ASXL1 (ASXL transcriptional regulator 1) - Rat Genome Database

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Gene: ASXL1 (ASXL transcriptional regulator 1) Homo sapiens
Analyze
Symbol: ASXL1
Name: ASXL transcriptional regulator 1
RGD ID: 1344611
HGNC Page HGNC
Description: Predicted to enable several functions, including peroxisome proliferator activated receptor binding activity; retinoic acid receptor binding activity; and transcription coactivator activity. Involved in monoubiquitinated histone H2A deubiquitination. Part of PR-DUB complex. Implicated in SM-AHNMD; acute myeloid leukemia; chronic myelomonocytic leukemia; myelodysplastic syndrome; and myelofibrosis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: additional sex combs like 1; additional sex combs like 1, transcriptional regulator; additional sex combs like transcriptional regulator 1; additional sex combs-like protein 1; BOPS; KIAA0978; MDS; MGC117280; MGC71111; polycomb group protein ASXL1; putative Polycomb group protein ASXL1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2032,358,330 - 32,439,319 (+)EnsemblGRCh38hg38GRCh38
GRCh382032,358,062 - 32,439,319 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372030,946,134 - 31,027,122 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362030,409,814 - 30,490,783 (+)NCBINCBI36hg18NCBI36
Build 342030,409,820 - 30,490,783NCBI
Celera2027,702,183 - 27,783,146 (+)NCBI
Cytogenetic Map20q11.21NCBI
HuRef2027,742,560 - 27,816,603 (+)NCBIHuRef
CHM1_12030,850,605 - 30,932,052 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
nucleoplasm  (TAS)
nucleus  (IEA)
PR-DUB complex  (IBA,IDA,IPI)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal cramps  (IAGP)
Abdominal pain  (IAGP)
Abnormal blistering of the skin  (IAGP)
Abnormal cardiac septum morphology  (IAGP)
Abnormal corpus callosum morphology  (IAGP)
Abnormal mast cell morphology  (IAGP)
Abnormality of brain morphology  (IAGP)
Abnormality of the optic nerve  (IAGP)
Abnormality of the respiratory system  (IAGP)
Acute myeloid leukemia  (IAGP)
Agenesis of corpus callosum  (IAGP)
Amyloidosis  (IAGP)
Anaphylactic shock  (IAGP)
Anemia  (IAGP)
Annular pancreas  (IAGP)
Anorexia  (IAGP)
Anteverted nares  (IAGP)
Arthralgia  (IAGP)
Ascites  (IAGP)
Atrial septal defect  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bilateral wrist flexion contracture  (IAGP)
Bone marrow hypercellularity  (IAGP)
Bone pain  (IAGP)
Bradycardia  (IAGP)
Broad alveolar ridges  (IAGP)
Broad palm  (IAGP)
Cafe-au-lait spot  (IAGP)
Camptodactyly  (IAGP)
Cardiomegaly  (IAGP)
Cholelithiasis  (IAGP)
Chronic lymphatic leukemia  (IAGP)
Chronic myelomonocytic leukemia  (IAGP)
Cleft lip  (IAGP)
Cleft palate  (IAGP)
Cleft upper lip  (IAGP)
Coloboma  (IAGP)
Congenital contracture  (IAGP)
Dandy-Walker malformation  (IAGP)
Decreased liver function  (IAGP)
Deep palmar crease  (IAGP)
Deep plantar creases  (IAGP)
Delayed gross motor development  (IAGP)
Delayed myelination  (IAGP)
Delayed peripheral myelination  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Diarrhea  (IAGP)
Dislocated radial head  (IAGP)
Elevated circulating alkaline phosphatase concentration  (IAGP)
Elevated total serum tryptase  (IAGP)
Eosinophilia  (IAGP)
Facial hemangioma  (IAGP)
Facial hypotonia  (IAGP)
Failure to thrive  (IAGP)
Fatigue  (IAGP)
Feeding difficulties  (IAGP)
Feeding difficulties in infancy  (IAGP)
Fever  (IAGP)
Fixed elbow flexion  (IAGP)
Flushing  (IAGP)
Food intolerance  (IAGP)
Full cheeks  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Generalized hypotonia  (IAGP)
Glabellar hemangioma  (IAGP)
Global developmental delay  (IAGP)
Granulocytic hyperplasia  (IAGP)
Gray matter heterotopia  (IAGP)
Happy demeanor  (IAGP)
Headache  (IAGP)
Hepatomegaly  (IAGP)
Hepatosplenomegaly  (IAGP)
High myopia  (IAGP)
Hirsutism  (IAGP)
Hyperechogenic pancreas  (IAGP)
Hypersplenism  (IAGP)
Hypertelorism  (IAGP)
Hypertrichosis  (IAGP)
Hypoplasia of the brainstem  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypotension  (IAGP)
Hypotonia  (IAGP)
Inability to walk  (IAGP)
Increased basophil count  (IAGP)
Increased proportion of CD25+ mast cells  (IAGP)
Increased susceptibility to fractures  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, profound  (IAGP)
Intellectual disability, severe  (IAGP)
Intestinal malrotation  (IAGP)
Intrauterine growth retardation  (IAGP)
Joint dislocation  (IAGP)
Juvenile myelomonocytic leukemia  (IAGP)
Leukemia  (IAGP)
Leukocytosis  (IAGP)
Long face  (IAGP)
Low anterior hairline  (IAGP)
Low-set ears  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Lower limb hypertonia  (IAGP)
Lymphadenopathy  (IAGP)
Lymphoma  (IAGP)
Maculopapular exanthema  (IAGP)
Malabsorption  (IAGP)
Medulloblastoma  (IAGP)
Mesomelic/rhizomelic limb shortening  (IAGP)
Metacarpophalangeal joint contracture  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Monocytosis  (IAGP)
Multiple myeloma  (IAGP)
Muscular hypotonia of the trunk  (IAGP)
Myalgia  (IAGP)
Myelodysplasia  (IAGP)
Myeloproliferative disorder  (IAGP)
Myopia  (IAGP)
Naevus flammeus of the eyelid  (IAGP)
Narrow forehead  (IAGP)
Narrow palate  (IAGP)
Nausea  (IAGP)
Nephroblastoma  (IAGP)
Neurodevelopmental abnormality  (IAGP)
Neutropenia  (IAGP)
Neutrophilia  (IAGP)
Nevus flammeus  (IAGP)
Normochromic anemia  (IAGP)
Normocytic anemia  (IAGP)
Obstructive sleep apnea  (IAGP)
Optic atrophy  (IAGP)
Osteolysis  (IAGP)
Osteoporosis  (IAGP)
Overlapping toe  (IAGP)
Pallor  (IAGP)
Pancytopenia  (IAGP)
Pathologic fracture  (IAGP)
Pectus excavatum  (IAGP)
Peptic ulcer  (IAGP)
Polyhydramnios  (IAGP)
Portal hypertension  (IAGP)
Posteriorly rotated ears  (IAGP)
Prominent forehead  (IAGP)
Prominent metopic ridge  (IAGP)
Prominent palatine ridges  (IAGP)
Proptosis  (IAGP)
Pruritus  (IAGP)
Recurrent respiratory infections  (IAGP)
Retinal atrophy  (IAGP)
Retrognathia  (IAGP)
Sacral dimple  (IAGP)
Seizure  (IAGP)
Severe expressive language delay  (IAGP)
Severe failure to thrive  (IAGP)
Short stature  (IAGP)
Short toe  (IAGP)
Small for gestational age  (IAGP)
Somatic mutation  (IAGP)
Splenomegaly  (IAGP)
Strabismus  (IAGP)
Supernumerary nipple  (IAGP)
Syncope  (IAGP)
Syndactyly  (IAGP)
Synophrys  (IAGP)
Tachycardia  (IAGP)
Tapered finger  (IAGP)
Thick hair  (IAGP)
Thrombocytopenia  (IAGP)
Trigonocephaly  (IAGP)
Ulnar deviation of the wrist  (IAGP)
Upslanted palpebral fissure  (IAGP)
Urinary retention  (IAGP)
Urticaria  (IAGP)
Ventricular septal defect  (IAGP)
Vesicoureteral reflux  (IAGP)
Vomiting  (IAGP)
Weight loss  (IAGP)
Wide intermamillary distance  (IAGP)
Wide nasal bridge  (IAGP)
References

Additional References at PubMed
PMID:1349871   PMID:8889548   PMID:9477319   PMID:10231032   PMID:11780052   PMID:12168954   PMID:12477932   PMID:12657473   PMID:14702039   PMID:15489334   PMID:16606617   PMID:17474147  
PMID:18239623   PMID:18258596   PMID:18506748   PMID:18624398   PMID:18957548   PMID:19388938   PMID:19586940   PMID:19609284   PMID:19615732   PMID:19815555   PMID:19865112   PMID:20182461  
PMID:20334914   PMID:20360068   PMID:20408841   PMID:20410925   PMID:20436459   PMID:20596031   PMID:20678218   PMID:20805357   PMID:21307773   PMID:21346257   PMID:21455215   PMID:21642991  
PMID:21706002   PMID:21832049   PMID:21873635   PMID:21904853   PMID:21923651   PMID:21988832   PMID:22031865   PMID:22058207   PMID:22271902   PMID:22419483   PMID:22436456   PMID:22489043  
PMID:22535592   PMID:22542624   PMID:22722839   PMID:22897849   PMID:22905207   PMID:22915647   PMID:22929312   PMID:23009937   PMID:23018865   PMID:23065512   PMID:23294243   PMID:23365461  
PMID:23376485   PMID:23531518   PMID:23602568   PMID:23690417   PMID:23704076   PMID:23952244   PMID:24077845   PMID:24115220   PMID:24496303   PMID:24695057   PMID:25005031   PMID:25239264  
PMID:25306901   PMID:25308295   PMID:25322686   PMID:25592059   PMID:25596262   PMID:25596267   PMID:25609649   PMID:25835095   PMID:25836587   PMID:25850813   PMID:25860933   PMID:25921057  
PMID:26095772   PMID:26234322   PMID:26286068   PMID:26364555   PMID:26416890   PMID:26437366   PMID:26470845   PMID:26496610   PMID:26508027   PMID:26623729   PMID:26628266   PMID:26700326  
PMID:26714837   PMID:26739236   PMID:26768331   PMID:26771811   PMID:26848006   PMID:27129146   PMID:27352931   PMID:27385790   PMID:27416984   PMID:27609421   PMID:27616637   PMID:27640403  
PMID:27705803   PMID:27736271   PMID:27736885   PMID:27984641   PMID:28027687   PMID:28063196   PMID:28218607   PMID:28229513   PMID:28424161   PMID:28452984   PMID:28522578   PMID:28667884  
PMID:28754985   PMID:29089644   PMID:29101206   PMID:29171022   PMID:29176559   PMID:29242575   PMID:29284740   PMID:29345617   PMID:29358618   PMID:29411666   PMID:29434284   PMID:29446906  
PMID:29507755   PMID:29532865   PMID:29556021   PMID:29643185   PMID:29761621   PMID:29785026   PMID:29899367   PMID:29907810   PMID:29959414   PMID:29967380   PMID:30004110   PMID:30013160  
PMID:30015104   PMID:30021884   PMID:30027691   PMID:30152885   PMID:30222780   PMID:30454965   PMID:30651633   PMID:30868899   PMID:31006630   PMID:31076447   PMID:31692235   PMID:31704857  
PMID:31741433   PMID:31780633   PMID:31819025   PMID:31945396   PMID:31969346   PMID:32034733   PMID:32066200   PMID:32216059   PMID:32296183   PMID:32381577   PMID:32518416   PMID:32683582  
PMID:33046688   PMID:33250015   PMID:33386934   PMID:33502020   PMID:33529703   PMID:33666653   PMID:33687704   PMID:33751773   PMID:33758188   PMID:33803981   PMID:33840380   PMID:33961781  
PMID:34099923   PMID:34210413   PMID:34267355   PMID:34576030  


Genomics

Comparative Map Data
ASXL1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2032,358,330 - 32,439,319 (+)EnsemblGRCh38hg38GRCh38
GRCh382032,358,062 - 32,439,319 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372030,946,134 - 31,027,122 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362030,409,814 - 30,490,783 (+)NCBINCBI36hg18NCBI36
Build 342030,409,820 - 30,490,783NCBI
Celera2027,702,183 - 27,783,146 (+)NCBI
Cytogenetic Map20q11.21NCBI
HuRef2027,742,560 - 27,816,603 (+)NCBIHuRef
CHM1_12030,850,605 - 30,932,052 (+)NCBICHM1_1
Asxl1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392153,187,750 - 153,245,927 (+)NCBIGRCm39mm39
GRCm39 Ensembl2153,187,749 - 153,245,927 (+)Ensembl
GRCm382153,345,830 - 153,404,007 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2153,345,829 - 153,404,007 (+)EnsemblGRCm38mm10GRCm38
MGSCv372153,171,875 - 153,229,743 (+)NCBIGRCm37mm9NCBIm37
MGSCv362153,037,493 - 153,095,448 (+)NCBImm8
MGSCv362154,151,679 - 154,209,986 (+)NCBImm8
Celera2159,188,615 - 159,246,403 (+)NCBICelera
Cytogenetic Map2H1NCBI
Asxl1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.23141,814,012 - 141,881,526 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl3141,813,433 - 141,881,538 (+)Ensembl
Rnor_6.03148,832,231 - 148,902,356 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3148,837,814 - 148,900,452 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03155,202,740 - 155,267,814 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43143,703,295 - 143,767,523 (+)NCBIRGSC3.4rn4RGSC3.4
Celera3140,560,551 - 140,627,551 (+)NCBICelera
Cytogenetic Map3q41NCBI
Asxl1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542228,664,282 - 28,721,896 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542228,662,392 - 28,721,896 (-)NCBIChiLan1.0ChiLan1.0
ASXL1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12029,773,836 - 29,852,433 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2029,774,582 - 29,850,453 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02028,647,004 - 28,727,865 (+)NCBIMhudiblu_PPA_v0panPan3
