NIPBL (NIPBL cohesin loading factor) - Rat Genome Database

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Gene: NIPBL (NIPBL cohesin loading factor) Homo sapiens
Analyze
Symbol: NIPBL
Name: NIPBL cohesin loading factor
RGD ID: 1604032
HGNC Page HGNC
Description: Enables several functions, including chromo shadow domain binding activity; histone deacetylase binding activity; and protein C-terminus binding activity. Involved in several processes, including animal organ development; cellular response to X-ray; and sister chromatid cohesion. Located in cytosol and nucleoplasm. Part of Scc2-Scc4 cohesin loading complex. Implicated in Cornelia de Lange syndrome 1.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CDLS; CDLS1; delangin; DKFZp434L1319; FLJ11203; FLJ12597; FLJ13354; FLJ13648; FLJ44854; IDN3; IDN3-B; NIPBL, cohesin loading factor; Nipped-B homolog; Nipped-B homolog (Drosophila); nipped-B-like protein; Scc2; SCC2 homolog; sister chromatid cohesion 2 homolog
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 Ensembl536,876,769 - 37,066,413 (+)EnsemblGRCh38hg38GRCh38
GRCh38536,876,769 - 37,066,413 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37536,876,871 - 37,066,515 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36536,912,742 - 37,101,678 (+)NCBINCBI36hg18NCBI36
Celera536,763,790 - 36,952,889 (+)NCBI
Cytogenetic Map5p13.2NCBI
HuRef536,829,492 - 37,018,602 (+)NCBIHuRef
CHM1_1536,879,597 - 37,068,738 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
brain development  (IBA,IMP)
cellular protein localization  (IMP)
cellular response to DNA damage stimulus  (IMP)
cellular response to X-ray  (IMP)
cognition  (IMP)
cohesin loading  (IDA)
developmental growth  (IMP)
digestive tract development  (IBA)
ear morphogenesis  (IMP)
embryonic cranial skeleton morphogenesis  (ISO)
embryonic digestive tract morphogenesis  (IMP)
embryonic forelimb morphogenesis  (IMP)
embryonic viscerocranium morphogenesis  (IBA,ISO)
establishment of mitotic sister chromatid cohesion  (IBA)
establishment of protein localization to chromatin  (IBA)
external genitalia morphogenesis  (IMP)
eye morphogenesis  (IMP)
face morphogenesis  (IMP)
fat cell differentiation  (IEA,ISO)
forelimb morphogenesis  (IMP)
gall bladder development  (IMP)
heart development  (ISO)
heart morphogenesis  (IBA,IMP)
maintenance of mitotic sister chromatid cohesion  (IMP)
metanephros development  (NAS)
mitotic cohesin loading  (IEA)
mitotic sister chromatid cohesion  (IMP)
negative regulation of transcription by RNA polymerase II  (IDA)
negative regulation of transcription, DNA-templated  (IDA)
outflow tract morphogenesis  (IMP)
positive regulation of histone deacetylation  (IDA)
positive regulation of multicellular organism growth  (IEA,ISO)
positive regulation of neuron migration  (ISS)
positive regulation of ossification  (IEA,ISO)
positive regulation of transcription by RNA polymerase II  (IEA,ISO)
regulation of developmental growth  (IMP)
regulation of embryonic development  (IMP)
regulation of gene expression  (IEA)
regulation of hair cycle  (IMP)
regulation of transcription by RNA polymerase II  (ISO)
replication-born double-strand break repair via sister chromatid exchange  (IBA)
sensory perception of sound  (IMP)
stem cell population maintenance  (IEA,ISO)
uterus morphogenesis  (IMP)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
2-3 toe syndactyly  (IAGP)
Abnormal incisura morphology  (IAGP)
Abnormal umbilicus morphology  (IAGP)
Abnormality of brain morphology  (IAGP)
Abnormality of the uterus  (IAGP)
Abnormally low-pitched voice  (IAGP)
Anteverted nares  (IAGP)
Anxiety  (IAGP)
Aplasia/Hypoplasia of the cerebellum  (IAGP)
Astigmatism  (IAGP)
Atresia of the external auditory canal  (IAGP)
Atrial septal defect  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autism  (IAGP)
Autosomal dominant inheritance  (IAGP)
Behavioral abnormality  (IAGP)
Bilateral single transverse palmar creases  (IAGP)
Blepharitis  (IAGP)
Brachycephaly  (IAGP)
Brachydactyly  (IAGP)
Cataract  (IAGP)
Cerebral cortical atrophy  (IAGP)
Choanal atresia  (IAGP)
Cleft palate  (IAGP)
Cleft upper lip  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Conductive hearing impairment  (IAGP)
Congenital diaphragmatic hernia  (IAGP)
Cryptorchidism  (IAGP)
Curly eyelashes  (IAGP)
Cutis marmorata  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed puberty  (IAGP)
Delayed skeletal maturation  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Dislocated radial head  (IAGP)
Downturned corners of mouth  (IAGP)
Duplication of internal organs  (IAGP)
Ectopic kidney  (IAGP)
Elbow dislocation  (IAGP)
Elbow flexion contracture  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties in infancy  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hirsutism  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Hand oligodactyly  (IAGP)
Hiatus hernia  (IAGP)
High palate  (IAGP)
High, narrow palate  (IAGP)
Highly arched eyebrow  (IAGP)
Hip dislocation  (IAGP)
Hip dysplasia  (IAGP)
Hirsutism  (IAGP)
Hypertonia  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the radius  (IAGP)
Hypoplastic labia majora  (IAGP)
Hypoplastic male external genitalia  (IAGP)
Hypoplastic nipples  (IAGP)
Hypoplastic radial head  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Increased nuchal translucency  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, severe  (IAGP)
Intestinal malrotation  (IAGP)
Intrauterine growth retardation  (IAGP)
Joint stiffness  (IAGP)
Limited elbow extension  (IAGP)
Long eyelashes  (IAGP)
Long philtrum  (IAGP)
Low anterior hairline  (IAGP)
Low posterior hairline  (IAGP)
Low-set ears  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Macrotia  (IAGP)
Malrotation of colon  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Micrognathia  (IAGP)
Micromelia  (IAGP)
Microretrognathia  (IAGP)
Multicystic kidney dysplasia  (IAGP)
Myopia  (IAGP)
Nephronophthisis  (IAGP)
Neurological speech impairment  (IAGP)
Nystagmus  (IAGP)
Obsessive-compulsive behavior  (IAGP)
Oligodactyly  (IAGP)
Optic atrophy  (IAGP)
Optic nerve coloboma  (IAGP)
Otitis media  (IAGP)
Pectus excavatum  (IAGP)
Penile hypospadias  (IAGP)
Peripheral neuropathy  (IAGP)
Phocomelia  (IAGP)
Phthisis bulbi  (IAGP)
Plagiocephaly  (IAGP)
Pneumonia  (IAGP)
Premature birth  (IAGP)
Prenatal movement abnormality  (IAGP)
Primary amenorrhea  (IAGP)
Proptosis  (IAGP)
Proteinuria  (IAGP)
Proximal placement of thumb  (IAGP)
Ptosis  (IAGP)
Pulmonary hypoplasia  (IAGP)
Pyloric stenosis  (IAGP)
Radioulnar synostosis  (IAGP)
Reduced renal corticomedullary differentiation  (IAGP)
Renal cyst  (IAGP)
Renal hypoplasia  (IAGP)
Renal insufficiency  (IAGP)
Right ventricular hypertrophy  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe postnatal growth retardation  (IAGP)
Short 1st metacarpal  (IAGP)
Short foot  (IAGP)
Short neck  (IAGP)
Short nose  (IAGP)
Short stature  (IAGP)
Short sternum  (IAGP)
Single transverse palmar crease  (IAGP)
Single umbilical artery  (IAGP)
Sleep disturbance  (IAGP)
Small hand  (IAGP)
Sporadic  (IAGP)
Strabismus  (IAGP)
Supernumerary ribs  (IAGP)
Synophrys  (IAGP)
Talipes  (IAGP)
Tetralogy of Fallot  (IAGP)
Thick eyebrow  (IAGP)
Thin upper lip vermilion  (IAGP)
Thin vermilion border  (IAGP)
Thrombocytopenia  (IAGP)
Toe syndactyly  (IAGP)
Truncal obesity  (IAGP)
Ventricular septal defect  (IAGP)
Ventriculomegaly  (IAGP)
Vesicoureteral reflux  (IAGP)
Volvulus  (IAGP)
Weak cry  (IAGP)
Widely spaced teeth  (IAGP)
References

Additional References at PubMed
PMID:8291537   PMID:12477932   PMID:14702039   PMID:15146185   PMID:15146186   PMID:15146197   PMID:15302935   PMID:15318302   PMID:15489334   PMID:15591270   PMID:15635413   PMID:15882967  
PMID:16100726   PMID:16169070   PMID:16236812   PMID:16565220   PMID:16682347   PMID:16802858   PMID:16964243   PMID:17081983   PMID:17106445   PMID:17264868   PMID:17468178   PMID:17577209  
PMID:17661813   PMID:18299561   PMID:18854353   PMID:19052029   PMID:19056867   PMID:19242925   PMID:19468298   PMID:20124326   PMID:20301283   PMID:20301533   PMID:20358602   PMID:20360068  
