) single nucleotide variant Inborn genetic diseases [RCV005325343] Chr20:50893897 [GRCh38]
Chr20:49510434 [GRCh37]
Chr20:20q13.13		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:2873
Count of miRNA genes:733
Interacting mature miRNAs:821
Transcripts:ENST00000349014, ENST00000371602, ENST00000396029, ENST00000396032, ENST00000534467
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2292864PRSTS43_HProstate tumor susceptibility QTL 43 (human)0.620.05Prostate tumor susceptibility204730303964444167Human
407048775GWAS697751_Hprostate carcinoma QTL GWAS697751 (human)0.0000002prostate integrity trait (VT:0010571)205091138550911386Human
597156850GWAS1252924_Hsex hormone-binding globulin measurement QTL GWAS1252924 (human)2e-11sex hormone-binding globulin measurement205092438850924389Human
597247253GWAS1343327_Hage at menopause QTL GWAS1343327 (human)2e-09estrous cycle trait (VT:0001927)205089805250898053Human
407048462GWAS697438_Hprostate carcinoma QTL GWAS697438 (human)5e-11prostate integrity trait (VT:0010571)205091138550911386Human
597320021GWAS1416095_Hsmoking initiation QTL GWAS1416095 (human)1e-10behavior trait (VT:0010442)205090855250908553Human
1300007BP29_HBlood pressure QTL 29 (human)Blood pressurehypertension susceptibility203653600562536005Human
597105698GWAS1201772_Hsex hormone-binding globulin measurement QTL GWAS1201772 (human)4e-15sex hormone-binding globulin measurement205092438850924389Human
597145538GWAS1241612_Hsmoking initiation QTL GWAS1241612 (human)1e-11behavior trait (VT:0010442)205090855250908553Human
597156161GWAS1252235_Hsex hormone-binding globulin measurement QTL GWAS1252235 (human)0.0000001sex hormone-binding globulin measurement205092438850924389Human
597096737GWAS1192811_Hsex hormone-binding globulin measurement QTL GWAS1192811 (human)3e-10sex hormone-binding globulin measurement205092438850924389Human
597247041GWAS1343115_Hage at menopause QTL GWAS1343115 (human)5e-08estrous cycle trait (VT:0001927)205089805250898053Human
597166279GWAS1262353_Hsex hormone-binding globulin measurement QTL GWAS1262353 (human)1e-10sex hormone-binding globulin measurement205092438850924389Human

Markers in Region
RH68738  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372049,506,459 - 49,506,625UniSTSGRCh37
Build 362048,939,866 - 48,940,032RGDNCBI36
Celera2046,210,720 - 46,210,886RGD
Cytogenetic Map20q13.13UniSTS
HuRef2046,254,858 - 46,255,024UniSTS
GeneMap99-GB4 RH Map20309.05UniSTS
NCBI RH Map20525.8UniSTS
D1S1984E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372049,508,216 - 49,508,367UniSTSGRCh37
Build 362048,941,623 - 48,941,774RGDNCBI36
Celera2046,212,476 - 46,212,627RGD
Cytogenetic Map20q13.13UniSTS
HuRef2046,256,616 - 46,256,767UniSTS
D20S689  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372049,508,943 - 49,509,052UniSTSGRCh37
Build 362048,942,350 - 48,942,459RGDNCBI36
Celera2046,213,203 - 46,213,312RGD
Cytogenetic Map20q13.13UniSTS
HuRef2046,257,343 - 46,257,452UniSTS
D20S772  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372049,506,958 - 49,507,067UniSTSGRCh37
Build 362048,940,365 - 48,940,474RGDNCBI36
Celera2046,211,218 - 46,211,327RGD
Cytogenetic Map20q13.13UniSTS
HuRef2046,255,358 - 46,255,467UniSTS
GeneMap99-GB4 RH Map20294.0UniSTS
NCBI RH Map20514.9UniSTS
SHGC-36586  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372049,506,911 - 49,507,016UniSTSGRCh37
Build 362048,940,318 - 48,940,423RGDNCBI36
Celera2046,211,171 - 46,211,276RGD
Cytogenetic Map20q13.13UniSTS
HuRef2046,255,311 - 46,255,416UniSTS
Stanford-G3 RH Map202500.0UniSTS
NCBI RH Map20524.7UniSTS
GeneMap99-G3 RH Map202533.0UniSTS
Z94544  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372049,537,308 - 49,537,433UniSTSGRCh37