ASXL1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12421,725,126 - 21,804,745 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2421,661,059 - 21,802,815 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2421,372,658 - 21,451,415 (+)NCBI
ROS_Cfam_1.02422,413,734 - 22,492,956 (+)NCBI
UMICH_Zoey_3.12421,690,505 - 21,768,566 (+)NCBI
UNSW_CanFamBas_1.02421,797,741 - 21,876,696 (+)NCBI
UU_Cfam_GSD_1.02422,228,633 - 22,307,459 (+)NCBI
Asxl1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640170,792,007 - 170,865,824 (+)NCBI
SpeTri2.0NW_00493648519,218,494 - 19,297,188 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ASXL1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1735,985,535 - 36,067,122 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11735,985,978 - 36,067,122 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21740,908,208 - 40,984,182 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ASXL1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1236,735,449 - 36,810,447 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl236,735,830 - 36,812,387 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605090,099,728 - 90,176,128 (-)NCBIVero_WHO_p1.0
Asxl1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624741188,985 - 258,065 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
D20S200  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371860,553,605 - 60,553,818UniSTSGRCh37
GRCh372030,965,878 - 30,966,134UniSTSGRCh37
Build 361858,704,585 - 58,704,798RGDNCBI36
Celera2027,721,919 - 27,722,171UniSTS
Celera1857,271,642 - 57,271,855RGD
Cytogenetic Map20q11UniSTS
Cytogenetic Map18q21.33UniSTS
HuRef2027,755,259 - 27,755,511UniSTS
HuRef1857,262,453 - 57,262,666UniSTS
Marshfield Genetic Map2050.26RGD
Marshfield Genetic Map2050.26UniSTS
Genethon Genetic Map2049.7UniSTS
Whitehead-YAC Contig Map20 UniSTS
RH12044  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372031,026,850 - 31,027,020UniSTSGRCh37
Build 362030,490,511 - 30,490,681RGDNCBI36
Celera2027,782,874 - 27,783,044RGD
Cytogenetic Map20q11UniSTS
HuRef2027,816,331 - 27,816,501UniSTS
GeneMap99-GB4 RH Map20188.38UniSTS
NCBI RH Map20279.4UniSTS
RH64149  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372031,021,224 - 31,021,319UniSTSGRCh37
Build 362030,484,885 - 30,484,980RGDNCBI36
Celera2027,777,248 - 27,777,343RGD
Cytogenetic Map20q11UniSTS
HuRef2027,810,705 - 27,810,800UniSTS
GeneMap99-GB4 RH Map20186.16UniSTS
NCBI RH Map20279.4UniSTS
RH92532  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372031,025,014 - 31,025,165UniSTSGRCh37
Build 362030,488,675 - 30,488,826RGDNCBI36
Celera2027,781,038 - 27,781,189RGD
Cytogenetic Map20q11UniSTS
HuRef2027,814,495 - 27,814,646UniSTS
RH66092  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372031,025,710 - 31,025,868UniSTSGRCh37
Build 362030,489,371 - 30,489,529RGDNCBI36
Celera2027,781,734 - 27,781,892RGD
Cytogenetic Map20q11UniSTS
HuRef2027,815,191 - 27,815,349UniSTS
GeneMap99-GB4 RH Map20187.68UniSTS
NCBI RH Map20279.4UniSTS
A004G33  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372031,026,826 - 31,027,095UniSTSGRCh37
Build 362030,490,487 - 30,490,756RGDNCBI36
Celera2027,782,850 - 27,783,119RGD
Cytogenetic Map20q11UniSTS
HuRef2027,816,307 - 27,816,576UniSTS
GeneMap99-GB4 RH Map20188.38UniSTS
NCBI RH Map20279.4UniSTS
SHGC-37583  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372031,026,103 - 31,026,204UniSTSGRCh37
Build 362030,489,764 - 30,489,865RGDNCBI36
Celera2027,782,127 - 27,782,228RGD
Cytogenetic Map20q11UniSTS
HuRef2027,815,584 - 27,815,685UniSTS
TNG Radiation Hybrid Map2014471.0UniSTS
GeneMap99-G3 RH Map201697.0UniSTS
D20S1023  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372031,026,850 - 31,026,962UniSTSGRCh37
Build 362030,490,511 - 30,490,623RGDNCBI36
Celera2027,782,874 - 27,782,986RGD
Cytogenetic Map20q11UniSTS
HuRef2027,816,331 - 27,816,443UniSTS
Z94311  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372031,015,175 - 31,015,321UniSTSGRCh37
Build 362030,478,836 - 30,478,982RGDNCBI36
Celera2027,771,199 - 27,771,345RGD
Cytogenetic Map20q11UniSTS
HuRef2027,804,656 - 27,804,802UniSTS
ASXL1_4386  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372031,024,306 - 31,025,198UniSTSGRCh37
Build 362030,487,967 - 30,488,859RGDNCBI36
Celera2027,780,330 - 27,781,222RGD
HuRef2027,813,787 - 27,814,679UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4446
Count of miRNA genes:1081
Interacting mature miRNAs:1333
Transcripts:ENST00000306058, ENST00000375687, ENST00000375689, ENST00000470145, ENST00000497249, ENST00000542461, ENST00000553345, ENST00000555343, ENST00000555564
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2415 2069 1652 554 1447 400 4189 1718 2243 362 1439 1597 168 1204 2643 3
Low 22 922 72 70 504 65 167 478 1490 57 21 15 6 1 145 2 2
Below cutoff 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_027868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001164603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006723727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006723728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006723730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006723733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB023195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB084280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ438952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL034550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL117518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL117647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC100280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC137278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC137280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ064719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU686340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX109122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR977683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT583961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000306058   ⟹   ENSP00000305119
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2032,359,747 - 32,439,318 (+)Ensembl
RefSeq Acc Id: ENST00000375687   ⟹   ENSP00000364839
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2032,358,331 - 32,439,319 (+)Ensembl
RefSeq Acc Id: ENST00000375689   ⟹   ENSP00000364841
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2032,359,565 - 32,372,553 (+)Ensembl
RefSeq Acc Id: ENST00000470145
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2032,366,384 - 32,429,932 (+)Ensembl
RefSeq Acc Id: ENST00000497249   ⟹   ENSP00000451216
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2032,359,110 - 32,372,238 (+)Ensembl
RefSeq Acc Id: ENST00000542461   ⟹   ENSP00000438654
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2032,358,344 - 32,372,547 (+)Ensembl
RefSeq Acc Id: ENST00000553345
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2032,430,862 - 32,433,410 (+)Ensembl
RefSeq Acc Id: ENST00000555343   ⟹   ENSP00000480361
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2032,360,017 - 32,372,238 (+)Ensembl
RefSeq Acc Id: ENST00000555564
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2032,429,882 - 32,432,895 (+)Ensembl
RefSeq Acc Id: ENST00000613218   ⟹   ENSP00000480487
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2032,358,344 - 32,439,318 (+)Ensembl
RefSeq Acc Id: ENST00000619344
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2032,429,740 - 32,431,627 (+)Ensembl
RefSeq Acc Id: ENST00000620121   ⟹   ENSP00000481978
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2032,358,413 - 32,437,891 (+)Ensembl
RefSeq Acc Id: ENST00000642676   ⟹   ENSP00000496042
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2032,360,634 - 32,372,233 (+)Ensembl
RefSeq Acc Id: ENST00000643168   ⟹   ENSP00000495003
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2032,359,237 - 32,429,357 (+)Ensembl
RefSeq Acc Id: ENST00000644060
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2032,427,072 - 32,428,349 (+)Ensembl
RefSeq Acc Id: ENST00000644168
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2032,432,359 - 32,434,636 (+)Ensembl
RefSeq Acc Id: ENST00000644587   ⟹   ENSP00000494813
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2032,358,359 - 32,429,431 (+)Ensembl
RefSeq Acc Id: ENST00000644615
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2032,428,172 - 32,429,517 (+)Ensembl
RefSeq Acc Id: ENST00000645035   ⟹   ENSP00000495495
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2032,359,088 - 32,372,233 (+)Ensembl
RefSeq Acc Id: ENST00000645337   ⟹   ENSP00000494077
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2032,358,543 - 32,372,223 (+)Ensembl
RefSeq Acc Id: ENST00000645514
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2032,428,128 - 32,429,303 (+)Ensembl
RefSeq Acc Id: ENST00000645688   ⟹   ENSP00000495488
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2032,360,348 - 32,428,193 (+)Ensembl
RefSeq Acc Id: ENST00000646367   ⟹   ENSP00000493987
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2032,358,349 - 32,372,549 (+)Ensembl
RefSeq Acc Id: ENST00000646985   ⟹   ENSP00000495053
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2032,359,065 - 32,439,318 (+)Ensembl
RefSeq Acc Id: ENST00000647223
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2032,428,764 - 32,438,415 (+)Ensembl
RefSeq Acc Id: ENST00000649901   ⟹   ENSP00000497010
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2032,358,966 - 32,372,233 (+)Ensembl
RefSeq Acc Id: ENST00000651418   ⟹   ENSP00000499150
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2032,358,330 - 32,439,260 (+)Ensembl
RefSeq Acc Id: NM_001164603   ⟹   NP_001158075
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382032,358,344 - 32,372,549 (+)NCBI
GRCh372030,946,147 - 31,027,122 (+)ENTREZGENE
HuRef2027,742,560 - 27,816,603 (+)ENTREZGENE
CHM1_12030,850,605 - 30,864,814 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001363734   ⟹   NP_001350663
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382032,359,065 - 32,439,319 (+)NCBI
RefSeq Acc Id: NM_015338   ⟹   NP_056153
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382032,358,331 - 32,439,319 (+)NCBI
GRCh372030,946,147 - 31,027,122 (+)ENTREZGENE
Build 362030,409,814 - 30,490,783 (+)NCBI Archive
HuRef2027,742,560 - 27,816,603 (+)ENTREZGENE
CHM1_12030,850,605 - 30,932,052 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006723727   ⟹   XP_006723790
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382032,358,062 - 32,438,416 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006723728   ⟹   XP_006723791
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382032,359,237 - 32,438,416 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006723730   ⟹   XP_006723793
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382032,359,237 - 32,438,416 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006723733   ⟹   XP_006723796
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382032,430,393 - 32,439,319 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011528648   ⟹   XP_011526950
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382032,358,999 - 32,438,416 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011528652   ⟹   XP_011526954
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382032,359,253 - 32,438,416 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017027704   ⟹   XP_016883193
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382032,359,253 - 32,438,416 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017027705   ⟹   XP_016883194