PMID:20431927   PMID:20467437   PMID:20562864   PMID:20634891   PMID:20720539   PMID:20727427   PMID:20824775   PMID:20850016   PMID:21784059   PMID:21873635   PMID:21934712   PMID:22094256  
PMID:22174317   PMID:22241092   PMID:22353942   PMID:22586326   PMID:22628566   PMID:22857006   PMID:22939629   PMID:22965847   PMID:23085304   PMID:23251661   PMID:23254390   PMID:23505322  
PMID:23760082   PMID:23912250   PMID:24136230   PMID:24145515   PMID:24189319   PMID:24218399   PMID:24332808   PMID:24457600   PMID:24550742   PMID:24711643   PMID:24918291   PMID:24999758  
PMID:25184681   PMID:25196272   PMID:25447906   PMID:25963978   PMID:26176819   PMID:26299517   PMID:26344197   PMID:26437745   PMID:26496610   PMID:26674342   PMID:26701315   PMID:26725122  
PMID:26925417   PMID:26949251   PMID:27797076   PMID:28167679   PMID:28241484   PMID:28242625   PMID:28425213   PMID:28472652   PMID:28514442   PMID:28515276   PMID:28548707   PMID:28794006  
PMID:28914604   PMID:28987049   PMID:29117863   PMID:29155047   PMID:29261648   PMID:29348408   PMID:29379197   PMID:29395067   PMID:29452578   PMID:29467282   PMID:29478914   PMID:29507755  
PMID:29509190   PMID:29531005   PMID:29611806   PMID:29955894   PMID:30096364   PMID:30098241   PMID:30224337   PMID:30404004   PMID:30463901   PMID:30606125   PMID:30770747   PMID:30804502  
PMID:30948266   PMID:31010829   PMID:31091453   PMID:31180492   PMID:31182584   PMID:31204999   PMID:31320616   PMID:31515253   PMID:31527615   PMID:31586073   PMID:31872982   PMID:32074972  
PMID:32125084   PMID:32176628   PMID:32323916   PMID:32335880   PMID:32416067   PMID:32433956   PMID:32694731   PMID:32786267   PMID:34006846   PMID:34035299   PMID:34079125  


Genomics

Comparative Map Data
NIPBL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl536,876,769 - 37,066,413 (+)EnsemblGRCh38hg38GRCh38
GRCh38536,876,769 - 37,066,413 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37536,876,871 - 37,066,515 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36536,912,742 - 37,101,678 (+)NCBINCBI36hg18NCBI36
Celera536,763,790 - 36,952,889 (+)NCBI
Cytogenetic Map5p13.2NCBI
HuRef536,829,492 - 37,018,602 (+)NCBIHuRef
CHM1_1536,879,597 - 37,068,738 (+)NCBICHM1_1
Nipbl
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39158,319,308 - 8,494,799 (-)NCBIGRCm39mm39
GRCm39 Ensembl158,320,101 - 8,473,947 (-)Ensembl
GRCm38158,289,824 - 8,465,315 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl158,290,617 - 8,444,463 (-)EnsemblGRCm38mm10GRCm38
MGSCv37158,241,225 - 8,394,463 (-)NCBIGRCm37mm9NCBIm37
MGSCv36158,238,440 - 8,391,678 (-)NCBImm8
Celera158,136,258 - 8,289,610 (-)NCBICelera
Cytogenetic Map15A1NCBI
Nipbl
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2257,399,443 - 57,586,770 (-)NCBImRatBN7.2
Rnor_6.0 Ensembl257,509,428 - 57,600,820 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0257,508,830 - 57,676,197 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0278,992,721 - 79,160,884 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4257,908,828 - 58,099,422 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1257,837,538 - 58,006,254 (-)NCBI
Celera253,014,297 - 53,179,686 (-)NCBICelera
Cytogenetic Map2q16NCBI
Nipbl
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542621,666,857 - 21,841,515 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542621,666,958 - 21,841,515 (+)NCBIChiLan1.0ChiLan1.0
NIPBL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1578,585,649 - 78,772,665 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl578,585,649 - 78,698,184 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0573,306,527 - 73,491,367 (-)NCBIMhudiblu_PPA_v0panPan3
NIPBL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1471,583,118 - 71,780,986 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl471,583,732 - 71,780,852 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha471,193,245 - 71,390,556 (-)NCBI
ROS_Cfam_1.0472,093,046 - 72,290,807 (-)NCBI
UMICH_Zoey_3.1471,840,270 - 72,037,537 (-)NCBI
UNSW_CanFamBas_1.0471,962,190 - 72,159,916 (-)NCBI
UU_Cfam_GSD_1.0472,493,866 - 72,691,524 (-)NCBI
Nipbl
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213226,330,734 - 226,501,147 (+)NCBI
SpeTri2.0NW_0049365184,870,686 - 5,041,099 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NIPBL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1622,152,501 - 22,363,847 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11622,152,455 - 22,364,373 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21623,393,877 - 23,512,467 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NIPBL
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1435,748,112 - 35,940,075 (+)NCBI
ChlSab1.1 Ensembl435,829,386 - 35,941,271 (+)Ensembl
Vero_WHO_p1.0NW_02366607126,085,896 - 26,277,759 (+)NCBI
Nipbl
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475917,899,152 - 18,078,213 (-)NCBI

Position Markers
RH65882  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37536,993,508 - 36,993,634UniSTSGRCh37
Build 36537,029,265 - 37,029,391RGDNCBI36
Celera536,880,476 - 36,880,602RGD
Cytogenetic Map5p13.2UniSTS
HuRef536,946,182 - 36,946,308UniSTS
GeneMap99-GB4 RH Map5128.67UniSTS
NCBI RH Map5175.4UniSTS
RH47582  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37537,065,546 - 37,065,717UniSTSGRCh37
Build 36537,101,303 - 37,101,474RGDNCBI36
Celera536,952,514 - 36,952,685RGD
Cytogenetic Map5p13.2UniSTS
HuRef537,018,227 - 37,018,398UniSTS
GeneMap99-GB4 RH Map5128.67UniSTS
NCBI RH Map5175.4UniSTS
RH76750  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37537,065,320 - 37,065,420UniSTSGRCh37
Build 36537,101,077 - 37,101,177RGDNCBI36
Celera536,952,288 - 36,952,388RGD
Cytogenetic Map5p13.2UniSTS
HuRef537,018,001 - 37,018,101UniSTS
RH119355  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37536,986,598 - 36,986,871UniSTSGRCh37
Build 36537,022,355 - 37,022,628RGDNCBI36
Celera536,873,557 - 36,873,830RGD
Cytogenetic Map5p13.2UniSTS
HuRef536,939,264 - 36,939,537UniSTS
TNG Radiation Hybrid Map516375.0UniSTS
D5S1878  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37537,063,771 - 37,063,870UniSTSGRCh37
GRCh37537,063,716 - 37,063,849UniSTSGRCh37
Build 36537,099,528 - 37,099,627RGDNCBI36
Celera536,950,739 - 36,950,838RGD
Celera536,950,684 - 36,950,817UniSTS
Cytogenetic Map5p13.2UniSTS
HuRef537,016,452 - 37,016,551UniSTS
HuRef537,016,397 - 37,016,530UniSTS
Whitehead-YAC Contig Map5 UniSTS
NIPBL_7249  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37537,065,178 - 37,066,060UniSTSGRCh37
Build 36537,100,935 - 37,101,817RGDNCBI36
Celera536,952,146 - 36,953,028RGD
HuRef537,017,859 - 37,018,741UniSTS
WI-18161  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37536,897,863 - 36,897,990UniSTSGRCh37
Build 36536,933,620 - 36,933,747RGDNCBI36
Celera536,784,797 - 36,784,924RGD
Cytogenetic Map5p13.2UniSTS
HuRef536,850,501 - 36,850,628UniSTS
GeneMap99-GB4 RH Map5124.47UniSTS
Whitehead-RH Map5132.3UniSTS
SGC44479  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37536,963,042 - 36,963,335UniSTSGRCh37
Build 36536,998,799 - 36,999,092RGDNCBI36
Celera536,849,996 - 36,850,289RGD
Cytogenetic Map5p13.2UniSTS
HuRef536,915,702 - 36,915,995UniSTS
Whitehead-RH Map5143.7UniSTS
MARC_21845-21846:1025102921:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37536,961,621 - 36,962,284UniSTSGRCh37
Build 36536,997,378 - 36,998,041RGDNCBI36
Celera536,848,575 - 36,849,238RGD
HuRef536,914,281 - 36,914,944UniSTS
L17705  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map18q21.31UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map11q12UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21.3UniSTS
D5S1878  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5p13.2UniSTS
Whitehead-YAC Contig Map5 UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1068
Count of miRNA genes:633
Interacting mature miRNAs:745
Transcripts:ENST00000282516, ENST00000448238, ENST00000503274, ENST00000504430, ENST00000505998, ENST00000509429, ENST00000513819, ENST00000514335