Build 362048,970,715 - 48,970,840RGDNCBI36
Celera2046,241,568 - 46,241,693RGD
Cytogenetic Map20q13.13UniSTS
HuRef2046,285,709 - 46,285,834UniSTS
RH11804  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372049,507,002 - 49,507,141UniSTSGRCh37
Build 362048,940,409 - 48,940,548RGDNCBI36
Celera2046,211,262 - 46,211,401RGD
Cytogenetic Map20q13.13UniSTS
HuRef2046,255,402 - 46,255,541UniSTS
GeneMap99-GB4 RH Map20309.05UniSTS
NCBI RH Map20525.8UniSTS
SHGC-52475  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372049,546,398 - 49,546,643UniSTSGRCh37
Build 362048,979,805 - 48,980,050RGDNCBI36
Celera2046,250,658 - 46,250,903RGD
Cytogenetic Map20q13.13UniSTS
HuRef2046,294,799 - 46,295,044UniSTS
TNG Radiation Hybrid Map2022670.0UniSTS
GeneMap99-G3 RH Map202535.0UniSTS
SHGC-57240  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372049,509,083 - 49,509,175UniSTSGRCh37
Build 362048,942,490 - 48,942,582RGDNCBI36
Celera2046,213,343 - 46,213,435RGD
Cytogenetic Map20q13.13UniSTS
HuRef2046,257,483 - 46,257,575UniSTS
D20S953  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372049,506,915 - 49,507,054UniSTSGRCh37
Build 362048,940,322 - 48,940,461RGDNCBI36
Celera2046,211,175 - 46,211,314RGD
Cytogenetic Map20q13.13UniSTS
HuRef2046,255,315 - 46,255,454UniSTS
GeneMap99-GB4 RH Map20303.49UniSTS
Whitehead-RH Map20323.9UniSTS
Whitehead-YAC Contig Map20 UniSTS
D20S560E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372049,516,492 - 49,516,639UniSTSGRCh37
Build 362048,949,899 - 48,950,046RGDNCBI36
Celera2046,220,752 - 46,220,899RGD
Cytogenetic Map20q13.13UniSTS
HuRef2046,264,892 - 46,265,039UniSTS
GeneMap99-GB4 RH Map20303.49UniSTS
RH69297  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372049,519,232 - 49,519,437UniSTSGRCh37
Build 362048,952,639 - 48,952,844RGDNCBI36
Celera2046,223,492 - 46,223,697RGD
Cytogenetic Map20q13.13UniSTS
HuRef2046,267,631 - 46,267,836UniSTS
GeneMap99-GB4 RH Map20309.15UniSTS
NCBI RH Map20525.8UniSTS
RH18366  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372049,517,439 - 49,517,573UniSTSGRCh37
Build 362048,950,846 - 48,950,980RGDNCBI36
Celera2046,221,699 - 46,221,833RGD
Cytogenetic Map20q13.13UniSTS
HuRef2046,265,839 - 46,265,973UniSTS
GeneMap99-GB4 RH Map20309.15UniSTS
ADNP__4259  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372049,506,837 - 49,507,737UniSTSGRCh37
Build 362048,940,244 - 48,941,144RGDNCBI36
Celera2046,211,097 - 46,211,997RGD
HuRef2046,255,237 - 46,256,137UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4973 1726 2351 6 624 1951 465 2269 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_034200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001347511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001439000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001439001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_181442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB018327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF250860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL034553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL080163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW452644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX081465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC075794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC090933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM998017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR006081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR006382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000349014   ⟹   ENSP00000342905
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2050,890,349 - 50,909,791 (-)Ensembl