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382032,359,285 - 32,438,416 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017027706   ⟹   XP_016883195
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382032,358,062 - 32,439,319 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001158075 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350663 (Get FASTA)   NCBI Sequence Viewer  
  NP_056153 (Get FASTA)   NCBI Sequence Viewer  
  XP_006723790 (Get FASTA)   NCBI Sequence Viewer  
  XP_006723791 (Get FASTA)   NCBI Sequence Viewer  
  XP_006723793 (Get FASTA)   NCBI Sequence Viewer  
  XP_006723796 (Get FASTA)   NCBI Sequence Viewer  
  XP_011526950 (Get FASTA)   NCBI Sequence Viewer  
  XP_011526954 (Get FASTA)   NCBI Sequence Viewer  
  XP_016883193 (Get FASTA)   NCBI Sequence Viewer  
  XP_016883194 (Get FASTA)   NCBI Sequence Viewer  
  XP_016883195 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH33284 (Get FASTA)   NCBI Sequence Viewer  
  AAH64984 (Get FASTA)   NCBI Sequence Viewer  
  AAI00281 (Get FASTA)   NCBI Sequence Viewer  
  AAI37279 (Get FASTA)   NCBI Sequence Viewer  
  AAI37281 (Get FASTA)   NCBI Sequence Viewer  
  BAA76822 (Get FASTA)   NCBI Sequence Viewer  
  BAD00087 (Get FASTA)   NCBI Sequence Viewer  
  BAG53800 (Get FASTA)   NCBI Sequence Viewer  
  CAB55975 (Get FASTA)   NCBI Sequence Viewer  
  CAB56029 (Get FASTA)   NCBI Sequence Viewer  
  CAD27708 (Get FASTA)   NCBI Sequence Viewer  
  EAW76377 (Get FASTA)   NCBI Sequence Viewer  
  EAW76378 (Get FASTA)   NCBI Sequence Viewer  
  EAW76379 (Get FASTA)   NCBI Sequence Viewer  
  EAW76380 (Get FASTA)   NCBI Sequence Viewer  
  Q8IXJ9 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_056153   ⟸   NM_015338
- Peptide Label: isoform 1
- UniProtKB: Q8IXJ9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001158075   ⟸   NM_001164603
- Peptide Label: isoform 2
- UniProtKB: Q498B9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006723790   ⟸   XM_006723727
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_006723791   ⟸   XM_006723728
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_006723793   ⟸   XM_006723730
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_006723796   ⟸   XM_006723733
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011526950   ⟸   XM_011528648
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011526954   ⟸   XM_011528652
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016883195   ⟸   XM_017027706
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016883193   ⟸   XM_017027704
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016883194   ⟸   XM_017027705
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: NP_001350663   ⟸   NM_001363734
- Peptide Label: isoform 3
RefSeq Acc Id: ENSP00000480361   ⟸   ENST00000555343
RefSeq Acc Id: ENSP00000481978   ⟸   ENST00000620121
RefSeq Acc Id: ENSP00000305119   ⟸   ENST00000306058
RefSeq Acc Id: ENSP00000438654   ⟸   ENST00000542461
RefSeq Acc Id: ENSP00000497010   ⟸   ENST00000649901
RefSeq Acc Id: ENSP00000364839   ⟸   ENST00000375687
RefSeq Acc Id: ENSP00000364841   ⟸   ENST00000375689
RefSeq Acc Id: ENSP00000499150   ⟸   ENST00000651418
RefSeq Acc Id: ENSP00000480487   ⟸   ENST00000613218
RefSeq Acc Id: ENSP00000451216   ⟸   ENST00000497249
RefSeq Acc Id: ENSP00000496042   ⟸   ENST00000642676
RefSeq Acc Id: ENSP00000495003   ⟸   ENST00000643168
RefSeq Acc Id: ENSP00000494813   ⟸   ENST00000644587
RefSeq Acc Id: ENSP00000495488   ⟸   ENST00000645688
RefSeq Acc Id: ENSP00000495495   ⟸   ENST00000645035
RefSeq Acc Id: ENSP00000494077   ⟸   ENST00000645337
RefSeq Acc Id: ENSP00000495053   ⟸   ENST00000646985
RefSeq Acc Id: ENSP00000493987   ⟸   ENST00000646367
Protein Domains
ASXH   HARE-HTH   HTH HARE-type   PHD_3

Promoters
RGD ID:6798536
Promoter ID:HG_KWN:39024
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_001164603,   NM_015338,   OTTHUMT00000078624,   OTTHUMT00000078626,   UC002WXR.1,   UC002WXS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362030,409,434 - 30,409,934 (+)MPROMDB
RGD ID:6798538
Promoter ID:HG_KWN:39025
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000375687,   ENST00000375689
Position:
Human AssemblyChrPosition (strand)Source
Build 362030,410,361 - 30,410,867 (+)MPROMDB
RGD ID:6798529
Promoter ID:HG_KWN:39026
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:OTTHUMT00000078627
Position:
Human AssemblyChrPosition (strand)Source
Build 362030,417,776 - 30,418,276 (+)MPROMDB
RGD ID:6798535
Promoter ID:HG_KWN:39027
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC002WXT.2,   UC010GEB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362030,420,291 - 30,420,791 (+)MPROMDB
RGD ID:6815389
Promoter ID:HG_MRA:9840
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:AK025756,   BC033284,   CR611154
Position:
Human AssemblyChrPosition (strand)Source
Build 362030,489,861 - 30,490,361 (+)MPROMDB
RGD ID:13206653
Promoter ID:EPDNEW_H26907
Type:initiation region
Name:ASXL1_1
Description:additional sex combs like 1, transcriptional regulator
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382032,359,753 - 32,359,813EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_015338.5(ASXL1):c.1773C>G (p.Tyr591Ter) single nucleotide variant not provided [RCV000519960] Chr20:32434485 [GRCh38]
Chr20:31022288 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.6(ASXL1):c.2535dup (p.Ser846fs) duplication Bohring-Opitz syndrome [RCV000023979] Chr20:32435242..32435243 [GRCh38]
Chr20:31023045..31023046 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.6(ASXL1):c.2407_2411del (p.Gln803fs) deletion Bohring-Opitz syndrome [RCV000032664] Chr20:32435118..32435122 [GRCh38]
Chr20:31022921..31022925 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.6(ASXL1):c.1283_1284del (p.Gln428fs) deletion Bohring-Opitz syndrome [RCV000735213] Chr20:32433481..32433482 [GRCh38]
Chr20:31021284..31021285 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.6(ASXL1):c.2773C>T (p.Gln925Ter) single nucleotide variant Bohring-Opitz syndrome [RCV000023976] Chr20:32435485 [GRCh38]
Chr20:31023288 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.6(ASXL1):c.1210C>T (p.Arg404Ter) single nucleotide variant Bohring-Opitz syndrome [RCV000023977]|Developmental delay [RCV000415151]|Hypertrichosis [RCV000414833]|Myelodysplastic syndrome [RCV001199371]|not provided [RCV000627196] Chr20:32433408 [GRCh38]
Chr20:31021211 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.6(ASXL1):c.3083C>A (p.Ser1028Ter) single nucleotide variant Bohring-Opitz syndrome [RCV000023978] Chr20:32435795 [GRCh38]
Chr20:31023598 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.6(ASXL1):c.2197C>T (p.Gln733Ter) single nucleotide variant Bohring-Opitz syndrome [RCV000023980] Chr20:32434909 [GRCh38]
Chr20:31022712 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.6(ASXL1):c.2893C>T (p.Arg965Ter) single nucleotide variant Bohring-Opitz syndrome [RCV000032665]|not provided [RCV000255108] Chr20:32435605 [GRCh38]
Chr20:31023408 [GRCh37]
Chr20:20q11.21
pathogenic
GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3 copy number gain See cases [RCV000052999] Chr20:9811433..39316956 [GRCh38]
Chr20:9792081..37945599 [GRCh37]
Chr20:9740081..37379013 [NCBI36]
Chr20:20p12.2-q12
pathogenic
NM_015338.5(ASXL1):c.861C>T (p.Leu287=) single nucleotide variant Malignant melanoma [RCV000072576] Chr20:32431463 [GRCh38]
Chr20:31019266 [GRCh37]
Chr20:30482927 [NCBI36]
Chr20:20q11.21
not provided
NM_015338.5(ASXL1):c.3865C>T (p.Arg1289Trp) single nucleotide variant Malignant melanoma [RCV000072577] Chr20:32436577 [GRCh38]
Chr20:31024380 [GRCh37]
Chr20:30488041 [NCBI36]
Chr20:20q11.21
not provided
NM_015338.6(ASXL1):c.2100T>A (p.Tyr700Ter) single nucleotide variant Myelodysplasia [RCV000660864] Chr20:32434812 [GRCh38]
Chr20:31022615 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.6(ASXL1):c.999G>T (p.Met333Ile) single nucleotide variant not specified [RCV000120088] Chr20:32432899 [GRCh38]
Chr20:31020702 [GRCh37]
Chr20:20q11.21
not provided
NM_015338.6(ASXL1):c.1388G>A (p.Ser463Asn) single nucleotide variant not provided [RCV000726805]|not specified [RCV000120089] Chr20:32433586 [GRCh38]
Chr20:31021389 [GRCh37]
Chr20:20q11.21
uncertain significance|not provided
NM_015338.6(ASXL1):c.1429G>C (p.Glu477Gln) single nucleotide variant not provided [RCV000898098]|not specified [RCV000120090] Chr20:32433627 [GRCh38]
Chr20:31021430 [GRCh37]
Chr20:20q11.21
benign|not provided
NM_015338.6(ASXL1):c.2513A>G (p.Lys838Arg) single nucleotide variant not provided [RCV000437602]|not specified [RCV000120091] Chr20:32435225 [GRCh38]
Chr20:31023028 [GRCh37]
Chr20:20q11.21
benign|not provided
NM_015338.6(ASXL1):c.2957A>G (p.Asn986Ser) single nucleotide variant not provided [RCV000952785]|not specified [RCV000120092] Chr20:32435669 [GRCh38]
Chr20:31023472 [GRCh37]
Chr20:20q11.21
benign|likely benign|not provided
NM_015338.6(ASXL1):c.3745A>G (p.Met1249Val) single nucleotide variant not provided [RCV000892843]|not specified [RCV000120093] Chr20:32436457 [GRCh38]
Chr20:31024260 [GRCh37]
Chr20:20q11.21
benign|likely benign|not provided
NM_015338.6(ASXL1):c.3761A>G (p.Asn1254Ser) single nucleotide variant not specified [RCV000120094] Chr20:32436473 [GRCh38]
Chr20:31024276 [GRCh37]
Chr20:20q11.21
not provided
NM_015338.6(ASXL1):c.3083C>T (p.Ser1028Leu) single nucleotide variant not specified [RCV000120095] Chr20:32435795 [GRCh38]
Chr20:31023598 [GRCh37]
Chr20:20q11.21
not provided
NM_015338.6(ASXL1):c.3442C>T (p.Arg1148Cys) single nucleotide variant not specified [RCV000120096] Chr20:32436154 [GRCh38]
Chr20:31023957 [GRCh37]
Chr20:20q11.21
not provided
NM_015338.6(ASXL1):c.3498C>G (p.Ser1166Arg) single nucleotide variant not provided [RCV000514193]|not specified [RCV000120097] Chr20:32436210 [GRCh38]
Chr20:31024013 [GRCh37]
Chr20:20q11.21
benign|likely benign|not provided
NM_015338.6(ASXL1):c.3662C>A (p.Thr1221Lys) single nucleotide variant not specified [RCV000120098] Chr20:32436374 [GRCh38]
Chr20:31024177 [GRCh37]
Chr20:20q11.21
not provided
NM_015338.6(ASXL1):c.3692C>T (p.Ser1231Phe) single nucleotide variant not provided [RCV001517395]|not specified [RCV000120099] Chr20:32436404 [GRCh38]
Chr20:31024207 [GRCh37]
Chr20:20q11.21
benign|not provided
NM_015338.6(ASXL1):c.3817C>T (p.Arg1273Cys) single nucleotide variant not specified [RCV000120100] Chr20:32436529 [GRCh38]
Chr20:31024332 [GRCh37]
Chr20:20q11.21
not provided
NM_015338.6(ASXL1):c.3935C>T (p.Ala1312Val) single nucleotide variant not provided [RCV000908080]|not specified [RCV000120101] Chr20:32436647 [GRCh38]
Chr20:31024450 [GRCh37]
Chr20:20q11.21
likely benign|not provided
NM_015338.6(ASXL1):c.3973C>T (p.Leu1325Phe) single nucleotide variant not provided [RCV000966086]|not specified [RCV000120102] Chr20:32436685 [GRCh38]
Chr20:31024488 [GRCh37]
Chr20:20q11.21
benign|not provided
NM_015338.6(ASXL1):c.4493C>T (p.Thr1498Met) single nucleotide variant Intellectual disability [RCV001252411]|not provided [RCV001544865]|not specified [RCV000120103] Chr20:32437205 [GRCh38]
Chr20:31025008 [GRCh37]
Chr20:20q11.21
likely benign|uncertain significance|not provided
NM_015338.6(ASXL1):c.1817G>A (p.Arg606Gln) single nucleotide variant not specified [RCV000120104] Chr20:32434529 [GRCh38]
Chr20:31022332 [GRCh37]
Chr20:20q11.21
not provided
NM_015338.6(ASXL1):c.1954G>A (p.Gly652Ser) single nucleotide variant not provided [RCV001521703]|not specified [RCV000120105] Chr20:32434666 [GRCh38]
Chr20:31022469 [GRCh37]
Chr20:20q11.21
benign|not provided
NM_015338.6(ASXL1):c.2251G>A (p.Val751Ile) single nucleotide variant not provided [RCV000967550]|not specified [RCV000120106] Chr20:32434963 [GRCh38]
Chr20:31022766 [GRCh37]
Chr20:20q11.21
benign|not provided