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


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 1991 1583 1187 258 1369 124 3727 1116 1519 255 1406 1582 146 1114 2192 4
Low 446 1406 539 366 581 341 628 1080 2210 164 54 31 29 1 90 596 1 2
Below cutoff 1 1 1 1 5

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_006987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_133433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005248280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005248282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006714467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006714468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA508213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC026741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ627032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ640137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK002065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY726600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC131490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC146821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BK005151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ723324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX538177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX538178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN369580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC876970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC876971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ807789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ807790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ807791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ807792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000282516   ⟹   ENSP00000282516
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl536,876,769 - 37,066,413 (+)Ensembl
RefSeq Acc Id: ENST00000448238   ⟹   ENSP00000406266
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl536,876,790 - 37,064,190 (+)Ensembl
RefSeq Acc Id: ENST00000503274
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl536,995,150 - 37,000,506 (+)Ensembl
RefSeq Acc Id: ENST00000504430
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl536,961,506 - 36,997,002 (+)Ensembl
RefSeq Acc Id: ENST00000505998
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl536,954,968 - 36,975,897 (+)Ensembl
RefSeq Acc Id: ENST00000509429
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl536,995,750 - 36,997,002 (+)Ensembl
RefSeq Acc Id: ENST00000513819   ⟹   ENSP00000421504
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl537,058,903 - 37,063,978 (+)Ensembl
RefSeq Acc Id: ENST00000514335
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl537,050,943 - 37,065,502 (+)Ensembl
RefSeq Acc Id: ENST00000652901   ⟹   ENSP00000499536
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl536,876,841 - 37,065,394 (+)Ensembl
RefSeq Acc Id: NM_015384   ⟹   NP_056199
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38536,876,769 - 37,065,819 (+)NCBI
GRCh37536,876,861 - 37,065,926 (+)NCBI
Build 36536,912,742 - 37,100,057 (+)NCBI Archive
HuRef536,829,492 - 37,018,602 (+)ENTREZGENE
CHM1_1536,879,597 - 37,068,738 (+)NCBI
Sequence:
RefSeq Acc Id: NM_133433   ⟹   NP_597677
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38536,876,769 - 37,066,413 (+)NCBI
GRCh37536,876,861 - 37,065,926 (+)NCBI
Build 36536,912,742 - 37,101,678 (+)NCBI Archive
HuRef536,829,492 - 37,018,602 (+)ENTREZGENE
CHM1_1536,879,597 - 37,068,738 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005248280   ⟹   XP_005248337
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38536,876,770 - 37,065,504 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005248282   ⟹   XP_005248339
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38536,971,092 - 37,065,504 (+)NCBI
GRCh37536,876,861 - 37,065,926 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006714467   ⟹   XP_006714530
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38536,876,770 - 37,065,819 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006714468   ⟹   XP_006714531
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38536,876,770 - 37,065,504 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011514015   ⟹   XP_011512317
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38536,876,770 - 37,060,926 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017009329   ⟹   XP_016864818
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38536,876,770 - 37,065,233 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017009330   ⟹   XP_016864819
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38536,980,615 - 37,065,504 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017009331   ⟹   XP_016864820
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38536,876,770 - 37,065,504 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_056199   ⟸   NM_015384
- Peptide Label: isoform B
- UniProtKB: Q6KC79 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_597677   ⟸   NM_133433
- Peptide Label: isoform A
- UniProtKB: Q6KC79 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005248337   ⟸   XM_005248280
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_005248339   ⟸   XM_005248282
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_006714530   ⟸   XM_006714467
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_006714531   ⟸   XM_006714468
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011512317   ⟸   XM_011514015
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016864820   ⟸   XM_017009331
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016864818   ⟸   XM_017009329
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016864819   ⟸   XM_017009330
- Peptide Label: isoform X7
- UniProtKB: Q6KC79 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000282516   ⟸   ENST00000282516
RefSeq Acc Id: ENSP00000499536   ⟸   ENST00000652901
RefSeq Acc Id: ENSP00000406266   ⟸   ENST00000448238
RefSeq Acc Id: ENSP00000421504   ⟸   ENST00000513819
Protein Domains
Nipped-B_C

Promoters
RGD ID:6869408
Promoter ID:EPDNEW_H7869
Type:initiation region
Name:NIPBL_2
Description:NIPBL, cohesin loading factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7870  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38536,876,654 - 36,876,714EPDNEW
RGD ID:6869410
Promoter ID:EPDNEW_H7870
Type:initiation region
Name:NIPBL_1
Description:NIPBL, cohesin loading factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7869  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38536,876,769 - 36,876,829EPDNEW
RGD ID:6803397
Promoter ID:HG_KWN:49977
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_015384,   OTTHUMT00000207582
Position:
Human AssemblyChrPosition (strand)Source
Build 36536,911,841 - 36,913,092 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_133433.4(NIPBL):c.2595dup (p.Leu866fs) duplication Cornelia de Lange syndrome 1 [RCV000553774] Chr5:36985772..36985773 [GRCh38]
Chr5:36985874..36985875 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.4203A>G (p.Leu1401=) single nucleotide variant Cornelia de Lange syndrome 1 [RCV001457247]|not provided [RCV000543739] Chr5:37007438 [GRCh38]
Chr5:37007540 [GRCh37]
Chr5:5p13.2
likely benign
NM_133433.4(NIPBL):c.3583G>A (p.Asp1195Asn) single nucleotide variant not specified [RCV000516385] Chr5:37000997 [GRCh38]
Chr5:37001099 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_133433.4(NIPBL):c.2T>A (p.Met1Lys) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000002221] Chr5:36953698 [GRCh38]
Chr5:36953800 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.7289A>G (p.Tyr2430Cys) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000002222] Chr5:37057211 [GRCh38]
Chr5:37057313 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.150del (p.Asn51fs) deletion Cornelia de Lange syndrome 1 [RCV000002223] Chr5:36955557 [GRCh38]