Ensembl Acc Id: ENST00000371602   ⟹   ENSP00000360662
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2050,888,916 - 50,905,558 (-)Ensembl
Ensembl Acc Id: ENST00000396029   ⟹   ENSP00000379346
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2050,889,048 - 50,931,375 (-)Ensembl
Ensembl Acc Id: ENST00000396032   ⟹   ENSP00000379349
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2050,890,336 - 50,931,421 (-)Ensembl
Ensembl Acc Id: ENST00000621696   ⟹   ENSP00000483881
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2050,888,918 - 50,931,437 (-)Ensembl
Ensembl Acc Id: ENST00000642364
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2050,894,063 - 50,928,735 (-)Ensembl
Ensembl Acc Id: ENST00000644386   ⟹   ENSP00000493755
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2050,889,048 - 50,928,732 (-)Ensembl
Ensembl Acc Id: ENST00000645081   ⟹   ENSP00000495540
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2050,890,372 - 50,931,364 (-)Ensembl
Ensembl Acc Id: ENST00000673732   ⟹   ENSP00000501294
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2050,888,918 - 50,931,437 (-)Ensembl
RefSeq Acc Id: NM_001282531   ⟹   NP_001269460
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382050,888,918 - 50,931,437 (-)NCBI
HuRef2046,253,854 - 46,295,816 (-)NCBI
CHM1_12049,410,848 - 49,452,793 (-)NCBI
T2T-CHM13v2.02052,659,514 - 52,702,036 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001282532   ⟹   NP_001269461
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382050,888,918 - 50,909,791 (-)NCBI
HuRef2046,253,854 - 46,295,816 (-)NCBI
CHM1_12049,410,848 - 49,431,730 (-)NCBI
T2T-CHM13v2.02052,659,514 - 52,680,385 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001347511   ⟹   NP_001334440
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382050,888,918 - 50,931,437 (-)NCBI
T2T-CHM13v2.02052,659,514 - 52,702,036 (-)NCBI
Sequence:
RefSeq Acc Id: NM_015339   ⟹   NP_056154
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382050,888,918 - 50,931,437 (-)NCBI
GRCh372049,505,585 - 49,547,527 (-)NCBI
Build 362048,940,290 - 48,980,934 (-)NCBI Archive
Celera2046,211,143 - 46,251,787 (-)RGD
HuRef2046,253,854 - 46,295,816 (-)NCBI
CHM1_12049,410,848 - 49,452,793 (-)NCBI
T2T-CHM13v2.02052,659,514 - 52,702,036 (-)NCBI
Sequence:
RefSeq Acc Id: NM_181442   ⟹   NP_852107
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382050,888,918 - 50,931,437 (-)NCBI
GRCh372049,505,585 - 49,547,527 (-)NCBI
Build 362048,940,290 - 48,980,934 (-)NCBI Archive
Celera2046,211,143 - 46,251,787 (-)RGD
HuRef2046,253,854 - 46,295,816 (-)NCBI
CHM1_12049,410,848 - 49,452,793 (-)NCBI
T2T-CHM13v2.02052,659,514 - 52,702,036 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011528747   ⟹   XP_011527049
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382050,888,918 - 50,930,337 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011528748   ⟹   XP_011527050
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382050,888,918 - 50,919,256 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047440074   ⟹   XP_047296030
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382050,888,918 - 50,931,437 (-)NCBI
RefSeq Acc Id: XM_047440075   ⟹   XP_047296031
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382050,888,918 - 50,930,337 (-)NCBI
RefSeq Acc Id: XM_047440076   ⟹   XP_047296032
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382050,888,918 - 50,930,337 (-)NCBI
RefSeq Acc Id: XM_047440077   ⟹   XP_047296033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382050,888,918 - 50,931,437 (-)NCBI
RefSeq Acc Id: XM_047440078   ⟹   XP_047296034
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382050,888,918 - 50,931,437 (-)NCBI