NM_015338.6(ASXL1):c.2395G>T (p.Asp799Tyr) single nucleotide variant not provided [RCV000514237]|not specified [RCV000120107] Chr20:32435107 [GRCh38]
Chr20:31022910 [GRCh37]
Chr20:20q11.21
benign|likely benign|not provided
NM_015338.6(ASXL1):c.3306G>T (p.Glu1102Asp) single nucleotide variant not provided [RCV001522277]|not specified [RCV000120108] Chr20:32436018 [GRCh38]
Chr20:31023821 [GRCh37]
Chr20:20q11.21
benign|likely benign|not provided
NM_015338.6(ASXL1):c.3503G>C (p.Ser1168Thr) single nucleotide variant Intellectual disability [RCV001252410]|not provided [RCV000903990]|not specified [RCV000120109] Chr20:32436215 [GRCh38]
Chr20:31024018 [GRCh37]
Chr20:20q11.21
likely benign|not provided
NM_139279.6(MCFD2):c.249del (p.Asp83fs) single nucleotide variant not provided [RCV001618285]|not specified [RCV000120110] Chr20:32436601 [GRCh38]
Chr20:31024404 [GRCh37]
Chr20:20q11.21
benign|not provided
NM_015338.6(ASXL1):c.4189G>A (p.Gly1397Ser) single nucleotide variant not provided [RCV000880772]|not specified [RCV000120111] Chr20:32436901 [GRCh38]
Chr20:31024704 [GRCh37]
Chr20:20q11.21
benign|likely benign|not provided
NM_015338.6(ASXL1):c.2444= (p.Pro815=) single nucleotide variant not provided [RCV001513225]|not specified [RCV000120112] Chr20:32435156 [GRCh38]
Chr20:31022959 [GRCh37]
Chr20:20q11.21
benign|not provided
NM_015338.6(ASXL1):c.683C>T (p.Ala228Val) single nucleotide variant not specified [RCV000120113] Chr20:32430018 [GRCh38]
Chr20:31017821 [GRCh37]
Chr20:20q11.21
not provided
NM_015338.6(ASXL1):c.656G>T (p.Gly219Val) single nucleotide variant not specified [RCV000120114] Chr20:32429991 [GRCh38]
Chr20:31017794 [GRCh37]
Chr20:20q11.21
not provided
NM_015338.6(ASXL1):c.453C>A (p.Ser151Arg) single nucleotide variant not specified [RCV000171344] Chr20:32428404 [GRCh38]
Chr20:31016207 [GRCh37]
Chr20:20q11.21
likely pathogenic|likely benign
NM_015338.6(ASXL1):c.2989G>C (p.Glu997Gln) single nucleotide variant not provided [RCV000171345] Chr20:32435701 [GRCh38]
Chr20:31023504 [GRCh37]
Chr20:20q11.21
likely pathogenic
NM_015338.6(ASXL1):c.3635C>T (p.Ser1212Phe) single nucleotide variant not provided [RCV000171346] Chr20:32436347 [GRCh38]
Chr20:31024150 [GRCh37]
Chr20:20q11.21
likely pathogenic|benign
NM_015338.6(ASXL1):c.1433del (p.Gly478fs) deletion not provided [RCV000657555] Chr20:32433629 [GRCh38]
Chr20:31021432 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.6(ASXL1):c.1910C>G (p.Ala637Gly) single nucleotide variant Juvenile myelomonocytic leukemia [RCV000662110]|Myelodysplastic syndrome [RCV000662109] Chr20:32434622 [GRCh38]
Chr20:31022425 [GRCh37]
Chr20:20q11.21
likely pathogenic|uncertain significance
NM_015338.6(ASXL1):c.69del (p.Tyr24fs) deletion Bohring-Opitz syndrome [RCV001333854] Chr20:32366395 [GRCh38]
Chr20:30954198 [GRCh37]
Chr20:20q11.21
likely pathogenic
GRCh38/hg38 20q11.21(chr20:31254983-32575288)x3 copy number gain See cases [RCV000134504] Chr20:31254983..32575288 [GRCh38]
Chr20:29842786..31163090 [GRCh37]
Chr20:29306447..30626751 [NCBI36]
Chr20:20q11.21
pathogenic
GRCh38/hg38 20q11.21(chr20:31254983-33473080)x3 copy number gain See cases [RCV000135358] Chr20:31254983..33473080 [GRCh38]
Chr20:29842786..32060886 [GRCh37]
Chr20:29306447..31524547 [NCBI36]
Chr20:20q11.21
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 20q11.21-11.23(chr20:32062768-35906606)x3 copy number gain See cases [RCV000141833] Chr20:32062768..35906606 [GRCh38]
Chr20:30650571..34494528 [GRCh37]
Chr20:30114232..33957942 [NCBI36]
Chr20:20q11.21-11.23
pathogenic
GRCh38/hg38 20q11.21(chr20:32395883-32470045)x3 copy number gain See cases [RCV000143551] Chr20:32395883..32470045 [GRCh38]
Chr20:30983686..31057848 [GRCh37]
Chr20:30447347..30521509 [NCBI36]
Chr20:20q11.21
uncertain significance
NM_015338.6(ASXL1):c.2922C>A (p.Tyr974Ter) single nucleotide variant not provided [RCV000255194] Chr20:32435634 [GRCh38]
Chr20:31023437 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.6(ASXL1):c.3754_3758del (p.Gln1251_Asp1252insTer) deletion Bohring-Opitz syndrome [RCV000578410] Chr20:32436462..32436466 [GRCh38]
Chr20:31024265..31024269 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.6(ASXL1):c.217A>T (p.Lys73Ter) single nucleotide variant Bohring-Opitz syndrome [RCV000578382] Chr20:32369088 [GRCh38]
Chr20:30956891 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.5(ASXL1):c.3910C>G (p.Leu1304Val) single nucleotide variant not provided [RCV000514197] Chr20:32436622 [GRCh38]
Chr20:31024425 [GRCh37]
Chr20:20q11.21
conflicting interpretations of pathogenicity|uncertain significance
NM_015338.6(ASXL1):c.3800C>A (p.Thr1267Asn) single nucleotide variant not provided [RCV000224799] Chr20:32436512 [GRCh38]
Chr20:31024315 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.5(ASXL1):c.1867C>T (p.Gln623Ter) single nucleotide variant not provided [RCV000331527] Chr20:32434579 [GRCh38]
Chr20:31022382 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.6(ASXL1):c.4243C>T single nucleotide variant Inborn genetic diseases [RCV000623910]|Rubinstein taybi like syndrome [RCV001261776]|not provided [RCV000578978] Chr20:32436955 [GRCh38]
Chr20:31024758 [GRCh37]
Chr20:20q11.21
pathogenic|likely pathogenic
NM_015338.6(ASXL1):c.4109AGA[1] (p.Lys1371del) microsatellite Bohring-Opitz syndrome [RCV000662077]|Myelodysplastic syndrome [RCV000662076] Chr20:32436821..32436823 [GRCh38]
Chr20:31024624..31024626 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.5(ASXL1):c.3111G>A (p.Trp1037Ter) single nucleotide variant Inborn genetic diseases [RCV000622812] Chr20:32435823 [GRCh38]
Chr20:31023626 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.5(ASXL1):c.1446dup (p.Val483fs) duplication Inborn genetic diseases [RCV000623422] Chr20:32433643..32433644 [GRCh38]
Chr20:31021446..31021447 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.6(ASXL1):c.3144_3145del (p.Asp1049fs) deletion not provided [RCV000255751] Chr20:32435855..32435856 [GRCh38]
Chr20:31023658..31023659 [GRCh37]
Chr20:20q11.21
pathogenic
GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3 copy number gain See cases [RCV000240436] Chr20:17705775..31600738 [GRCh37]
Chr20:20p12.1-q11.21
pathogenic
NM_004006.3(DMD):c.3020C>T (p.Ser1007Leu) single nucleotide variant not provided [RCV001517393]|not specified [RCV001723936] Chr20:32435697 [GRCh38]
Chr20:31023500 [GRCh37]
Chr20:20q11.21
benign
NM_015338.5(ASXL1):c.*1580T>C single nucleotide variant Bohring-Opitz syndrome [RCV000272310] Chr20:32438918 [GRCh38]
Chr20:31026721 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.5(ASXL1):c.2802T>C (p.Ala934=) single nucleotide variant Bohring-Opitz syndrome [RCV000275485] Chr20:32435514 [GRCh38]
Chr20:31023317 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.5(ASXL1):c.1388G>C (p.Ser463Thr) single nucleotide variant Bohring-Opitz syndrome [RCV000273509] Chr20:32433586 [GRCh38]
Chr20:31021389 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.5(ASXL1):c.*1238C>T single nucleotide variant Bohring-Opitz syndrome [RCV000276611] Chr20:32438576 [GRCh38]
Chr20:31026379 [GRCh37]
Chr20:20q11.21
benign
NM_015338.6(ASXL1):c.3378C>T (p.His1126=) single nucleotide variant not provided [RCV000935758] Chr20:32436090 [GRCh38]
Chr20:31023893 [GRCh37]
Chr20:20q11.21
likely benign|uncertain significance
NM_015338.5(ASXL1):c.*1814G>A single nucleotide variant Bohring-Opitz syndrome [RCV000282757] Chr20:32439152 [GRCh38]
Chr20:31026955 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.5(ASXL1):c.2127C>G (p.Ala709=) single nucleotide variant Bohring-Opitz syndrome [RCV000286151] Chr20:32434839 [GRCh38]
Chr20:31022642 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.5(ASXL1):c.*278G>A single nucleotide variant Bohring-Opitz syndrome [RCV000288819] Chr20:32437616 [GRCh38]
Chr20:31025419 [GRCh37]
Chr20:20q11.21
benign
NM_015338.6(ASXL1):c.374-9C>T single nucleotide variant not provided [RCV001516928]|not specified [RCV001725171] Chr20:32428316 [GRCh38]
Chr20:31016119 [GRCh37]
Chr20:20q11.21
benign|likely benign
NM_015338.5(ASXL1):c.*78A>G single nucleotide variant Bohring-Opitz syndrome [RCV000292375] Chr20:32437416 [GRCh38]
Chr20:31025219 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.3519G>A (p.Leu1173=) single nucleotide variant not provided [RCV001517394]|not specified [RCV000401303] Chr20:32436231 [GRCh38]
Chr20:31024034 [GRCh37]
Chr20:20q11.21
benign
NM_015338.5(ASXL1):c.2419G>A (p.Val807Ile) single nucleotide variant Bohring-Opitz syndrome [RCV000297894] Chr20:32435131 [GRCh38]
Chr20:31022934 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.5(ASXL1):c.1268A>G (p.Asn423Ser) single nucleotide variant Bohring-Opitz syndrome [RCV000260381] Chr20:32433466 [GRCh38]
Chr20:31021269 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_018075.5(ANO10):c.1954A>G (p.Met652Val) single nucleotide variant not provided [RCV001659624] Chr20:32436677 [GRCh38]
Chr20:31024480 [GRCh37]
Chr20:20q11.21
benign|likely benign
NM_015338.5(ASXL1):c.890C>T (p.Thr297Met) single nucleotide variant Bohring-Opitz syndrome [RCV000301957] Chr20:32431590 [GRCh38]
Chr20:31019393 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.5(ASXL1):c.*682G>A single nucleotide variant Bohring-Opitz syndrome [RCV000304574] Chr20:32438020 [GRCh38]
Chr20:31025823 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.5(ASXL1):c.3776C>T (p.Pro1259Leu) single nucleotide variant Bohring-Opitz syndrome [RCV000310306] Chr20:32436488 [GRCh38]
Chr20:31024291 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.2544A>T (p.Thr848=) single nucleotide variant Bohring-Opitz syndrome [RCV000315304]|not provided [RCV000904450] Chr20:32435256 [GRCh38]
Chr20:31023059 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.5(ASXL1):c.1336G>A (p.Val446Ile) single nucleotide variant Bohring-Opitz syndrome [RCV000313477] Chr20:32433534 [GRCh38]
Chr20:31021337 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.5(ASXL1):c.4099G>A (p.Val1367Ile) single nucleotide variant Bohring-Opitz syndrome [RCV000317182] Chr20:32436811 [GRCh38]
Chr20:31024614 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_139279.6(MCFD2):c.249del (p.Asp83fs) single nucleotide variant Bohring-Opitz syndrome [RCV000321563]|not provided [RCV001613105] Chr20:32436063 [GRCh38]
Chr20:31023866 [GRCh37]
Chr20:20q11.21
likely benign|uncertain significance
NM_015338.5(ASXL1):c.3029C>T (p.Thr1010Met) single nucleotide variant not provided [RCV000907401] Chr20:32435741 [GRCh38]
Chr20:31023544 [GRCh37]
Chr20:20q11.21
benign|likely benign
NM_015338.5(ASXL1):c.*1342T>G single nucleotide variant Bohring-Opitz syndrome [RCV000327026] Chr20:32438680 [GRCh38]
Chr20:31026483 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.5(ASXL1):c.1282C>T (p.Gln428Ter) single nucleotide variant not provided [RCV000325688] Chr20:32433480 [GRCh38]
Chr20:31021283 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.6(ASXL1):c.1965C>T (p.Thr655=) single nucleotide variant not provided [RCV000966085] Chr20:32434677 [GRCh38]
Chr20:31022480 [GRCh37]
Chr20:20q11.21
benign|likely benign
NM_015338.5(ASXL1):c.*1687C>T single nucleotide variant Bohring-Opitz syndrome [RCV000327339] Chr20:32439025 [GRCh38]
Chr20:31026828 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.5(ASXL1):c.1488C>G (p.Asn496Lys) single nucleotide variant Bohring-Opitz syndrome [RCV000330940] Chr20:32433686 [GRCh38]
Chr20:31021489 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.5(ASXL1):c.*87A>G single nucleotide variant Bohring-Opitz syndrome [RCV000333346] Chr20:32437425 [GRCh38]
Chr20:31025228 [GRCh37]
Chr20:20q11.21
likely benign
NM_001164603.1(ASXL1):c.-159G>C single nucleotide variant Bohring-Opitz syndrome [RCV000263167] Chr20:32358617 [GRCh38]