Chr5:36955659 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.7306dup (p.Ala2436fs) duplication Cornelia de Lange syndrome 1 [RCV000002224] Chr5:37057227..37057228 [GRCh38]
Chr5:37057329..37057330 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.1547dup (p.Ala517fs) duplication Cornelia de Lange syndrome 1 [RCV000002225] Chr5:36984722..36984723 [GRCh38]
Chr5:36984824..36984825 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.3616_3618del (p.Ile1206del) deletion Cornelia de Lange syndrome 1 [RCV000002226] Chr5:37001029..37001031 [GRCh38]
Chr5:37001131..37001133 [GRCh37]
Chr5:5p13.2
pathogenic
NIPBL, 2-BP DEL, 2479AG deletion Cornelia de Lange syndrome 1 [RCV000002227] Chr5:5p13.1 pathogenic
NM_133433.4(NIPBL):c.5167C>T (p.Arg1723Ter) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000002228] Chr5:37020615 [GRCh38]
Chr5:37020717 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.3737C>G (p.Ala1246Gly) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000002229] Chr5:37002734 [GRCh38]
Chr5:37002836 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.7861-1G>C single nucleotide variant Cornelia de Lange syndrome 1 [RCV000002230] Chr5:37063789 [GRCh38]
Chr5:37063891 [GRCh37]
Chr5:5p13.2
pathogenic
NIPBL, IVS44DS, A-G, +4 single nucleotide variant Cornelia de Lange syndrome 1 [RCV000002231] Chr5:5p13.1 pathogenic
NM_133433.4(NIPBL):c.4606C>T (p.Arg1536Ter) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000002232] Chr5:37014728 [GRCh38]
Chr5:37014830 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.-321_-320delinsA indel Cornelia de Lange syndrome 1 [RCV000002233] Chr5:36876937..36876938 [GRCh38]
Chr5:36877039..36877040 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.3(NIPBL):c.3856-?_4239+?del deletion Cornelia de Lange syndrome 1 [RCV000656700]   uncertain significance
NM_133433.4(NIPBL):c.5829dup (p.Gly1944fs) duplication not provided [RCV000627564] Chr5:37027378..37027379 [GRCh38]
Chr5:37027480..37027481 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.6988C>G (p.Pro2330Ala) single nucleotide variant not specified [RCV001290592] Chr5:37051812 [GRCh38]
Chr5:37051914 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_133433.4(NIPBL):c.7379C>G (p.Ser2460Cys) single nucleotide variant not provided [RCV000722364] Chr5:37057301 [GRCh38]
Chr5:37057403 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_133433.4(NIPBL):c.5863-10G>A single nucleotide variant not provided [RCV000727926] Chr5:37036369 [GRCh38]
Chr5:37036471 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_133433.4(NIPBL):c.3148G>T (p.Glu1050Ter) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000542226] Chr5:36995648 [GRCh38]
Chr5:36995750 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.6590-9C>T single nucleotide variant Cornelia de Lange syndrome 1 [RCV001425225]|not provided [RCV000728675] Chr5:37048493 [GRCh38]
Chr5:37048595 [GRCh37]
Chr5:5p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_133433.4(NIPBL):c.7832A>G (p.Lys2611Arg) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000551293] Chr5:37060990 [GRCh38]
Chr5:37061092 [GRCh37]
Chr5:5p13.2
likely pathogenic|uncertain significance
NM_133433.4(NIPBL):c.2584A>G (p.Lys862Glu) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000678375]|not provided [RCV000520338] Chr5:36985764 [GRCh38]
Chr5:36985866 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_133433.4(NIPBL):c.1352C>T (p.Ser451Phe) single nucleotide variant not specified [RCV000518768] Chr5:36976259 [GRCh38]
Chr5:36976361 [GRCh37]
Chr5:5p13.2
uncertain significance
NC_000005.10:g.(?_37045443)_(37048675_?)del deletion Cornelia de Lange syndrome 1 [RCV000550726] Chr5:37045443..37048675 [GRCh38]
Chr5:5p13.2
likely pathogenic
NM_133433.4(NIPBL):c.6712del (p.Gln2238fs) deletion not provided [RCV000519550] Chr5:37048623 [GRCh38]
Chr5:37048725 [GRCh37]
Chr5:5p13.2
pathogenic
GRCh38/hg38 5p14.1-q11.1(chr5:26593632-50288555)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|See cases [RCV000051834] Chr5:26593632..50288555 [GRCh38]
Chr5:26593741..49584389 [GRCh37]
Chr5:26629498..49620146 [NCBI36]
Chr5:5p14.1-q11.1
pathogenic
GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3 copy number gain See cases [RCV000051835] Chr5:35700480..45260029 [GRCh38]
Chr5:35700582..45260131 [GRCh37]
Chr5:35736339..45295888 [NCBI36]
Chr5:5p13.2-12
pathogenic
GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3 copy number gain See cases [RCV000051836] Chr5:36374107..51103841 [GRCh38]
Chr5:36374209..50399675 [GRCh37]
Chr5:36409966..50435432 [NCBI36]
Chr5:5p13.2-q11.1
pathogenic
GRCh38/hg38 5p13.2-13.1(chr5:37016043-39383281)x3 copy number gain See cases [RCV000051837] Chr5:37016043..39383281 [GRCh38]
Chr5:37016145..39383383 [GRCh37]
Chr5:37051902..39419140 [NCBI36]
Chr5:5p13.2-13.1
pathogenic
GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 copy number gain See cases [RCV000051810] Chr5:54839..45649861 [GRCh38]
Chr5:54954..45649963 [GRCh37]
Chr5:107954..45685720 [NCBI36]
Chr5:5p15.33-12
pathogenic
GRCh38/hg38 5p13.2(chr5:36886533-37331810)x3 copy number gain See cases [RCV000051704] Chr5:36886533..37331810 [GRCh38]
Chr5:36886635..37331912 [GRCh37]
Chr5:36922392..37367669 [NCBI36]
Chr5:5p13.2
uncertain significance
GRCh38/hg38 5p13.2(chr5:36906275-37606265)x3 copy number gain See cases [RCV000051705] Chr5:36906275..37606265 [GRCh38]
Chr5:36906377..37606367 [GRCh37]
Chr5:36942134..37642124 [NCBI36]
Chr5:5p13.2
uncertain significance
GRCh38/hg38 5p13.2(chr5:36834830-36906334)x1 copy number loss See cases [RCV000053450] Chr5:36834830..36906334 [GRCh38]
Chr5:36834932..36906436 [GRCh37]
Chr5:36870689..36942193 [NCBI36]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.7806dup (p.Asn2603Ter) duplication Cornelia de Lange syndrome 1 [RCV000086393] Chr5:37060963..37060964 [GRCh38]
Chr5:37061065..37061066 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.1212C>T (p.Pro404=) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000086365]|not provided [RCV000959648]|not specified [RCV000610474] Chr5:36976119 [GRCh38]
Chr5:36976221 [GRCh37]
Chr5:5p13.2
benign|likely benign|uncertain significance
NM_133433.4(NIPBL):c.133C>T (p.Arg45Ter) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000086366]|not provided [RCV000724758] Chr5:36955540 [GRCh38]
Chr5:36955642 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.1445_1448del (p.Arg482fs) microsatellite Cornelia de Lange syndrome 1 [RCV000086367] Chr5:36976347..36976350 [GRCh38]
Chr5:36976449..36976452 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.1526C>G (p.Ser509Cys) single nucleotide variant not specified [RCV000146523] Chr5:36984706 [GRCh38]
Chr5:36984808 [GRCh37]
Chr5:5p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_133433.4(NIPBL):c.192del (p.Gln64fs) deletion Cornelia de Lange syndrome 1 [RCV000086369] Chr5:36955599 [GRCh38]
Chr5:36955701 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000872824]|History of neurodevelopmental disorder [RCV000716856]|not specified [RCV000146528] Chr5:36985145 [GRCh38]
Chr5:36985247 [GRCh37]
Chr5:5p13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_133433.4(NIPBL):c.2592T>A (p.Asp864Glu) single nucleotide variant Cornelia de Lange syndrome 1 [RCV001157505]|not specified [RCV000146552] Chr5:36985772 [GRCh38]
Chr5:36985874 [GRCh37]
Chr5:5p13.2
pathogenic|likely benign|uncertain significance
NM_133433.4(NIPBL):c.3445C>T (p.Arg1149Ter) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000086375]|not provided [RCV001090998] Chr5:37000513 [GRCh38]
Chr5:37000615 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000086376]|History of neurodevelopmental disorder [RCV000718955]|not provided [RCV000712415]|not specified [RCV000250063] Chr5:37006398 [GRCh38]
Chr5:37006500 [GRCh37]
Chr5:5p13.2
benign|likely benign|uncertain significance
NM_133433.4(NIPBL):c.4285_4294del (p.Glu1429fs) deletion Cornelia de Lange syndrome 1 [RCV000086377] Chr5:37008049..37008058 [GRCh38]
Chr5:37008151..37008160 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.4422G>T (p.Arg1474Ser) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000086378] Chr5:37010087 [GRCh38]