RefSeq Acc Id: XM_054323292   ⟹   XP_054179267
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02052,659,514 - 52,700,934 (-)NCBI
RefSeq Acc Id: XM_054323293   ⟹   XP_054179268
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02052,659,514 - 52,702,036 (-)NCBI
RefSeq Acc Id: XM_054323294   ⟹   XP_054179269
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02052,659,514 - 52,689,855 (-)NCBI
RefSeq Acc Id: XM_054323295   ⟹   XP_054179270
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02052,659,514 - 52,700,934 (-)NCBI
RefSeq Acc Id: XM_054323296   ⟹   XP_054179271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02052,659,514 - 52,700,934 (-)NCBI
RefSeq Acc Id: XM_054323297   ⟹   XP_054179272
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02052,659,514 - 52,702,036 (-)NCBI
RefSeq Acc Id: XM_054323298   ⟹   XP_054179273
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02052,659,514 - 52,702,036 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001269460 (Get FASTA)   NCBI Sequence Viewer  
  NP_001269461 (Get FASTA)   NCBI Sequence Viewer  
  NP_001334440 (Get FASTA)   NCBI Sequence Viewer  
  NP_001425929 (Get FASTA)   NCBI Sequence Viewer  
  NP_001425930 (Get FASTA)   NCBI Sequence Viewer  
  NP_056154 (Get FASTA)   NCBI Sequence Viewer  
  NP_852107 (Get FASTA)   NCBI Sequence Viewer  
  XP_011527049 (Get FASTA)   NCBI Sequence Viewer  
  XP_011527050 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296030 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296031 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296032 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296033 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296034 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179267 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179268 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179269 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179270 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179271 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179272 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179273 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAG47651 (Get FASTA)   NCBI Sequence Viewer  
  AAH75794 (Get FASTA)   NCBI Sequence Viewer  
  AAH90933 (Get FASTA)   NCBI Sequence Viewer  
  BAA34504 (Get FASTA)   NCBI Sequence Viewer  
  BAG37275 (Get FASTA)   NCBI Sequence Viewer  
  CAB45752 (Get FASTA)   NCBI Sequence Viewer  
  CAC33127 (Get FASTA)   NCBI Sequence Viewer  
  EAW75611 (Get FASTA)   NCBI Sequence Viewer  
  EAW75612 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000342905
  ENSP00000342905.3
  ENSP00000360662.2
  ENSP00000379346
  ENSP00000379346.3
  ENSP00000379349
  ENSP00000379349.2
  ENSP00000483881
  ENSP00000483881.1
  ENSP00000495540
  ENSP00000501294
GenBank Protein Q9H2P0 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_852107   ⟸   NM_181442
- UniProtKB: Q5BKU2 (UniProtKB/Swiss-Prot),   O94881 (UniProtKB/Swiss-Prot),   E1P5Y2 (UniProtKB/Swiss-Prot),   Q9UG34 (UniProtKB/Swiss-Prot),   Q9H2P0 (UniProtKB/Swiss-Prot),   B2RBM8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_056154   ⟸   NM_015339
- UniProtKB: Q5BKU2 (UniProtKB/Swiss-Prot),   O94881 (UniProtKB/Swiss-Prot),   E1P5Y2 (UniProtKB/Swiss-Prot),   Q9UG34 (UniProtKB/Swiss-Prot),   Q9H2P0 (UniProtKB/Swiss-Prot),   B2RBM8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269460   ⟸   NM_001282531
- UniProtKB: Q5BKU2 (UniProtKB/Swiss-Prot),   O94881 (UniProtKB/Swiss-Prot),   E1P5Y2 (UniProtKB/Swiss-Prot),   Q9UG34 (UniProtKB/Swiss-Prot),   Q9H2P0 (UniProtKB/Swiss-Prot),   B2RBM8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269461   ⟸   NM_001282532