Chr20:30946420 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.5(ASXL1):c.2432A>G (p.Asn811Ser) single nucleotide variant Bohring-Opitz syndrome [RCV000336523] Chr20:32435144 [GRCh38]
Chr20:31022947 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.5(ASXL1):c.2337T>G (p.Pro779=) single nucleotide variant not provided [RCV000885730] Chr20:32435049 [GRCh38]
Chr20:31022852 [GRCh37]
Chr20:20q11.21
benign|likely benign
NM_015338.5(ASXL1):c.502A>T (p.Met168Leu) single nucleotide variant Bohring-Opitz syndrome [RCV000341613] Chr20:32429368 [GRCh38]
Chr20:31017171 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.5(ASXL1):c.891G>A (p.Thr297=) single nucleotide variant Bohring-Opitz syndrome [RCV000340446] Chr20:32431591 [GRCh38]
Chr20:31019394 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.5(ASXL1):c.*1970G>A single nucleotide variant Bohring-Opitz syndrome [RCV000342632] Chr20:32439308 [GRCh38]
Chr20:31027111 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.5(ASXL1):c.2247C>T (p.Leu749=) single nucleotide variant Bohring-Opitz syndrome [RCV000343456] Chr20:32434959 [GRCh38]
Chr20:31022762 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.5(ASXL1):c.*1178G>A single nucleotide variant Bohring-Opitz syndrome [RCV000275654] Chr20:32438516 [GRCh38]
Chr20:31026319 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.5(ASXL1):c.*285G>C single nucleotide variant Bohring-Opitz syndrome [RCV000347989] Chr20:32437623 [GRCh38]
Chr20:31025426 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.5(ASXL1):c.3612C>G (p.Cys1204Trp) single nucleotide variant Bohring-Opitz syndrome [RCV000352132] Chr20:32436324 [GRCh38]
Chr20:31024127 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.5(ASXL1):c.1162G>A (p.Val388Ile) single nucleotide variant not provided [RCV000974488] Chr20:32433360 [GRCh38]
Chr20:31021163 [GRCh37]
Chr20:20q11.21
benign|uncertain significance
NM_015338.5(ASXL1):c.*921T>C single nucleotide variant Bohring-Opitz syndrome [RCV000354684] Chr20:32438259 [GRCh38]
Chr20:31026062 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_001164603.1(ASXL1):c.-223A>T single nucleotide variant Bohring-Opitz syndrome [RCV000264115] Chr20:32358553 [GRCh38]
Chr20:30946356 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.6(ASXL1):c.3212C>T (p.Ala1071Val) single nucleotide variant Bohring-Opitz syndrome [RCV000361222] Chr20:32435924 [GRCh38]
Chr20:31023727 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.5(ASXL1):c.3914T>A (p.Phe1305Tyr) single nucleotide variant Bohring-Opitz syndrome [RCV000364864] Chr20:32436626 [GRCh38]
Chr20:31024429 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.6(ASXL1):c.1544_1545del (p.Val515fs) microsatellite Inborn genetic diseases [RCV000622658]|not provided [RCV000366685] Chr20:32433740..32433741 [GRCh38]
Chr20:31021543..31021544 [GRCh37]
Chr20:20q11.21
pathogenic|likely pathogenic|uncertain significance
NM_015338.6(ASXL1):c.686C>T (p.Pro229Leu) single nucleotide variant not provided [RCV000288522] Chr20:32430021 [GRCh38]
Chr20:31017824 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.6(ASXL1):c.1162_1163del (p.Val388fs) microsatellite Bohring-Opitz syndrome [RCV000856733]|not provided [RCV000592184] Chr20:32433355..32433356 [GRCh38]
Chr20:31021158..31021159 [GRCh37]
Chr20:20q11.21
pathogenic|likely pathogenic|uncertain significance
NM_001164603.1(ASXL1):c.-92C>A single nucleotide variant Bohring-Opitz syndrome [RCV000276167] Chr20:32358684 [GRCh38]
Chr20:30946487 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_001164603.1(ASXL1):c.-93C>G single nucleotide variant Bohring-Opitz syndrome [RCV000373045] Chr20:32358683 [GRCh38]
Chr20:30946486 [GRCh37]
Chr20:20q11.21
benign
NM_015338.6(ASXL1):c.3513G>A (p.Arg1171=) single nucleotide variant not provided [RCV000950493]|not specified [RCV001723937] Chr20:32436225 [GRCh38]
Chr20:31024028 [GRCh37]
Chr20:20q11.21
benign|likely benign
NM_015338.5(ASXL1):c.*1813C>T single nucleotide variant Bohring-Opitz syndrome [RCV000377241] Chr20:32439151 [GRCh38]
Chr20:31026954 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.5(ASXL1):c.2250C>T (p.Pro750=) single nucleotide variant not provided [RCV000973618] Chr20:32434962 [GRCh38]
Chr20:31022765 [GRCh37]
Chr20:20q11.21
benign
NM_015338.5(ASXL1):c.2387G>C (p.Trp796Ser) single nucleotide variant not provided [RCV000396645] Chr20:32435099 [GRCh38]
Chr20:31022902 [GRCh37]
Chr20:20q11.21
conflicting interpretations of pathogenicity|uncertain significance
NM_001164603.1(ASXL1):c.252+11T>C single nucleotide variant not provided [RCV000514161] Chr20:32369134 [GRCh38]
Chr20:30956937 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.2110G>A (p.Gly704Arg) single nucleotide variant not provided [RCV000903861] Chr20:32434822 [GRCh38]
Chr20:31022625 [GRCh37]
Chr20:20q11.21
benign|likely benign
NM_015338.6(ASXL1):c.*1556_*1557del deletion Bohring-Opitz syndrome [RCV000381656] Chr20:32438894..32438895 [GRCh38]
Chr20:31026697..31026698 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.5(ASXL1):c.1929G>T (p.Gly643=) single nucleotide variant Bohring-Opitz syndrome [RCV000383924] Chr20:32434641 [GRCh38]
Chr20:31022444 [GRCh37]
Chr20:20q11.21
likely benign
null single nucleotide variant not provided [RCV001724509]|not specified [RCV001724510] Chr20:32437360 [GRCh38]
Chr20:31025163 [GRCh37]
Chr20:20q11.21
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001685642] Chr20:32437428 [GRCh38]
Chr20:31025231 [GRCh37]
Chr20:20q11.21
benign
NM_015338.5(ASXL1):c.1249C>T (p.Arg417Ter) single nucleotide variant not provided [RCV000326340] Chr20:32433447 [GRCh38]
Chr20:31021250 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.5(ASXL1):c.3663A>C (p.Thr1221=) single nucleotide variant Bohring-Opitz syndrome [RCV000390770] Chr20:32436375 [GRCh38]
Chr20:31024178 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.5(ASXL1):c.2526T>C (p.Asn842=) single nucleotide variant not provided [RCV000901433] Chr20:32435238 [GRCh38]
Chr20:31023041 [GRCh37]
Chr20:20q11.21
benign|likely benign
NM_015338.5(ASXL1):c.930C>T (p.Asn310=) single nucleotide variant Bohring-Opitz syndrome [RCV000396039] Chr20:32431630 [GRCh38]
Chr20:31019433 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.6(ASXL1):c.582C>T (p.His194=) single nucleotide variant not provided [RCV000948043] Chr20:32429917 [GRCh38]
Chr20:31017720 [GRCh37]
Chr20:20q11.21
benign
NM_015338.5(ASXL1):c.*1016C>T single nucleotide variant Bohring-Opitz syndrome [RCV000397027] Chr20:32438354 [GRCh38]
Chr20:31026157 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.3759T>C (p.Ser1253=) single nucleotide variant Bohring-Opitz syndrome [RCV001553862]|not provided [RCV001517396]|not specified [RCV000603784] Chr20:32436471 [GRCh38]
Chr20:31024274 [GRCh37]
Chr20:20q11.21
benign
NM_015338.6(ASXL1):c.-282C>T single nucleotide variant not provided [RCV001563501] Chr20:32358494 [GRCh38]
Chr20:30946297 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.5(ASXL1):c.*394A>G single nucleotide variant Bohring-Opitz syndrome [RCV000404106] Chr20:32437732 [GRCh38]
Chr20:31025535 [GRCh37]
Chr20:20q11.21
benign
NM_015338.5(ASXL1):c.*548G>C single nucleotide variant Bohring-Opitz syndrome [RCV000404959] Chr20:32437886 [GRCh38]
Chr20:31025689 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.1281dup (p.Gln428fs) duplication not provided [RCV000297241] Chr20:32433473..32433474 [GRCh38]
Chr20:31021276..31021277 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.5(ASXL1):c.4098C>T (p.Ser1366=) single nucleotide variant not provided [RCV000899982] Chr20:32436810 [GRCh38]
Chr20:31024613 [GRCh37]
Chr20:20q11.21
benign|likely benign
NM_015338.6(ASXL1):c.2367dup (p.Glu790Ter) duplication not provided [RCV000722668] Chr20:32435078..32435079 [GRCh38]
Chr20:31022881..31022882 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.6(ASXL1):c.1934dup duplication Abnormality of brain morphology [RCV001526628]|Bohring-Opitz syndrome [RCV000677687]|not provided [RCV000489373] Chr20:32434638..32434639 [GRCh38]
Chr20:31022441..31022442 [GRCh37]
Chr20:20q11.21
pathogenic|likely pathogenic
NM_015338.5(ASXL1):c.4198G>T (p.Glu1400Ter) single nucleotide variant not provided [RCV000523176] Chr20:32436910 [GRCh38]
Chr20:31024713 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.6(ASXL1):c.3241CTG[1] (p.Leu1082del) microsatellite not provided [RCV000487846] Chr20:32435953..32435955 [GRCh38]
Chr20:31023756..31023758 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_001164603.1(ASXL1):c.-392G>A single nucleotide variant Bohring-Opitz syndrome [RCV000362390] Chr20:32358384 [GRCh38]
Chr20:30946187 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.5(ASXL1):c.2791del (p.Glu931fs) deletion Inborn genetic diseases [RCV000623598] Chr20:32435501 [GRCh38]
Chr20:31023304 [GRCh37]
Chr20:20q11.21
pathogenic
NM_001164603.1(ASXL1):c.-265G>T single nucleotide variant Bohring-Opitz syndrome [RCV000304119] Chr20:32358511 [GRCh38]
Chr20:30946314 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_001164603.1(ASXL1):c.-94C>G single nucleotide variant Bohring-Opitz syndrome [RCV000315984] Chr20:32358682 [GRCh38]
Chr20:30946485 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_000085.5(CLCNKB):c.101-50G>C microsatellite not provided [RCV001678722] Chr20:32358789..32358791 [GRCh38]
Chr20:30946592..30946594 [GRCh37]
Chr20:20q11.21
benign|likely benign
NM_015338.5(ASXL1):c.4603G>A (p.Val1535Ile) single nucleotide variant Bohring-Opitz syndrome [RCV000317983] Chr20:32437315 [GRCh38]
Chr20:31025118 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_001164603.1(ASXL1):c.-88_-86GCC[5] microsatellite Bohring-Opitz syndrome [RCV000333628] Chr20:32358685..32358686 [GRCh38]
Chr20:30946488..30946489 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.5(ASXL1):c.2796A>G (p.Lys932=) single nucleotide variant Bohring-Opitz syndrome [RCV000367745] Chr20:32435508 [GRCh38]
Chr20:31023311 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_001164603.1(ASXL1):c.-88G>C single nucleotide variant Bohring-Opitz syndrome [RCV000385827] Chr20:32358688 [GRCh38]
Chr20:30946491 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.5(ASXL1):c.*395C>T single nucleotide variant Bohring-Opitz syndrome [RCV000284863] Chr20:32437733 [GRCh38]
Chr20:31025536 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_001164603.1(ASXL1):c.-221C>T single nucleotide variant Bohring-Opitz syndrome [RCV000321769] Chr20:32358555 [GRCh38]
Chr20:30946358 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.5(ASXL1):c.1343T>C (p.Leu448Pro) single nucleotide variant Bohring-Opitz syndrome [RCV000370446] Chr20:32433541 [GRCh38]
Chr20:31021344 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.5(ASXL1):c.*1230C>T single nucleotide variant Bohring-Opitz syndrome [RCV000371164] Chr20:32438568 [GRCh38]
Chr20:31026371 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.5(ASXL1):c.2908A>G (p.Ser970Gly) single nucleotide variant Bohring-Opitz syndrome [RCV000309886] Chr20:32435620 [GRCh38]
Chr20:31023423 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_001164603.1(ASXL1):c.-178C>G single nucleotide variant Bohring-Opitz syndrome [RCV000355599] Chr20:32358598 [GRCh38]
Chr20:30946401 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.5(ASXL1):c.*547C>T single nucleotide variant Bohring-Opitz syndrome [RCV000339906] Chr20:32437885 [GRCh38]
Chr20:31025688 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.5(ASXL1):c.*1153T>C single nucleotide variant Bohring-Opitz syndrome [RCV000356344] Chr20:32438491 [GRCh38]
Chr20:31026294 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.5(ASXL1):c.3360G>A (p.Lys1120=) single nucleotide variant Bohring-Opitz syndrome [RCV000373924] Chr20:32436072 [GRCh38]