Chr5:37010189 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_133433.4(NIPBL):c.4511T>A (p.Leu1504Ter) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000086379] Chr5:37010176 [GRCh38]
Chr5:37010278 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.4806_4807del (p.Glu1602fs) microsatellite Cornelia de Lange syndrome 1 [RCV000086380] Chr5:37017045..37017046 [GRCh38]
Chr5:37017147..37017148 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000086381] Chr5:37022088 [GRCh38]
Chr5:37022190 [GRCh37]
Chr5:5p13.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_133433.4(NIPBL):c.5456G>A (p.Arg1819Gln) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000086383] Chr5:37022272 [GRCh38]
Chr5:37022374 [GRCh37]
Chr5:5p13.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_133433.4(NIPBL):c.5566A>G (p.Arg1856Gly) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000086384] Chr5:37022382 [GRCh38]
Chr5:37022484 [GRCh37]
Chr5:5p13.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_133433.4(NIPBL):c.585C>G (p.Tyr195Ter) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000086385] Chr5:36962249 [GRCh38]
Chr5:36962351 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.6631G>T (p.Glu2211Ter) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000086386] Chr5:37048543 [GRCh38]
Chr5:37048645 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.6641_6647del (p.Asn2214fs) deletion Cornelia de Lange syndrome 1 [RCV000086387] Chr5:37048552..37048558 [GRCh38]
Chr5:37048654..37048660 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.6892C>G (p.Arg2298Gly) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000086388] Chr5:37049239 [GRCh38]
Chr5:37049341 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.7301A>G (p.Asn2434Ser) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000086389]|not provided [RCV000412771] Chr5:37057223 [GRCh38]
Chr5:37057325 [GRCh37]
Chr5:5p13.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_133433.4(NIPBL):c.7327C>T (p.Gln2443Ter) single nucleotide variant Abnormality of brain morphology [RCV001526581]|Cornelia de Lange syndrome 1 [RCV000086390] Chr5:37057249 [GRCh38]
Chr5:37057351 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.7727A>G (p.Tyr2576Cys) single nucleotide variant not specified [RCV000146732] Chr5:37060885 [GRCh38]
Chr5:37060987 [GRCh37]
Chr5:5p13.2
likely benign|uncertain significance
NM_133433.4(NIPBL):c.7789del (p.Leu2597fs) deletion Cornelia de Lange syndrome 1 [RCV000086392]|not provided [RCV000256022] Chr5:37060946 [GRCh38]
Chr5:37061048 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.1495+8_1495+10del microsatellite Cornelia de Lange syndrome 1 [RCV000871366]|De Lange syndrome [RCV000314623]|not specified [RCV000082479] Chr5:36976407..36976409 [GRCh38]
Chr5:36976509..36976511 [GRCh37]
Chr5:5p13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg) single nucleotide variant Cornelia de Lange syndrome 1 [RCV001079668]|History of neurodevelopmental disorder [RCV000716733]|not provided [RCV000513958]|not specified [RCV000146529] Chr5:36985165 [GRCh38]
Chr5:36985267 [GRCh37]
Chr5:5p13.2
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_133433.4(NIPBL):c.198C>G (p.Val66=) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000528247]|not specified [RCV000082481] Chr5:36955605 [GRCh38]
Chr5:36955707 [GRCh37]
Chr5:5p13.2
benign|likely benign|uncertain significance
NM_133433.4(NIPBL):c.2021A>G (p.Asn674Ser) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000086371]|History of neurodevelopmental disorder [RCV000715248]|not provided [RCV000712413]|not specified [RCV000082482] Chr5:36985201 [GRCh38]
Chr5:36985303 [GRCh37]
Chr5:5p13.2
benign
NM_133433.4(NIPBL):c.2447G>A (p.Arg816His) single nucleotide variant Cornelia de Lange syndrome 1 [RCV001155803]|not provided [RCV000723636]|not specified [RCV000146544] Chr5:36985627 [GRCh38]
Chr5:36985729 [GRCh37]
Chr5:5p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_133433.4(NIPBL):c.2469A>G (p.Lys823=) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000541253]|History of neurodevelopmental disorder [RCV000716158]|not specified [RCV000082484] Chr5:36985649 [GRCh38]
Chr5:36985751 [GRCh37]
Chr5:5p13.2
benign|likely benign
NM_133433.4(NIPBL):c.2479_2480del (p.Arg827fs) deletion Cornelia de Lange syndrome 1 [RCV000146547]|not provided [RCV000082485] Chr5:36985659..36985660 [GRCh38]
Chr5:36985761..36985762 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.2602C>T (p.Arg868Ter) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146553]|not provided [RCV000790717] Chr5:36985782 [GRCh38]
Chr5:36985884 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.2626dup (p.Asp876fs) duplication not provided [RCV000173920] Chr5:36985802..36985803 [GRCh38]
Chr5:36985904..36985905 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.3015A>G (p.Leu1005=) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000086374]|History of neurodevelopmental disorder [RCV000716167]|not specified [RCV000082488] Chr5:36986195 [GRCh38]
Chr5:36986297 [GRCh37]
Chr5:5p13.2
benign|likely benign
NM_133433.4(NIPBL):c.3575-17A>G single nucleotide variant not specified [RCV000082489] Chr5:37000972 [GRCh38]
Chr5:37001074 [GRCh37]
Chr5:5p13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_133433.4(NIPBL):c.4421+7A>G single nucleotide variant Cornelia de Lange syndrome 1 [RCV000870939]|not specified [RCV000082490] Chr5:37008730 [GRCh38]
Chr5:37008832 [GRCh37]
Chr5:5p13.2
benign|likely benign
NM_133433.4(NIPBL):c.4561-9T>A single nucleotide variant Cornelia de Lange syndrome 1 [RCV000870940]|not specified [RCV000082491] Chr5:37014674 [GRCh38]
Chr5:37014776 [GRCh37]
Chr5:5p13.2
benign|likely benign
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr) single nucleotide variant Cornelia de Lange syndrome 1 [RCV001088813]|not provided [RCV000419655]|not specified [RCV000146640] Chr5:36962199 [GRCh38]
Chr5:36962301 [GRCh37]
Chr5:5p13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_133433.4(NIPBL):c.5440C>T (p.Arg1814Ter) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000086382]|not provided [RCV000790730] Chr5:37022256 [GRCh38]
Chr5:37022358 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.5786A>G (p.Lys1929Arg) single nucleotide variant not provided [RCV000082494] Chr5:37026305 [GRCh38]
Chr5:37026407 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_133433.4(NIPBL):c.5863-31TA[9] microsatellite not specified [RCV000082495] Chr5:37036348..37036349 [GRCh38]
Chr5:37036450..37036451 [GRCh37]
Chr5:5p13.2
benign
NM_133433.4(NIPBL):c.5863-31TA[11] microsatellite not provided [RCV000082496]|not specified [RCV000604035] Chr5:37036347..37036348 [GRCh38]
Chr5:37036449..37036450 [GRCh37]
Chr5:5p13.2
likely benign|uncertain significance
NM_133433.4(NIPBL):c.5874C>T (p.Ser1958=) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000330558]|History of neurodevelopmental disorder [RCV000715435]|not specified [RCV000082497] Chr5:37036390 [GRCh38]
Chr5:37036492 [GRCh37]
Chr5:5p13.2
benign
NM_133433.4(NIPBL):c.6109-3T>C single nucleotide variant Cornelia de Lange syndrome 1 [RCV000614790]|History of neurodevelopmental disorder [RCV000716311]|not provided [RCV000431680]|not specified [RCV000082498] Chr5:37044344 [GRCh38]
Chr5:37044446 [GRCh37]
Chr5:5p13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_133433.4(NIPBL):c.6557A>G (p.Glu2186Gly) single nucleotide variant not provided [RCV000082499] Chr5:37046167 [GRCh38]
Chr5:37046269 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_133433.4(NIPBL):c.7047T>G (p.Tyr2349Ter) single nucleotide variant not provided [RCV000082500] Chr5:37051871 [GRCh38]
Chr5:37051973 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.7219C>T (p.Arg2407Ter) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146719]|not provided [RCV000790738] Chr5:37052522 [GRCh38]
Chr5:37052624 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.7602C>T (p.Ile2534=) single nucleotide variant not provided [RCV000082502] Chr5:37059082 [GRCh38]