- UniProtKB: Q5BKU2 (UniProtKB/Swiss-Prot),   O94881 (UniProtKB/Swiss-Prot),   E1P5Y2 (UniProtKB/Swiss-Prot),   Q9UG34 (UniProtKB/Swiss-Prot),   Q9H2P0 (UniProtKB/Swiss-Prot),   B2RBM8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011527049   ⟸   XM_011528747
- Peptide Label: isoform X1
- UniProtKB: A0A669KBJ7 (UniProtKB/TrEMBL),   B2RBM8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011527050   ⟸   XM_011528748
- Peptide Label: isoform X2
- UniProtKB: B2RBM8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001334440   ⟸   NM_001347511
- UniProtKB: Q5BKU2 (UniProtKB/Swiss-Prot),   O94881 (UniProtKB/Swiss-Prot),   E1P5Y2 (UniProtKB/Swiss-Prot),   Q9UG34 (UniProtKB/Swiss-Prot),   Q9H2P0 (UniProtKB/Swiss-Prot),   B2RBM8 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000501294   ⟸   ENST00000673732
Ensembl Acc Id: ENSP00000483881   ⟸   ENST00000621696
Ensembl Acc Id: ENSP00000360662   ⟸   ENST00000371602
Ensembl Acc Id: ENSP00000342905   ⟸   ENST00000349014
Ensembl Acc Id: ENSP00000493755   ⟸   ENST00000644386
Ensembl Acc Id: ENSP00000495540   ⟸   ENST00000645081
Ensembl Acc Id: ENSP00000379346   ⟸   ENST00000396029
Ensembl Acc Id: ENSP00000379349   ⟸   ENST00000396032
RefSeq Acc Id: XP_047296034   ⟸   XM_047440078
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047296030   ⟸   XM_047440074
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047296033   ⟸   XM_047440077
- Peptide Label: isoform X3
- UniProtKB: Q9H2P0 (UniProtKB/Swiss-Prot),   Q5BKU2 (UniProtKB/Swiss-Prot),   O94881 (UniProtKB/Swiss-Prot),   E1P5Y2 (UniProtKB/Swiss-Prot),   Q9UG34 (UniProtKB/Swiss-Prot),   B2RBM8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047296031   ⟸   XM_047440075
- Peptide Label: isoform X3
- UniProtKB: Q9H2P0 (UniProtKB/Swiss-Prot),   Q5BKU2 (UniProtKB/Swiss-Prot),   O94881 (UniProtKB/Swiss-Prot),   E1P5Y2 (UniProtKB/Swiss-Prot),   Q9UG34 (UniProtKB/Swiss-Prot),   B2RBM8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047296032   ⟸   XM_047440076
- Peptide Label: isoform X3
- UniProtKB: Q9H2P0 (UniProtKB/Swiss-Prot),   Q5BKU2 (UniProtKB/Swiss-Prot),   O94881 (UniProtKB/Swiss-Prot),   E1P5Y2 (UniProtKB/Swiss-Prot),   Q9UG34 (UniProtKB/Swiss-Prot),   B2RBM8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054179273   ⟸   XM_054323298
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054179268   ⟸   XM_054323293
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054179272   ⟸   XM_054323297
- Peptide Label: isoform X3
- UniProtKB: Q9H2P0 (UniProtKB/Swiss-Prot),   Q5BKU2 (UniProtKB/Swiss-Prot),   O94881 (UniProtKB/Swiss-Prot),   E1P5Y2 (UniProtKB/Swiss-Prot),   Q9UG34 (UniProtKB/Swiss-Prot),   B2RBM8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054179270   ⟸   XM_054323295
- Peptide Label: isoform X3
- UniProtKB: Q9H2P0 (UniProtKB/Swiss-Prot),   Q5BKU2 (UniProtKB/Swiss-Prot),   O94881 (UniProtKB/Swiss-Prot),   E1P5Y2 (UniProtKB/Swiss-Prot),   Q9UG34 (UniProtKB/Swiss-Prot),   B2RBM8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054179271   ⟸   XM_054323296
- Peptide Label: isoform X3
- UniProtKB: Q9H2P0 (UniProtKB/Swiss-Prot),   Q5BKU2 (UniProtKB/Swiss-Prot),   O94881 (UniProtKB/Swiss-Prot),   E1P5Y2 (UniProtKB/Swiss-Prot),   Q9UG34 (UniProtKB/Swiss-Prot),   B2RBM8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054179267   ⟸   XM_054323292
- Peptide Label: isoform X1
- UniProtKB: A0A669KBJ7 (UniProtKB/TrEMBL),   B2RBM8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054179269   ⟸   XM_054323294
- Peptide Label: isoform X2
- UniProtKB: B2RBM8 (UniProtKB/TrEMBL)
Protein Domains
ADNP zinc finger   C2H2-type   Homeobox