Chr20:31023875 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.5(ASXL1):c.991C>G (p.His331Asp) single nucleotide variant Bohring-Opitz syndrome [RCV000300567] Chr20:32432891 [GRCh38]
Chr20:31020694 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.5(ASXL1):c.*1185C>T single nucleotide variant Bohring-Opitz syndrome [RCV000312016] Chr20:32438523 [GRCh38]
Chr20:31026326 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_001164603.1(ASXL1):c.-32G>C single nucleotide variant Bohring-Opitz syndrome [RCV000290343] Chr20:32358744 [GRCh38]
Chr20:30946547 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.5(ASXL1):c.*1137C>T single nucleotide variant Bohring-Opitz syndrome [RCV000301480] Chr20:32438475 [GRCh38]
Chr20:31026278 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_001164603.1(ASXL1):c.-239C>G single nucleotide variant Bohring-Opitz syndrome [RCV000361115] Chr20:32358537 [GRCh38]
Chr20:30946340 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.5(ASXL1):c.2763_2770delinsCAA (p.Val922fs) indel Inborn genetic diseases [RCV000623209] Chr20:32435475..32435482 [GRCh38]
Chr20:31023278..31023285 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.6(ASXL1):c.4312C>T (p.Gln1438Ter) single nucleotide variant not provided [RCV000598608] Chr20:32437024 [GRCh38]
Chr20:31024827 [GRCh37]
Chr20:20q11.21
likely pathogenic
NM_015338.6(ASXL1):c.1492dup (p.Ala498fs) duplication not provided [RCV000723150] Chr20:32433688..32433689 [GRCh38]
Chr20:31021491..31021492 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.6(ASXL1):c.2495_2498del (p.Asp832fs) deletion not provided [RCV000723267] Chr20:32435206..32435209 [GRCh38]
Chr20:31023009..31023012 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.6(ASXL1):c.3894_3897dup (p.Gln1300fs) duplication not provided [RCV000414513] Chr20:32436604..32436605 [GRCh38]
Chr20:31024407..31024408 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.6(ASXL1):c.2336C>T (p.Pro779Leu) single nucleotide variant not provided [RCV000731750] Chr20:32435048 [GRCh38]
Chr20:31022851 [GRCh37]
Chr20:20q11.21
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 20q11.21(chr20:30947071-31052777)x1 copy number loss See cases [RCV000449244] Chr20:30947071..31052777 [GRCh37]
Chr20:20q11.21
likely pathogenic
NM_015338.6(ASXL1):c.4421T>C (p.Leu1474Pro) single nucleotide variant not provided [RCV000424358] Chr20:32437133 [GRCh38]
Chr20:31024936 [GRCh37]
Chr20:20q11.21
uncertain significance
GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857)x3 copy number gain See cases [RCV000448977] Chr20:24162775..31820857 [GRCh37]
Chr20:20p11.21-q11.21
likely pathogenic
NM_015338.6(ASXL1):c.114dup (p.Glu39fs) duplication not provided [RCV000481449] Chr20:32366439..32366440 [GRCh38]
Chr20:30954242..30954243 [GRCh37]
Chr20:20q11.21
likely pathogenic
NM_015338.6(ASXL1):c.2810del (p.Pro937fs) deletion not provided [RCV000481700] Chr20:32435519 [GRCh38]
Chr20:31023322 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.6(ASXL1):c.2966_2967del (p.Asp988_Ser989insTer) microsatellite not provided [RCV000481961] Chr20:32435676..32435677 [GRCh38]
Chr20:31023479..31023480 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.6(ASXL1):c.3039_3045dup (p.Ala1016delinsGlnTer) duplication not provided [RCV000483005] Chr20:32435748..32435749 [GRCh38]
Chr20:31023551..31023552 [GRCh37]
Chr20:20q11.21
likely pathogenic
NM_015338.6(ASXL1):c.1406dup (p.Ser470fs) duplication not provided [RCV000478898] Chr20:32433603..32433604 [GRCh38]
Chr20:31021406..31021407 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.6(ASXL1):c.2477del (p.Gly826fs) deletion not provided [RCV000479943] Chr20:32435188 [GRCh38]
Chr20:31022991 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.5(ASXL1):c.664G>A (p.Glu222Lys) single nucleotide variant Global developmental delay [RCV000503508]|Seizures [RCV000498145] Chr20:32429999 [GRCh38]
Chr20:31017802 [GRCh37]
Chr20:20q11.21
uncertain significance
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_015338.5(ASXL1):c.1117C>T (p.Gln373Ter) single nucleotide variant Inborn genetic diseases [RCV000622427] Chr20:32433315 [GRCh38]
Chr20:31021118 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.5(ASXL1):c.4127dup (p.Pro1377fs) duplication Inborn genetic diseases [RCV000622437] Chr20:32436833..32436834 [GRCh38]
Chr20:31024636..31024637 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.5(ASXL1):c.3202C>T (p.Arg1068Ter) single nucleotide variant Bohring-Opitz syndrome [RCV000655943] Chr20:32435914 [GRCh38]
Chr20:31023717 [GRCh37]
Chr20:20q11.21
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
NM_015338.6(ASXL1):c.3637_3640del (p.Leu1213fs) microsatellite not provided [RCV000627531] Chr20:32436345..32436348 [GRCh38]
Chr20:31024148..31024151 [GRCh37]
Chr20:20q11.21
pathogenic|likely pathogenic
NM_015338.6(ASXL1):c.3700C>T (p.Gln1234Ter) single nucleotide variant Bohring-Opitz syndrome [RCV000679929] Chr20:32436412 [GRCh38]
Chr20:31024215 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.6(ASXL1):c.4282TCT[1] (p.Ser1429del) microsatellite Bohring-Opitz syndrome [RCV000714849]|Myelodysplastic syndrome [RCV000714850] Chr20:32436992..32436994 [GRCh38]
Chr20:31024795..31024797 [GRCh37]
Chr20:20q11.21
uncertain significance
Single allele duplication not provided [RCV000677978] Chr20:17705775..31600738 [GRCh37]
Chr20:20p12.1-q11.21
pathogenic
NM_015338.6(ASXL1):c.1737C>T (p.Ile579=) single nucleotide variant not provided [RCV001571026] Chr20:32434449 [GRCh38]
Chr20:31022252 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.2759_2762dup (p.Val922fs) duplication Bohring-Opitz syndrome [RCV001548759] Chr20:32435469..32435470 [GRCh38]
Chr20:31023272..31023273 [GRCh37]
Chr20:20q11.21
pathogenic
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_015338.6(ASXL1):c.2475A>G (p.Lys825=) single nucleotide variant not provided [RCV001539819] Chr20:32435187 [GRCh38]
Chr20:31022990 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.3933T>C (p.Ala1311=) single nucleotide variant not provided [RCV000918351] Chr20:32436645 [GRCh38]
Chr20:31024448 [GRCh37]
Chr20:20q11.21
benign|likely benign
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) single nucleotide variant not provided [RCV001647681] Chr20:32436199 [GRCh38]
Chr20:31024002 [GRCh37]
Chr20:20q11.21
benign
NM_015338.6(ASXL1):c.144-261A>T single nucleotide variant not provided [RCV001545993] Chr20:32368754 [GRCh38]
Chr20:30956557 [GRCh37]
Chr20:20q11.21
likely benign
null deletion not provided [RCV001669006] Chr20:32358293 [GRCh38]
Chr20:30946096 [GRCh37]
Chr20:20q11.21
benign
NM_015338.6(ASXL1):c.1495C>T (p.Arg499Cys) single nucleotide variant not provided [RCV001548110] Chr20:32433693 [GRCh38]
Chr20:31021496 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.474G>A (p.Ala158=) single nucleotide variant not provided [RCV000975227] Chr20:32429340 [GRCh38]
Chr20:31017143 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.2790G>A (p.Trp930Ter) single nucleotide variant not provided [RCV000760833] Chr20:32435502 [GRCh38]
Chr20:31023305 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.6(ASXL1):c.1762C>T (p.Gln588Ter) single nucleotide variant not provided [RCV000760590] Chr20:32434474 [GRCh38]
Chr20:31022277 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.6(ASXL1):c.2077C>T (p.Arg693Ter) single nucleotide variant not provided [RCV000760645] Chr20:32434789 [GRCh38]
Chr20:31022592 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.6(ASXL1):c.1719+235A>G single nucleotide variant not provided [RCV001569416] Chr20:32434152 [GRCh38]
Chr20:31021955 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.3730A>G (p.Lys1244Glu) single nucleotide variant not provided [RCV000997768] Chr20:32436442 [GRCh38]
Chr20:31024245 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.6(ASXL1):c.540C>T (p.Asn180=) single nucleotide variant not provided [RCV000880935] Chr20:32429406 [GRCh38]
Chr20:31017209 [GRCh37]
Chr20:20q11.21
benign|likely benign
NM_015338.6(ASXL1):c.4146C>T (p.Ala1382=) single nucleotide variant not provided [RCV000902689] Chr20:32436858 [GRCh38]
Chr20:31024661 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.1203C>G (p.Thr401=) single nucleotide variant not provided [RCV000925676] Chr20:32433401 [GRCh38]
Chr20:31021204 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.2934G>A (p.Val978=) single nucleotide variant not provided [RCV000927587] Chr20:32435646 [GRCh38]
Chr20:31023449 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.2895AGG[1] (p.Gly967del) microsatellite not provided [RCV000882691] Chr20:32435606..32435608 [GRCh38]
Chr20:31023409..31023411 [GRCh37]
Chr20:20q11.21
benign
NM_015338.6(ASXL1):c.2711A>G (p.Asn904Ser) single nucleotide variant not provided [RCV000966675] Chr20:32435423 [GRCh38]
Chr20:31023226 [GRCh37]
Chr20:20q11.21
benign
NM_015338.6(ASXL1):c.547C>T (p.His183Tyr) single nucleotide variant not provided [RCV000901208] Chr20:32429413 [GRCh38]
Chr20:31017216 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.2731C>T (p.Pro911Ser) single nucleotide variant not provided [RCV000903822] Chr20:32435443 [GRCh38]
Chr20:31023246 [GRCh37]
Chr20:20q11.21
benign
NM_015338.6(ASXL1):c.594G>A (p.Glu198=) single nucleotide variant not provided [RCV000905329] Chr20:32429929 [GRCh38]
Chr20:31017732 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.2671G>A (p.Val891Ile) single nucleotide variant not provided [RCV000906465] Chr20:32435383 [GRCh38]
Chr20:31023186 [GRCh37]
Chr20:20q11.21
benign
NM_015338.6(ASXL1):c.1465C>G (p.Arg489Gly) single nucleotide variant not provided [RCV000922405] Chr20:32433663 [GRCh38]
Chr20:31021466 [GRCh37]
Chr20:20q11.21
benign|likely benign
NM_015338.6(ASXL1):c.2266G>A (p.Asp756Asn) single nucleotide variant not provided [RCV000901334] Chr20:32434978 [GRCh38]
Chr20:31022781 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.1437C>T (p.Pro479=) single nucleotide variant not provided [RCV000879736] Chr20:32433635 [GRCh38]
Chr20:31021438 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.3637del (p.Leu1213fs) deletion Bohring-Opitz syndrome [RCV000779755] Chr20:32436347 [GRCh38]
Chr20:31024150 [GRCh37]
Chr20:20q11.21
likely pathogenic
NM_015338.5(ASXL1):c.1657G>T (p.Glu553Ter) single nucleotide variant Bohring-Opitz syndrome [RCV000778628] Chr20:32433855 [GRCh38]
Chr20:31021658 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.6(ASXL1):c.4060G>T (p.Glu1354Ter) single nucleotide variant Bohring-Opitz syndrome [RCV000779754] Chr20:32436772 [GRCh38]
Chr20:31024575 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.6(ASXL1):c.2127C>T (p.Ala709=) single nucleotide variant not provided [RCV000896955] Chr20:32434839 [GRCh38]
Chr20:31022642 [GRCh37]
Chr20:20q11.21
benign
NM_015338.6(ASXL1):c.3384C>T (p.Asp1128=) single nucleotide variant not provided [RCV000898099] Chr20:32436096 [GRCh38]
Chr20:31023899 [GRCh37]
Chr20:20q11.21
benign
NM_015338.6(ASXL1):c.630G>T (p.Leu210=) single nucleotide variant not provided [RCV000897531] Chr20:32429965 [GRCh38]
Chr20:31017768 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.1898A>G (p.His633Arg) single nucleotide variant not provided [RCV000918225] Chr20:32434610 [GRCh38]
Chr20:31022413 [GRCh37]
Chr20:20q11.21
benign|likely benign
NM_015338.6(ASXL1):c.1331C>T (p.Ser444Leu) single nucleotide variant not provided [RCV000904581] Chr20:32433529 [GRCh38]
Chr20:31021332 [GRCh37]
Chr20:20q11.21
benign|likely benign
NM_015338.6(ASXL1):c.4281T>G (p.Pro1427=) single nucleotide variant not provided [RCV000983364] Chr20:32436993 [GRCh38]
Chr20:31024796 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.2618C>T (p.Pro873Leu) single nucleotide variant Intellectual disability [RCV001252174]|not provided [RCV000909760] Chr20:32435330 [GRCh38]