Chr5:37059184 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_133433.4(NIPBL):c.772-8A>G single nucleotide variant not provided [RCV000082503] Chr5:36971937 [GRCh38]
Chr5:36972039 [GRCh37]
Chr5:5p13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_133433.4(NIPBL):c.8377C>T (p.Arg2793Ter) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146743]|not provided [RCV000790740] Chr5:37064854 [GRCh38]
Chr5:37064956 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.5378T>G (p.Met1793Arg) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000119818] Chr5:37022100 [GRCh38]
Chr5:37022202 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_133433.4(NIPBL):c.617T>A (p.Val206Glu) single nucleotide variant Cornelia de Lange syndrome 1 [RCV001349299] Chr5:36970882 [GRCh38]
Chr5:36970984 [GRCh37]
Chr5:5p13.2
uncertain significance
Single allele duplication Cornelia de Lange syndrome 1 [RCV000173920] Chr5:36985908..36985909 [GRCh37] pathogenic
NM_133433.4(NIPBL):c.6763+1G>A single nucleotide variant Cornelia de Lange syndrome 1 [RCV001224317] Chr5:37048676 [GRCh38]
Chr5:37048778 [GRCh37]
Chr5:5p13.2
pathogenic
NC_000005.10:g.(?_36953616)_(37017182_?)del deletion Cornelia de Lange syndrome 1 [RCV001032871] Chr5:36953718..37017284 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.5808+2T>G single nucleotide variant not provided [RCV000177577] Chr5:37026329 [GRCh38]
Chr5:37026431 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.6955-9del deletion not specified [RCV000178474] Chr5:37051760 [GRCh38]
Chr5:37051862 [GRCh37]
Chr5:5p13.2
benign
NM_133433.4(NIPBL):c.7463A>G (p.Asn2488Ser) single nucleotide variant not specified [RCV000178558] Chr5:37058943 [GRCh38]
Chr5:37059045 [GRCh37]
Chr5:5p13.2
likely benign
NM_133433.4(NIPBL):c.6108+1G>C single nucleotide variant not provided [RCV000177818] Chr5:37038739 [GRCh38]
Chr5:37038841 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.1152T>A (p.Asn384Lys) single nucleotide variant Cornelia de Lange syndrome 1 [RCV001331664] Chr5:36976059 [GRCh38]
Chr5:36976161 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_133433.4(NIPBL):c.7523A>G (p.Asp2508Gly) single nucleotide variant Cornelia de Lange syndrome 1 [RCV001332858] Chr5:37059003 [GRCh38]
Chr5:37059105 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_133433.4(NIPBL):c.1582A>T (p.Thr528Ser) single nucleotide variant not provided [RCV000173916] Chr5:36984762 [GRCh38]
Chr5:36984864 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_133433.4(NIPBL):c.1833T>A (p.Ser611Arg) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000260735]|not provided [RCV000173918] Chr5:36985013 [GRCh38]
Chr5:36985115 [GRCh37]
Chr5:5p13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_133433.4(NIPBL):c.2743A>G (p.Ser915Gly) single nucleotide variant not provided [RCV000173919] Chr5:36985923 [GRCh38]
Chr5:36986025 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_133433.4(NIPBL):c.3481C>T (p.Pro1161Ser) single nucleotide variant not provided [RCV000174414] Chr5:37000549 [GRCh38]
Chr5:37000651 [GRCh37]
Chr5:5p13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_133433.4(NIPBL):c.*84del deletion not specified [RCV000146508] Chr5:37064968 [GRCh38]
Chr5:37065070 [GRCh37]
Chr5:5p13.2
benign
NM_133433.4(NIPBL):c.1003del (p.Glu335fs) deletion Cornelia de Lange syndrome 1 [RCV000146509] Chr5:36975910 [GRCh38]
Chr5:36976012 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.1033_1036del (p.Tyr345fs) deletion Cornelia de Lange syndrome 1 [RCV000146510] Chr5:36975937..36975940 [GRCh38]
Chr5:36976039..36976042 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.1056C>T (p.Ser352=) single nucleotide variant Cornelia de Lange syndrome 1 [RCV001151937]|History of neurodevelopmental disorder [RCV000718200]|not provided [RCV000954535]|not specified [RCV000146511] Chr5:36975963 [GRCh38]
Chr5:36976065 [GRCh37]
Chr5:5p13.2
benign|likely benign
NM_133433.4(NIPBL):c.1057A>T (p.Lys353Ter) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146512] Chr5:36975964 [GRCh38]
Chr5:36976066 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.1086_1087del (p.Arg364fs) deletion Cornelia de Lange syndrome 1 [RCV000146513] Chr5:36975992..36975993 [GRCh38]
Chr5:36976094..36976095 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.1150A>G (p.Asn384Asp) single nucleotide variant not specified [RCV000146514] Chr5:36976057 [GRCh38]
Chr5:36976159 [GRCh37]
Chr5:5p13.2
benign
NM_133433.4(NIPBL):c.1151A>G (p.Asn384Ser) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000954334]|not specified [RCV000146515] Chr5:36976058 [GRCh38]
Chr5:36976160 [GRCh37]
Chr5:5p13.2
benign|likely benign|uncertain significance
NM_133433.4(NIPBL):c.1183C>T (p.Gln395Ter) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146516] Chr5:36976090 [GRCh38]
Chr5:36976192 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.1297C>T (p.Gln433Ter) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146517] Chr5:36976204 [GRCh38]
Chr5:36976306 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.1372C>T (p.Gln458Ter) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146518] Chr5:36976279 [GRCh38]
Chr5:36976381 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.1447_1448del (p.Glu483fs) microsatellite Cornelia de Lange syndrome 1 [RCV000146519] Chr5:36976347..36976348 [GRCh38]
Chr5:36976449..36976450 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.145G>T (p.Glu49Ter) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146520] Chr5:36955552 [GRCh38]
Chr5:36955654 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.1477A>G (p.Lys493Glu) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146521] Chr5:36976384 [GRCh38]
Chr5:36976486 [GRCh37]
Chr5:5p13.2
likely pathogenic
NM_133433.4(NIPBL):c.1514_1517del (p.Arg505fs) deletion Cornelia de Lange syndrome 1 [RCV000146522] Chr5:36984691..36984694 [GRCh38]
Chr5:36984793..36984796 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.1576C>T (p.Gln526Ter) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146524] Chr5:36984756 [GRCh38]
Chr5:36984858 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.1591A>G (p.Thr531Ala) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146525] Chr5:36984771 [GRCh38]
Chr5:36984873 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_133433.4(NIPBL):c.1753del (p.Ile585fs) deletion Cornelia de Lange syndrome 1 [RCV000146526] Chr5:36984933 [GRCh38]
Chr5:36985035 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.1885C>T (p.Arg629Ter) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146527]|not provided [RCV000725320] Chr5:36985065 [GRCh38]
Chr5:36985167 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.201_212del (p.His67_Asn70del) deletion Cornelia de Lange syndrome 1 [RCV000146531] Chr5:36955605..36955616 [GRCh38]
Chr5:36955707..36955718 [GRCh37]
Chr5:5p13.2
likely pathogenic
NM_133433.4(NIPBL):c.2046del (p.Lys682fs) deletion Cornelia de Lange syndrome 1 [RCV000146532] Chr5:36985223 [GRCh38]
Chr5:36985325 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.2065A>T (p.Asn689Tyr) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146533] Chr5:36985245 [GRCh38]
Chr5:36985347 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_133433.4(NIPBL):c.206T>C (p.Leu69Pro) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146534] Chr5:36955613 [GRCh38]
Chr5:36955715 [GRCh37]
Chr5:5p13.2
likely pathogenic
NM_133433.4(NIPBL):c.2093C>G (p.Ser698Ter) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146535] Chr5:36985273 [GRCh38]
Chr5:36985375 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.2107_2108del (p.Pro703fs) deletion Cornelia de Lange syndrome 1 [RCV000146536] Chr5:36985285..36985286 [GRCh38]
Chr5:36985387..36985388 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.2108del (p.Pro703fs) deletion Cornelia de Lange syndrome 1 [RCV000146537] Chr5:36985285 [GRCh38]
Chr5:36985387 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.2256A>G (p.Glu752=) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146538] Chr5:36985436 [GRCh38]
Chr5:36985538 [GRCh37]