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H2P0-F1-model_v2 AlphaFold Q9H2P0 1-1102 view protein structure

Promoters
RGD ID:6798671
Promoter ID:HG_KWN:39823
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000349014
Position:
Human AssemblyChrPosition (strand)Source
Build 362048,959,486 - 48,959,986 (-)MPROMDB
RGD ID:6812043
Promoter ID:HG_ACW:49681
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ADNP.DAPR07,   ADNP.EAPR07-UNSPLICED,   FLAVEY.AAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 362048,979,196 - 48,979,696 (-)MPROMDB
RGD ID:6798514
Promoter ID:HG_KWN:39824
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_181442,   OTTHUMT00000079705
Position:
Human AssemblyChrPosition (strand)Source
Build 362048,980,791 - 48,981,677 (-)MPROMDB
RGD ID:13207299
Promoter ID:EPDNEW_H27230
Type:initiation region
Name:ADNP_3
Description:activity dependent neuroprotector homeobox
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27231  EPDNEW_H27232  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382050,905,555 - 50,905,615EPDNEW
RGD ID:13207301
Promoter ID:EPDNEW_H27231
Type:initiation region
Name:ADNP_2
Description:activity dependent neuroprotector homeobox
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27230  EPDNEW_H27232  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382050,931,168 - 50,931,228EPDNEW
RGD ID:13207305
Promoter ID:EPDNEW_H27232
Type:initiation region
Name:ADNP_1
Description:activity dependent neuroprotector homeobox
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27230  EPDNEW_H27231  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382050,931,437 - 50,931,497EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15766 AgrOrtholog
COSMIC ADNP COSMIC
Ensembl Genes ENSG00000101126 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000349014 ENTREZGENE
  ENST00000349014.8 UniProtKB/Swiss-Prot
  ENST00000371602.9 UniProtKB/Swiss-Prot
  ENST00000396029 ENTREZGENE
  ENST00000396029.8 UniProtKB/Swiss-Prot
  ENST00000396032 ENTREZGENE
  ENST00000396032.8 UniProtKB/Swiss-Prot
  ENST00000621696 ENTREZGENE
  ENST00000621696.5 UniProtKB/Swiss-Prot
  ENST00000645081 ENTREZGENE
  ENST00000673732 ENTREZGENE
Gene3D-CATH Classic Zinc Finger UniProtKB/Swiss-Prot
  Homeodomain-like UniProtKB/Swiss-Prot
GTEx ENSG00000101126 GTEx
HGNC ID HGNC:15766 ENTREZGENE
Human Proteome Map ADNP Human Proteome Map
InterPro ADNP/ADNP2 UniProtKB/Swiss-Prot
  ADNP_Znf UniProtKB/Swiss-Prot
  Homeobox-like_sf UniProtKB/Swiss-Prot
  Homeobox_dom UniProtKB/Swiss-Prot
  Znf_C2H2_type UniProtKB/Swiss-Prot
KEGG Report hsa:23394 UniProtKB/Swiss-Prot
NCBI Gene 23394 ENTREZGENE
OMIM 611386 OMIM
PANTHER ACTIVITY-DEPENDENT NEUROPROTECTOR HOMEOBOX PROTEIN UniProtKB/Swiss-Prot
  PTHR15740 UniProtKB/Swiss-Prot
Pfam ADNP_N UniProtKB/Swiss-Prot
  Homeodomain UniProtKB/Swiss-Prot
PharmGKB PA24582 PharmGKB
PROSITE HOMEOBOX_2 UniProtKB/Swiss-Prot
  ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot
SMART HOX UniProtKB/Swiss-Prot
  ZnF_C2H2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF46689 UniProtKB/Swiss-Prot
UniProt A0A2R8Y6X0 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R8YCL6_HUMAN UniProtKB/TrEMBL
  A0A669KBJ7 ENTREZGENE, UniProtKB/TrEMBL
  ADNP_HUMAN UniProtKB/Swiss-Prot
  B2RBM8 ENTREZGENE, UniProtKB/TrEMBL
  E1P5Y2 ENTREZGENE
  O94881 ENTREZGENE
  Q5BKU2 ENTREZGENE
  Q6DHZ8_HUMAN UniProtKB/TrEMBL
  Q9H2P0 ENTREZGENE
  Q9UG34 ENTREZGENE
UniProt Secondary E1P5Y2 UniProtKB/Swiss-Prot
  O94881 UniProtKB/Swiss-Prot
  Q5BKU2 UniProtKB/Swiss-Prot
  Q9UG34 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-21 ADNP  activity dependent neuroprotector homeobox  ADNP  activity-dependent neuroprotector homeobox  Symbol and/or name change 5135510 APPROVED