Chr20:31023133 [GRCh37]
Chr20:20q11.21
benign|likely benign
NM_015338.6(ASXL1):c.4563G>A (p.Ala1521=) single nucleotide variant not provided [RCV000921820] Chr20:32437275 [GRCh38]
Chr20:31025078 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.4183C>G (p.Leu1395Val) single nucleotide variant not provided [RCV000896760] Chr20:32436895 [GRCh38]
Chr20:31024698 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.369C>T (p.Asn123=) single nucleotide variant not provided [RCV000919736] Chr20:32428244 [GRCh38]
Chr20:31016047 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.2416_2417dup (p.Val807fs) duplication Bohring-Opitz syndrome [RCV000856763] Chr20:32435126..32435127 [GRCh38]
Chr20:31022929..31022930 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.6(ASXL1):c.4521G>T (p.Ala1507=) single nucleotide variant not provided [RCV000914038] Chr20:32437233 [GRCh38]
Chr20:31025036 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.3769del (p.Ala1257fs) deletion Bohring-Opitz syndrome [RCV000824828] Chr20:32436481 [GRCh38]
Chr20:31024284 [GRCh37]
Chr20:20q11.21
likely pathogenic
NM_015338.6(ASXL1):c.3460G>A (p.Gly1154Ser) single nucleotide variant Bohring-Opitz syndrome [RCV000990297] Chr20:32436172 [GRCh38]
Chr20:31023975 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.6(ASXL1):c.1656T>C (p.Ile552=) single nucleotide variant not provided [RCV000916832] Chr20:32433854 [GRCh38]
Chr20:31021657 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.1543G>A (p.Val515Met) single nucleotide variant not provided [RCV000897543] Chr20:32433741 [GRCh38]
Chr20:31021544 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.3438G>A (p.Ser1146=) single nucleotide variant not provided [RCV000941128] Chr20:32436150 [GRCh38]
Chr20:31023953 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.2670C>T (p.Leu890=) single nucleotide variant not provided [RCV000940595] Chr20:32435382 [GRCh38]
Chr20:31023185 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.2820G>A (p.Leu940=) single nucleotide variant not provided [RCV000940916] Chr20:32435532 [GRCh38]
Chr20:31023335 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.2094G>A (p.Pro698=) single nucleotide variant not provided [RCV000918893] Chr20:32434806 [GRCh38]
Chr20:31022609 [GRCh37]
Chr20:20q11.21
likely benign
GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3 copy number gain not provided [RCV000849735] Chr20:29833608..35087952 [GRCh37]
Chr20:20q11.21-11.23
pathogenic
NM_015338.6(ASXL1):c.1426_1427dup (p.Glu477fs) duplication Bohring-Opitz syndrome [RCV000990296] Chr20:32433623..32433624 [GRCh38]
Chr20:31021426..31021427 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.6(ASXL1):c.4196dup (p.Leu1399fs) duplication not provided [RCV001009139] Chr20:32436906..32436907 [GRCh38]
Chr20:31024709..31024710 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.6(ASXL1):c.4345C>G (p.Leu1449Val) single nucleotide variant not provided [RCV001213767] Chr20:32437057 [GRCh38]
Chr20:31024860 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.6(ASXL1):c.2862C>A (p.Asp954Glu) single nucleotide variant Myelodysplastic syndrome [RCV001195757] Chr20:32435574 [GRCh38]
Chr20:31023377 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.6(ASXL1):c.2036dup (p.Gly680fs) duplication Bohring-Opitz syndrome [RCV000995699] Chr20:32434744..32434745 [GRCh38]
Chr20:31022547..31022548 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.6(ASXL1):c.1569dup (p.Arg524fs) duplication not provided [RCV001570497] Chr20:32433766..32433767 [GRCh38]
Chr20:31021569..31021570 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.6(ASXL1):c.2537G>A (p.Ser846Asn) single nucleotide variant not provided [RCV001578218] Chr20:32435249 [GRCh38]
Chr20:31023052 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.979+216T>C single nucleotide variant not provided [RCV001548143] Chr20:32431895 [GRCh38]
Chr20:31019698 [GRCh37]
Chr20:20q11.21
likely benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001686753] Chr20:32433718 [GRCh38]
Chr20:31021521 [GRCh37]
Chr20:20q11.21
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) deletion not provided [RCV001596644] Chr20:32436827..32436843 [GRCh38]
Chr20:31024630..31024646 [GRCh37]
Chr20:20q11.21
pathogenic
null single nucleotide variant not provided [RCV001616192] Chr20:32429703 [GRCh38]
Chr20:31017506 [GRCh37]
Chr20:20q11.21
benign
NM_015338.6(ASXL1):c.246G>A (p.Thr82=) single nucleotide variant not provided [RCV001550919] Chr20:32369117 [GRCh38]
Chr20:30956920 [GRCh37]
Chr20:20q11.21
likely benign
null single nucleotide variant not provided [RCV001587045] Chr20:32431414 [GRCh38]
Chr20:31019217 [GRCh37]
Chr20:20q11.21
likely benign
null single nucleotide variant not provided [RCV001589487] Chr20:32435929 [GRCh38]
Chr20:31023732 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.1383G>A (p.Leu461=) single nucleotide variant not provided [RCV001577729] Chr20:32433581 [GRCh38]
Chr20:31021384 [GRCh37]
Chr20:20q11.21
likely benign
null single nucleotide variant not provided [RCV001676400] Chr20:32358772 [GRCh38]
Chr20:30946575 [GRCh37]
Chr20:20q11.21
benign
NM_015338.6(ASXL1):c.1997dup (p.Gly666_Asp667insTer) duplication not provided [RCV001557927] Chr20:32434707..32434708 [GRCh38]
Chr20:31022510..31022511 [GRCh37]
Chr20:20q11.21
likely pathogenic
NM_015338.6(ASXL1):c.2417C>T (p.Thr806Ile) single nucleotide variant not provided [RCV001546116] Chr20:32435129 [GRCh38]
Chr20:31022932 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.4122G>C (p.Val1374=) single nucleotide variant not provided [RCV001570640] Chr20:32436834 [GRCh38]
Chr20:31024637 [GRCh37]
Chr20:20q11.21
likely benign
null single nucleotide variant not provided [RCV001582990] Chr20:32358776 [GRCh38]
Chr20:30946579 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.6(ASXL1):c.3359A>T (p.Lys1120Met) single nucleotide variant not provided [RCV001552593] Chr20:32436071 [GRCh38]
Chr20:31023874 [GRCh37]
Chr20:20q11.21
likely benign
null single nucleotide variant not provided [RCV001617502] Chr20:32427840 [GRCh38]
Chr20:31015643 [GRCh37]
Chr20:20q11.21
benign
NM_015338.6(ASXL1):c.4470G>T (p.Leu1490Phe) single nucleotide variant not provided [RCV000918743] Chr20:32437182 [GRCh38]
Chr20:31024985 [GRCh37]
Chr20:20q11.21
benign|likely benign
NM_015338.6(ASXL1):c.4407A>G (p.Gly1469=) single nucleotide variant not provided [RCV000907720] Chr20:32437119 [GRCh38]
Chr20:31024922 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.4243C>G (p.Arg1415Gly) single nucleotide variant not provided [RCV000911039] Chr20:32436955 [GRCh38]
Chr20:31024758 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.3399C>G (p.Ser1133=) single nucleotide variant not provided [RCV000979993] Chr20:32436111 [GRCh38]
Chr20:31023914 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.1323T>C (p.Ser441=) single nucleotide variant not provided [RCV000940532] Chr20:32433521 [GRCh38]
Chr20:31021324 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.1831G>A (p.Ala611Thr) single nucleotide variant not provided [RCV000909954] Chr20:32434543 [GRCh38]
Chr20:31022346 [GRCh37]
Chr20:20q11.21
benign
NM_015338.6(ASXL1):c.1710G>A (p.Pro570=) single nucleotide variant not provided [RCV000897421] Chr20:32433908 [GRCh38]
Chr20:31021711 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.1633C>T (p.Arg545Cys) single nucleotide variant not provided [RCV000901456] Chr20:32433831 [GRCh38]
Chr20:31021634 [GRCh37]
Chr20:20q11.21
benign|likely benign
NM_015338.6(ASXL1):c.3148A>G (p.Met1050Val) single nucleotide variant not provided [RCV000909457] Chr20:32435860 [GRCh38]
Chr20:31023663 [GRCh37]
Chr20:20q11.21
benign
NM_015338.6(ASXL1):c.2059T>C (p.Cys687Arg) single nucleotide variant not provided [RCV000887634] Chr20:32434771 [GRCh38]
Chr20:31022574 [GRCh37]
Chr20:20q11.21
benign|likely benign
NM_015338.6(ASXL1):c.225T>C (p.Pro75=) single nucleotide variant not provided [RCV000926451] Chr20:32369096 [GRCh38]
Chr20:30956899 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.3739C>T (p.Arg1247Cys) single nucleotide variant not provided [RCV000894174] Chr20:32436451 [GRCh38]
Chr20:31024254 [GRCh37]
Chr20:20q11.21
benign|likely benign
NM_015338.6(ASXL1):c.3315C>T (p.Asn1105=) single nucleotide variant not provided [RCV000889003] Chr20:32436027 [GRCh38]
Chr20:31023830 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.3273C>T (p.Ala1091=) single nucleotide variant not provided [RCV000909625] Chr20:32435985 [GRCh38]
Chr20:31023788 [GRCh37]
Chr20:20q11.21
benign
NM_015338.6(ASXL1):c.1014A>G (p.Arg338=) single nucleotide variant not provided [RCV000910924] Chr20:32432914 [GRCh38]
Chr20:31020717 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.4443T>G (p.Gly1481=) single nucleotide variant not provided [RCV000997769] Chr20:32437155 [GRCh38]
Chr20:31024958 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.6(ASXL1):c.1654A>G (p.Ile552Val) single nucleotide variant not provided [RCV000912334] Chr20:32433852 [GRCh38]
Chr20:31021655 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.1671C>G (p.Thr557=) single nucleotide variant not provided [RCV000912443] Chr20:32433869 [GRCh38]
Chr20:31021672 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.1923C>T (p.Ile641=) single nucleotide variant not provided [RCV000913986] Chr20:32434635 [GRCh38]
Chr20:31022438 [GRCh37]
Chr20:20q11.21
benign|likely benign
NM_015338.6(ASXL1):c.3966G>A (p.Pro1322=) single nucleotide variant not provided [RCV000935182] Chr20:32436678 [GRCh38]
Chr20:31024481 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.3540T>C (p.Asp1180=) single nucleotide variant not provided [RCV000912504] Chr20:32436252 [GRCh38]
Chr20:31024055 [GRCh37]
Chr20:20q11.21
benign|likely benign
NM_015338.6(ASXL1):c.4494G>A (p.Thr1498=) single nucleotide variant not provided [RCV001560135] Chr20:32437206 [GRCh38]
Chr20:31025009 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.1742C>T (p.Pro581Leu) single nucleotide variant not provided [RCV001546610] Chr20:32434454 [GRCh38]
Chr20:31022257 [GRCh37]
Chr20:20q11.21
likely benign
null single nucleotide variant not provided [RCV001594338] Chr20:32429316 [GRCh38]
Chr20:31017119 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.2593G>A (p.Glu865Lys) single nucleotide variant not provided [RCV001576990] Chr20:32435305 [GRCh38]
Chr20:31023108 [GRCh37]
Chr20:20q11.21
likely benign
null single nucleotide variant not provided [RCV001619318] Chr20:32428511 [GRCh38]
Chr20:31016314 [GRCh37]
Chr20:20q11.21
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001687932] Chr20:32433672 [GRCh38]
Chr20:31021475 [GRCh37]
Chr20:20q11.21
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001688972] Chr20:32435135 [GRCh38]
Chr20:31022938 [GRCh37]
Chr20:20q11.21
benign
NM_004360.5(CDH1):c.49-8C>T single nucleotide variant not provided [RCV001715418] Chr20:32366492 [GRCh38]
Chr20:30954295 [GRCh37]
Chr20:20q11.21
benign
NM_004360.5(CDH1):c.49-8C>T single nucleotide variant not provided [RCV001715160] Chr20:32431922 [GRCh38]
Chr20:31019725 [GRCh37]
Chr20:20q11.21
benign
NM_015338.6(ASXL1):c.314C>T (p.Thr105Met) single nucleotide variant Intellectual disability [RCV001252173] Chr20:32428189 [GRCh38]
Chr20:31015992 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.4279C>T (p.Pro1427Ser) single nucleotide variant Microcephaly [RCV001252764] Chr20:32436991 [GRCh38]
Chr20:31024794 [GRCh37]
Chr20:20q11.21
uncertain significance
null single nucleotide variant not provided [RCV001585481] Chr20:32429642 [GRCh38]
Chr20:31017445 [GRCh37]
Chr20:20q11.21
likely benign
null single nucleotide variant not provided [RCV001614484] Chr20:32358884 [GRCh38]
Chr20:30946687 [GRCh37]
Chr20:20q11.21
benign