Chr5:5p13.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_133433.4(NIPBL):c.2260C>T (p.Arg754Ter) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146539] Chr5:36985440 [GRCh38]
Chr5:36985542 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146540]|History of neurodevelopmental disorder [RCV000719873]|not provided [RCV000513777]|not specified [RCV000254129] Chr5:36985474 [GRCh38]
Chr5:36985576 [GRCh37]
Chr5:5p13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_133433.4(NIPBL):c.2325A>G (p.Lys775=) single nucleotide variant not specified [RCV000146541] Chr5:36985505 [GRCh38]
Chr5:36985607 [GRCh37]
Chr5:5p13.2
benign
NM_133433.4(NIPBL):c.2389C>T (p.Arg797Ter) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146542] Chr5:36985569 [GRCh38]
Chr5:36985671 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.2422C>T (p.Arg808Ter) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146543] Chr5:36985602 [GRCh38]
Chr5:36985704 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.2451C>T (p.Asp817=) single nucleotide variant not specified [RCV000146545] Chr5:36985631 [GRCh38]
Chr5:36985733 [GRCh37]
Chr5:5p13.2
benign
NM_133433.4(NIPBL):c.2471C>T (p.Ser824Leu) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146546]|History of neurodevelopmental disorder [RCV000719218] Chr5:36985651 [GRCh38]
Chr5:36985753 [GRCh37]
Chr5:5p13.2
likely benign|uncertain significance
NM_133433.4(NIPBL):c.2489C>G (p.Ser830Ter) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146548] Chr5:36985669 [GRCh38]
Chr5:36985771 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.2494C>T (p.Arg832Ter) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146549] Chr5:36985674 [GRCh38]
Chr5:36985776 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.2500C>T (p.Arg834Ter) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146550] Chr5:36985680 [GRCh38]
Chr5:36985782 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.2505G>T (p.Gly835=) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146551] Chr5:36985685 [GRCh38]
Chr5:36985787 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_133433.4(NIPBL):c.2673C>T (p.Asp891=) single nucleotide variant Cornelia de Lange syndrome 1 [RCV001157506]|History of neurodevelopmental disorder [RCV000715800]|not specified [RCV000146554] Chr5:36985853 [GRCh38]
Chr5:36985955 [GRCh37]
Chr5:5p13.2
likely benign
NM_133433.4(NIPBL):c.2711del (p.Arg904fs) deletion Cornelia de Lange syndrome 1 [RCV000146555] Chr5:36985891 [GRCh38]
Chr5:36985993 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.2772C>T (p.Asn924=) single nucleotide variant not specified [RCV000146556] Chr5:36985952 [GRCh38]
Chr5:36986054 [GRCh37]
Chr5:5p13.2
benign
NM_133433.4(NIPBL):c.2773_2774del (p.Lys925fs) deletion Cornelia de Lange syndrome 1 [RCV000146557] Chr5:36985953..36985954 [GRCh38]
Chr5:36986055..36986056 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.2832T>A (p.Tyr944Ter) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146558] Chr5:36986012 [GRCh38]
Chr5:36986114 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.2903A>G (p.Asn968Ser) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146559] Chr5:36986083 [GRCh38]
Chr5:36986185 [GRCh37]
Chr5:5p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_133433.4(NIPBL):c.2903del (p.Asn968fs) deletion Cornelia de Lange syndrome 1 [RCV000146560] Chr5:36986082 [GRCh38]
Chr5:36986184 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.2931A>G (p.Glu977=) single nucleotide variant Cornelia de Lange syndrome 1 [RCV001157508]|not specified [RCV000146561] Chr5:36986111 [GRCh38]
Chr5:36986213 [GRCh37]
Chr5:5p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_133433.4(NIPBL):c.294C>T (p.Ala98=) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000401918]|not provided [RCV000945874]|not specified [RCV000146562] Chr5:36958167 [GRCh38]
Chr5:36958269 [GRCh37]
Chr5:5p13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_133433.4(NIPBL):c.3060_3063del (p.Glu1021fs) microsatellite Cornelia de Lange syndrome 1 [RCV000146563]|not provided [RCV000255232] Chr5:36986238..36986241 [GRCh38]
Chr5:36986340..36986343 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.3103C>G (p.Pro1035Ala) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146564] Chr5:36986283 [GRCh38]
Chr5:36986385 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_133433.4(NIPBL):c.3109A>G (p.Lys1037Glu) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146565]|not provided [RCV000439281] Chr5:36986289 [GRCh38]
Chr5:36986391 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_133433.4(NIPBL):c.310_317del (p.Pro104fs) deletion Cornelia de Lange syndrome 1 [RCV000146566] Chr5:36958181..36958188 [GRCh38]
Chr5:36958283..36958290 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.3121+11T>G single nucleotide variant Cornelia de Lange syndrome 1 [RCV000384599]|not specified [RCV000146567] Chr5:36986312 [GRCh38]
Chr5:36986414 [GRCh37]
Chr5:5p13.2
benign|likely benign
NM_133433.4(NIPBL):c.3122-2A>G single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146568] Chr5:36995620 [GRCh38]
Chr5:36995722 [GRCh37]
Chr5:5p13.2
likely pathogenic
NM_133433.4(NIPBL):c.3304+5G>A single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146569] Chr5:36995809 [GRCh38]
Chr5:36995911 [GRCh37]
Chr5:5p13.2
likely pathogenic
NM_133433.4(NIPBL):c.3305-1G>T single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146570] Chr5:37000372 [GRCh38]
Chr5:37000474 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.3322A>T (p.Lys1108Ter) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146571] Chr5:37000390 [GRCh38]
Chr5:37000492 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.332G>A (p.Ser111Asn) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146572] Chr5:36958205 [GRCh38]
Chr5:36958307 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_133433.4(NIPBL):c.3369A>C (p.Arg1123Ser) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146573] Chr5:37000437 [GRCh38]
Chr5:37000539 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_133433.4(NIPBL):c.3423A>G (p.Ser1141=) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146574]|not specified [RCV000245614] Chr5:37000491 [GRCh38]
Chr5:37000593 [GRCh37]
Chr5:5p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_133433.4(NIPBL):c.3440G>A (p.Arg1147Gln) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146575] Chr5:37000508 [GRCh38]
Chr5:37000610 [GRCh37]
Chr5:5p13.2
likely pathogenic
NM_133433.4(NIPBL):c.345A>G (p.Arg115=) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146576] Chr5:36958218 [GRCh38]
Chr5:36958320 [GRCh37]
Chr5:5p13.2
likely pathogenic|uncertain significance
NM_133433.4(NIPBL):c.3461_3462del (p.Asp1153_Ser1154insTer) deletion Cornelia de Lange syndrome 1 [RCV000146577] Chr5:37000528..37000529 [GRCh38]
Chr5:37000630..37000631 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.3503-9T>G single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146578] Chr5:37000808 [GRCh38]
Chr5:37000910 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_133433.4(NIPBL):c.3526_3530del (p.Glu1176fs) deletion Cornelia de Lange syndrome 1 [RCV000146579] Chr5:37000836..37000840 [GRCh38]
Chr5:37000938..37000942 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.3541A>C (p.Arg1181=) single nucleotide variant Cornelia de Lange syndrome 1 [RCV001085566]|History of neurodevelopmental disorder [RCV000715958]|not provided [RCV000826328]|not specified [RCV000146580] Chr5:37000855 [GRCh38]
Chr5:37000957 [GRCh37]
Chr5:5p13.2
benign|likely benign
NM_133433.4(NIPBL):c.3575-3C>G single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146581] Chr5:37000986 [GRCh38]
Chr5:37001088 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.358+1G>T single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146582] Chr5:36958232 [GRCh38]
Chr5:36958334 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.358+5G>C single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146583] Chr5:36958236 [GRCh38]
Chr5:36958338 [GRCh37]
Chr5:5p13.2
likely pathogenic