NM_015338.6(ASXL1):c.2219C>T (p.Thr740Ile) single nucleotide variant not provided [RCV001564787] Chr20:32434931 [GRCh38]
Chr20:31022734 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.1907C>T (p.Ala636Val) single nucleotide variant not provided [RCV001528679] Chr20:32434619 [GRCh38]
Chr20:31022422 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.3238C>T (p.Leu1080=) single nucleotide variant not provided [RCV001566953] Chr20:32435950 [GRCh38]
Chr20:31023753 [GRCh37]
Chr20:20q11.21
likely benign
NC_000020.10:g.(?_30795725)_(31395729_?)dup duplication Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001032627] Chr20:30795725..31395729 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006736.6(DNAJB2):c.195C>T (p.Tyr65=) deletion Bohring-Opitz syndrome [RCV001706715]|Juvenile myelomonocytic leukemia [RCV001003812] Chr20:32434600..32434622 [GRCh38]
Chr20:31022403..31022425 [GRCh37]
Chr20:20q11.21
pathogenic|likely pathogenic
NM_015338.6(ASXL1):c.1720-1G>A single nucleotide variant Bohring-Opitz syndrome [RCV001090157] Chr20:32434431 [GRCh38]
Chr20:31022234 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.6(ASXL1):c.1879G>T (p.Ala627Ser) single nucleotide variant not provided [RCV001203690] Chr20:32434591 [GRCh38]
Chr20:31022394 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.6(ASXL1):c.1357G>T (p.Glu453Ter) single nucleotide variant not provided [RCV001203691] Chr20:32433555 [GRCh38]
Chr20:31021358 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.6(ASXL1):c.719-100C>T single nucleotide variant Bohring-Opitz syndrome [RCV001553861]|not provided [RCV001655882] Chr20:32431221 [GRCh38]
Chr20:31019024 [GRCh37]
Chr20:20q11.21
benign
NM_015338.6(ASXL1):c.3115C>T (p.Gln1039Ter) single nucleotide variant Microcephaly [RCV001252687] Chr20:32435827 [GRCh38]
Chr20:31023630 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.6(ASXL1):c.4048C>T (p.Gln1350Ter) single nucleotide variant Bohring-Opitz syndrome [RCV001253324] Chr20:32436760 [GRCh38]
Chr20:31024563 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.6(ASXL1):c.3856C>T (p.Gln1286Ter) single nucleotide variant Rubinstein taybi like syndrome [RCV001261775] Chr20:32436568 [GRCh38]
Chr20:31024371 [GRCh37]
Chr20:20q11.21
likely pathogenic
NM_015338.6(ASXL1):c.643G>A (p.Ala215Thr) single nucleotide variant Bohring-Opitz syndrome [RCV001293689] Chr20:32429978 [GRCh38]
Chr20:31017781 [GRCh37]
Chr20:20q11.21
likely pathogenic
NM_015338.6(ASXL1):c.3437C>A (p.Ser1146Ter) single nucleotide variant Bohring-Opitz syndrome [RCV001333853] Chr20:32436149 [GRCh38]
Chr20:31023952 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.6(ASXL1):c.3583dup (p.Gln1195fs) duplication Neurodevelopmental abnormality [RCV001264722] Chr20:32436292..32436293 [GRCh38]
Chr20:31024095..31024096 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.6(ASXL1):c.3425A>G (p.Gln1142Arg) single nucleotide variant Bohring-Opitz syndrome [RCV001262671] Chr20:32436137 [GRCh38]
Chr20:31023940 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.6(ASXL1):c.4224dup (p.Pro1409fs) duplication not provided [RCV001281591] Chr20:32436935..32436936 [GRCh38]
Chr20:31024738..31024739 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.6(ASXL1):c.658C>T (p.Gln220Ter) single nucleotide variant Bohring-Opitz syndrome [RCV001293687] Chr20:32429993 [GRCh38]
Chr20:31017796 [GRCh37]
Chr20:20q11.21
likely pathogenic
NM_015338.6(ASXL1):c.1589C>T (p.Ala530Val) single nucleotide variant Bohring-Opitz syndrome [RCV001333852] Chr20:32433787 [GRCh38]
Chr20:31021590 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.6(ASXL1):c.1045C>T (p.Gln349Ter) single nucleotide variant Autism spectrum disorder [RCV001291374] Chr20:32432945 [GRCh38]
Chr20:31020748 [GRCh37]
Chr20:20q11.21
likely pathogenic
NC_000020.10:g.(?_30795725)_(31395729_?)dup duplication Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001300701] Chr20:30795725..31395729 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.6(ASXL1):c.1225A>G (p.Lys409Glu) single nucleotide variant Bohring-Opitz syndrome [RCV001332061] Chr20:32433423 [GRCh38]
Chr20:31021226 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.6(ASXL1):c.3946C>G (p.Arg1316Gly) single nucleotide variant Bohring-Opitz syndrome [RCV001332062] Chr20:32436658 [GRCh38]
Chr20:31024461 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.6(ASXL1):c.4207C>T (p.Pro1403Ser) single nucleotide variant not provided [RCV001357892] Chr20:32436919 [GRCh38]
Chr20:31024722 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.6(ASXL1):c.4118_4119del (p.Phe1373fs) deletion not provided [RCV001281601] Chr20:32436828..32436829 [GRCh38]
Chr20:31024631..31024632 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.6(ASXL1):c.1567A>T (p.Lys523Ter) single nucleotide variant Bohring-Opitz syndrome [RCV001449799] Chr20:32433765 [GRCh38]
Chr20:31021568 [GRCh37]
Chr20:20q11.21
likely pathogenic
NM_015338.6(ASXL1):c.1387A>G (p.Ser463Gly) single nucleotide variant Bohring-Opitz syndrome [RCV001333851] Chr20:32433585 [GRCh38]
Chr20:31021388 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_015338.6(ASXL1):c.1671C>T (p.Thr557=) single nucleotide variant not provided [RCV001502748] Chr20:32433869 [GRCh38]
Chr20:31021672 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.1719+1G>A single nucleotide variant Bohring-Opitz syndrome [RCV001528120] Chr20:32433918 [GRCh38]
Chr20:31021721 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.6(ASXL1):c.1957G>A (p.Gly653Arg) single nucleotide variant not provided [RCV001530708] Chr20:32434669 [GRCh38]
Chr20:31022472 [GRCh37]
Chr20:20q11.21
benign
NM_015338.6(ASXL1):c.1770_1773dup (p.Gln592fs) duplication not provided [RCV001390595] Chr20:32434479..32434480 [GRCh38]
Chr20:31022282..31022283 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.6(ASXL1):c.373+16T>G single nucleotide variant not provided [RCV001519656] Chr20:32428264 [GRCh38]
Chr20:31016067 [GRCh37]
Chr20:20q11.21
benign
NM_015338.6(ASXL1):c.2222A>T (p.Asp741Val) single nucleotide variant not provided [RCV001538093] Chr20:32434934 [GRCh38]
Chr20:31022737 [GRCh37]
Chr20:20q11.21
benign
null single nucleotide variant not provided [RCV001615524] Chr20:32371901 [GRCh38]
Chr20:30959704 [GRCh37]
Chr20:20q11.21
benign
null single nucleotide variant not provided [RCV001611673] Chr20:32358199 [GRCh38]
Chr20:30946002 [GRCh37]
Chr20:20q11.21
benign
NM_015338.6(ASXL1):c.1929G>A (p.Gly643=) single nucleotide variant not provided [RCV001522673] Chr20:32434641 [GRCh38]
Chr20:31022444 [GRCh37]
Chr20:20q11.21
benign
null single nucleotide variant not provided [RCV001696521] Chr20:32435947 [GRCh38]
Chr20:31023750 [GRCh37]
Chr20:20q11.21
benign
null single nucleotide variant not provided [RCV001619134] Chr20:32367397 [GRCh38]
Chr20:30955200 [GRCh37]
Chr20:20q11.21
benign
NM_015338.6(ASXL1):c.57+19G>A single nucleotide variant not provided [RCV001519050] Chr20:32358851 [GRCh38]
Chr20:30946654 [GRCh37]
Chr20:20q11.21
benign|likely benign
NM_015338.6(ASXL1):c.57+219dup duplication not provided [RCV001539973] Chr20:32359043..32359044 [GRCh38]
Chr20:30946846..30946847 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.1085+13G>A single nucleotide variant not provided [RCV001506138] Chr20:32432998 [GRCh38]
Chr20:31020801 [GRCh37]
Chr20:20q11.21
likely benign
NM_015338.6(ASXL1):c.3427A>C (p.Ser1143Arg) single nucleotide variant not provided [RCV001518905] Chr20:32436139 [GRCh38]
Chr20:31023942 [GRCh37]
Chr20:20q11.21
benign|likely benign
NM_015338.6(ASXL1):c.1720-2A>G single nucleotide variant not provided [RCV001389016] Chr20:32434430 [GRCh38]
Chr20:31022233 [GRCh37]
Chr20:20q11.21
pathogenic
NM_015338.6(ASXL1):c.472-5C>T single nucleotide variant not provided [RCV001415935] Chr20:32429333 [GRCh38]
Chr20:31017136 [GRCh37]
Chr20:20q11.21
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18318 AgrOrtholog
COSMIC ASXL1 COSMIC
Ensembl Genes ENSG00000171456 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000305119 UniProtKB/TrEMBL
  ENSP00000364839 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000364841 UniProtKB/TrEMBL
  ENSP00000438654 UniProtKB/TrEMBL
  ENSP00000451216 UniProtKB/TrEMBL
  ENSP00000480361 UniProtKB/TrEMBL
  ENSP00000480487 UniProtKB/Swiss-Prot
  ENSP00000481978 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000493987 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000494077 UniProtKB/TrEMBL
  ENSP00000494813 UniProtKB/TrEMBL
  ENSP00000495003 UniProtKB/TrEMBL
  ENSP00000495053 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000495488 UniProtKB/TrEMBL
  ENSP00000495495 UniProtKB/TrEMBL
  ENSP00000496042 UniProtKB/TrEMBL
  ENSP00000497010 UniProtKB/TrEMBL
  ENSP00000499150 UniProtKB/TrEMBL
Ensembl Transcript ENST00000306058 UniProtKB/TrEMBL
  ENST00000375687 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000375689 UniProtKB/TrEMBL
  ENST00000497249 UniProtKB/TrEMBL
  ENST00000542461 UniProtKB/TrEMBL
  ENST00000555343 UniProtKB/TrEMBL
  ENST00000613218 UniProtKB/Swiss-Prot
  ENST00000620121 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000642676 UniProtKB/TrEMBL
  ENST00000643168 UniProtKB/TrEMBL
  ENST00000644587 UniProtKB/TrEMBL
  ENST00000645035 UniProtKB/TrEMBL
  ENST00000645337 UniProtKB/TrEMBL
  ENST00000645688 UniProtKB/TrEMBL
  ENST00000646367 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000646985 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000649901 UniProtKB/TrEMBL
  ENST00000651418 UniProtKB/TrEMBL
GTEx ENSG00000171456 GTEx
HGNC ID HGNC:18318 ENTREZGENE
Human Proteome Map ASXL1 Human Proteome Map
InterPro ASX-like_PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ASX/ASX-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ASXH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ASXL1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DEUBAD_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HB1/Asxl_HTH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:171023 UniProtKB/Swiss-Prot
NCBI Gene 171023 ENTREZGENE
OMIM 605039 OMIM
  612990 OMIM
  614286 OMIM
PANTHER PTHR13578 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13578:SF19 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ASXH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HARE-HTH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PHD_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25078 PharmGKB
PROSITE DEUBAD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HTH_HARE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WWN0_HUMAN UniProtKB/TrEMBL
  A0A2R8Y4U9_HUMAN UniProtKB/TrEMBL
  A0A2R8Y5U1_HUMAN UniProtKB/TrEMBL
  A0A2R8Y627_HUMAN UniProtKB/TrEMBL
  A0A2R8Y6F0_HUMAN UniProtKB/TrEMBL
  A0A2R8Y6V0_HUMAN UniProtKB/TrEMBL
  A0A494C1R1_HUMAN UniProtKB/TrEMBL
  ASXL1_HUMAN UniProtKB/Swiss-Prot
  H0YJC9_HUMAN UniProtKB/TrEMBL
  Q498B9 ENTREZGENE, UniProtKB/TrEMBL
  Q5JWS8_HUMAN UniProtKB/TrEMBL
  Q6P1M8_HUMAN UniProtKB/TrEMBL
  Q76L82_HUMAN UniProtKB/TrEMBL
  Q8IXJ9 ENTREZGENE
UniProt Secondary A6NIZ6 UniProtKB/TrEMBL
  B2RP59 UniProtKB/Swiss-Prot
  Q5JWS9 UniProtKB/Swiss-Prot
  Q8IYY7 UniProtKB/Swiss-Prot
  Q9H466 UniProtKB/Swiss-Prot
  Q9NQF8 UniProtKB/Swiss-Prot
  Q9UFJ0 UniProtKB/Swiss-Prot
  Q9UFP8 UniProtKB/Swiss-Prot
  Q9Y2I4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-05-15 ASXL1  ASXL transcriptional regulator 1    additional sex combs like 1, transcriptional regulator  Symbol and/or name change 5135510 APPROVED
2015-12-01 ASXL1  additional sex combs like 1, transcriptional regulator    additional sex combs like transcriptional regulator 1  Symbol and/or name change 5135510 APPROVED
2014-06-24 ASXL1  additional sex combs like transcriptional regulator 1    additional sex combs like 1 (Drosophila)  Symbol and/or name change 5135510 APPROVED