NM_133433.4(NIPBL):c.3616A>G (p.Ile1206Val) single nucleotide variant not specified [RCV000146584] Chr5:37001030 [GRCh38]
Chr5:37001132 [GRCh37]
Chr5:5p13.2
benign
NM_133433.4(NIPBL):c.3660G>A (p.Ala1220=) single nucleotide variant Cornelia de Lange syndrome 1 [RCV001152039]|not provided [RCV000937244]|not specified [RCV000146585] Chr5:37001074 [GRCh38]
Chr5:37001176 [GRCh37]
Chr5:5p13.2
likely benign|uncertain significance
NM_133433.4(NIPBL):c.3788_3789del (p.Val1263fs) microsatellite Cornelia de Lange syndrome 1 [RCV000146586] Chr5:37003278..37003279 [GRCh38]
Chr5:37003380..37003381 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.3804_3818del (p.Leu1269_Ile1273del) deletion Cornelia de Lange syndrome 1 [RCV000146587] Chr5:37003291..37003305 [GRCh38]
Chr5:37003393..37003407 [GRCh37]
Chr5:5p13.2
likely pathogenic
NM_133433.4(NIPBL):c.3818T>G (p.Ile1273Ser) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146588] Chr5:37003310 [GRCh38]
Chr5:37003412 [GRCh37]
Chr5:5p13.2
likely pathogenic
NM_133433.4(NIPBL):c.3851A>G (p.Asn1284Ser) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146589] Chr5:37003343 [GRCh38]
Chr5:37003445 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_133433.4(NIPBL):c.3855+1G>T single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146590] Chr5:37003348 [GRCh38]
Chr5:37003450 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.3855+5G>A single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146591] Chr5:37003352 [GRCh38]
Chr5:37003454 [GRCh37]
Chr5:5p13.2
likely pathogenic
NM_133433.4(NIPBL):c.3856-12A>C single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146592] Chr5:37006345 [GRCh38]
Chr5:37006447 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_133433.4(NIPBL):c.3866_3869del (p.Thr1289fs) deletion Cornelia de Lange syndrome 1 [RCV000146593] Chr5:37006366..37006369 [GRCh38]
Chr5:37006468..37006471 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.3868G>A (p.Glu1290Lys) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146594] Chr5:37006369 [GRCh38]
Chr5:37006471 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_133433.4(NIPBL):c.3874G>T (p.Glu1292Ter) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146595] Chr5:37006375 [GRCh38]
Chr5:37006477 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.3G>T (p.Met1Ile) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146596] Chr5:36953699 [GRCh38]
Chr5:36953801 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.4017C>A (p.Tyr1339Ter) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146597] Chr5:37006518 [GRCh38]
Chr5:37006620 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.4088-2A>T single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146598] Chr5:37007321 [GRCh38]
Chr5:37007423 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.4098_4101del (p.Leu1366fs) deletion Cornelia de Lange syndrome 1 [RCV000146599] Chr5:37007332..37007335 [GRCh38]
Chr5:37007434..37007437 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.4143_4144del (p.Arg1381fs) microsatellite Cornelia de Lange syndrome 1 [RCV000146600] Chr5:37007374..37007375 [GRCh38]
Chr5:37007476..37007477 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.4240-14T>G single nucleotide variant Cornelia de Lange syndrome 1 [RCV000334474]|not specified [RCV000146601] Chr5:37007994 [GRCh38]
Chr5:37008096 [GRCh37]
Chr5:5p13.2
benign|likely benign
NM_133433.4(NIPBL):c.4240-1G>C single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146602] Chr5:37008007 [GRCh38]
Chr5:37008109 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.4240-7T>C single nucleotide variant Cornelia de Lange syndrome 1 [RCV000755645]|not specified [RCV000146603] Chr5:37008001 [GRCh38]
Chr5:37008103 [GRCh37]
Chr5:5p13.2
likely benign
NM_133433.4(NIPBL):c.4275_4287del (p.Glu1425fs) deletion Cornelia de Lange syndrome 1 [RCV000146604] Chr5:37008042..37008054 [GRCh38]
Chr5:37008144..37008156 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.4320+14A>G single nucleotide variant Cornelia de Lange syndrome 1 [RCV000395753]|not specified [RCV000146605] Chr5:37008102 [GRCh38]
Chr5:37008204 [GRCh37]
Chr5:5p13.2
benign|likely benign
NM_133433.4(NIPBL):c.4320+1G>A single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146606] Chr5:37008089 [GRCh38]
Chr5:37008191 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.4321-15A>G single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146607] Chr5:37008608 [GRCh38]
Chr5:37008710 [GRCh37]
Chr5:5p13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_133433.4(NIPBL):c.4421G>C (p.Arg1474Thr) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146608] Chr5:37008723 [GRCh38]
Chr5:37008825 [GRCh37]
Chr5:5p13.2
likely pathogenic
NM_133433.4(NIPBL):c.4439T>G (p.Met1480Arg) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146609] Chr5:37010104 [GRCh38]
Chr5:37010206 [GRCh37]
Chr5:5p13.2
likely pathogenic|conflicting interpretations of pathogenicity
NM_133433.4(NIPBL):c.4535A>T (p.Asn1512Ile) single nucleotide variant not specified [RCV000146610] Chr5:37010200 [GRCh38]
Chr5:37010302 [GRCh37]
Chr5:5p13.2
likely benign
NM_133433.4(NIPBL):c.4543G>T (p.Glu1515Ter) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146611] Chr5:37010208 [GRCh38]
Chr5:37010310 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.4561-16C>T single nucleotide variant not specified [RCV000146612] Chr5:37014667 [GRCh38]
Chr5:37014769 [GRCh37]
Chr5:5p13.2
benign
NM_133433.4(NIPBL):c.456del (p.Ser153fs) deletion Cornelia de Lange syndrome 1 [RCV000146613] Chr5:36961580 [GRCh38]
Chr5:36961682 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.4593T>G (p.Tyr1531Ter) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146614] Chr5:37014715 [GRCh38]
Chr5:37014817 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.4636del (p.Lys1548fs) deletion Cornelia de Lange syndrome 1 [RCV000146615] Chr5:37014757 [GRCh38]
Chr5:37014859 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.4643+1G>C single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146616] Chr5:37014766 [GRCh38]
Chr5:37014868 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.4663del (p.Glu1555fs) deletion Cornelia de Lange syndrome 1 [RCV000146617] Chr5:37016057 [GRCh38]
Chr5:37016159 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.4674C>T (p.Tyr1558=) single nucleotide variant not specified [RCV000146618] Chr5:37016068 [GRCh38]
Chr5:37016170 [GRCh37]
Chr5:5p13.2
benign
NM_133433.4(NIPBL):c.4684_4687del (p.Phe1562fs) deletion Cornelia de Lange syndrome 1 [RCV000146619] Chr5:37016076..37016079 [GRCh38]
Chr5:37016178..37016181 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.4712C>A (p.Ser1571Ter) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146620] Chr5:37016106 [GRCh38]
Chr5:37016208 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.4731A>G (p.Glu1577=) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000146621]|not specified [RCV000312727] Chr5:37016125 [GRCh38]
Chr5:37016227 [GRCh37]
Chr5:5p13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_133433.4(NIPBL):c.4773G>T (p.Leu1591=) single nucleotide variant not specified [RCV000146622] Chr5:37016167 [GRCh38]
Chr5:37016269 [GRCh37]
Chr5:5p13.2
benign
NM_133433.4(NIPBL):c.4777-12T>C single nucleotide variant not specified [RCV000146623] Chr5:37017007 [GRCh38]
Chr5:37017109 [GRCh37]
Chr5:5p13.2
likely benign
NM_133433.4(NIPBL):c.4818_4819del (p.Arg1606fs) microsatellite Cornelia de Lange syndrome 1 [RCV000146624] Chr5:37017058..37017059 [GRCh38]
Chr5:37017160..37017161 [GRCh37]
Chr5:5p13.2
pathogenic
NM_133433.4(NIPBL):c.4959A>G (p.Lys1653=) single nucleotide variant Cornelia de Lange syndrome 1 [RCV001155911]|History of neurodevelopmental disorder [RCV000719016]|not specified [RCV000146625] Chr5:37019349 [GRCh38]
Chr5:37019451 [GRCh37]
Chr5:5p13.2
benign|likely benign
NM_133433.4(NIPBL):c.5010+9C>A single nucleotide variant not specified [RCV000146626] Chr5:37019409 [GRCh38]
Chr5:37019511 [GRCh37]
Chr5:5p13.2
benign
NM_133433.4(NIPBL):c.5033_5039del (p.Ala1678fs) deletion Cornelia de Lange syndrome 1 [RCV000146627]