CDKN1C (cyclin dependent kinase inhibitor 1C) - Rat Genome Database
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Gene: CDKN1C (cyclin dependent kinase inhibitor 1C) Homo sapiens
Analyze
Symbol: CDKN1C
Name: cyclin dependent kinase inhibitor 1C
RGD ID: 1322980
HGNC Page HGNC
Description: Exhibits protein kinase inhibitor activity. Involved in several processes, including negative regulation of cyclin-dependent protein kinase activity; positive regulation of transforming growth factor beta receptor signaling pathway; and regulation of transcription, DNA-templated. Localizes to cytoplasm and nucleus. Implicated in Beckwith-Wiedemann syndrome; IMAGe syndrome; and hyperinsulinism.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BWCR; BWS; cyclin-dependent kinase inhibitor 1C; cyclin-dependent kinase inhibitor 1C (p57, Kip2); cyclin-dependent kinase inhibitor p57; IMAGE; KIP2; p57; p57Kip2; WBS
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 Ensembl112,883,213 - 2,885,773 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl112,883,213 - 2,885,775 (-)EnsemblGRCh38hg38GRCh38
GRCh38112,883,218 - 2,885,775 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37112,904,448 - 2,907,005 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36112,861,441 - 2,863,551 (-)NCBINCBI36hg18NCBI36
Build 34112,861,440 - 2,863,537NCBI
Celera112,939,161 - 2,941,708 (-)NCBI
Cytogenetic Map11p15.4NCBI
HuRef112,692,706 - 2,695,485 (-)NCBIHuRef
CHM1_1112,903,367 - 2,905,909 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP,ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,6-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (ISO)
4-hydroxynon-2-enal  (EXP)
4-nonylphenol  (EXP)
5-aza-2'-deoxycytidine  (EXP)
5-azacytidine  (EXP)
5-fluorouracil  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
9-cis-retinoic acid  (EXP)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (ISO)
all-trans-4-oxoretinoic acid  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
amphibole asbestos  (EXP)
anthracen-2-amine  (ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (ISO)
atrazine  (EXP,ISO)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
berberine  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
buta-1,3-diene  (ISO)
butanal  (EXP)
cadmium dichloride  (ISO)
calycosin  (EXP)
carbon nanotube  (EXP,ISO)
carmustine  (EXP)
chloroprene  (ISO)
choline  (ISO)
cisplatin  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
crocidolite asbestos  (EXP,ISO)
cyclophosphamide  (ISO)
cyclosporin A  (EXP)
cytarabine  (EXP)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
diazinon  (EXP,ISO)
dibutyl phthalate  (ISO)
dieldrin  (ISO)
diethylstilbestrol  (EXP,ISO)
dinophysistoxin 1  (EXP)
dioxygen  (EXP)
disodium selenite  (EXP)
disulfiram  (EXP)
diuron  (ISO)
divanadium pentaoxide  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
emodin  (ISO)
ethanol  (ISO)
fenamidone  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
genistein  (EXP,ISO)
glycidol  (ISO)
harmine  (EXP)
hydrogen peroxide  (EXP)
hydroquinone  (EXP)
hydroxyurea  (ISO)
indometacin  (EXP)
iron atom  (ISO)
iron(0)  (ISO)
isoliquiritigenin  (ISO)
isotretinoin  (EXP)
L-methionine  (ISO)
lamivudine  (EXP)
linalool  (EXP)
lipopolysaccharide  (EXP,ISO)
lithium chloride  (EXP)
manganese(II) chloride  (ISO)
menadione  (EXP)
methylmercury chloride  (EXP)
methylseleninic acid  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
monobenzyl phthalate  (ISO)
monoethyl phthalate  (ISO)
monosodium L-glutamate  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
nickel subsulfide  (ISO)
oxaliplatin  (ISO)
p-anisidine  (ISO)
paracetamol  (EXP)
paraquat  (ISO)
pentanal  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
pioglitazone  (EXP)
pirinixic acid  (EXP,ISO)
progesterone  (EXP,ISO)
pyrogallol  (ISO)
quercetin  (EXP)
rac-lactic acid  (EXP)
reactive oxygen species  (EXP)
resveratrol  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
serpentine asbestos  (EXP)
silicon dioxide  (EXP)
simvastatin  (EXP)
sodium arsenite  (ISO)
sodium dodecyl sulfate  (EXP)
sodium fluoride  (ISO)
sulforaphane  (EXP)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
theophylline  (EXP)
thimerosal  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
toluene 2,4-diisocyanate  (ISO)
topotecan  (EXP,ISO)
trichostatin A  (EXP)
triclosan  (EXP)
trimellitic anhydride  (ISO)
troglitazone  (EXP)
tunicamycin  (ISO)
urethane  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vorinostat  (EXP,ISO)
zearalenone  (EXP)
zidovudine  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IDA)
nucleus  (IDA,IEA)

Molecular Function

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

Human Phenotype
Abnormality of the cardiovascular system  (IAGP)
Accelerated skeletal maturation  (IAGP)
Adrenal hypoplasia  (IAGP)
Adrenocortical carcinoma  (IAGP)
Adrenocortical cytomegaly  (IAGP)
Asthma  (IAGP)
Asymmetric growth  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bifid scrotum  (IAGP)
Cafe-au-lait spot  (IAGP)
Cardiomegaly  (IAGP)
Cardiomyopathy  (IAGP)
Cleft palate  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coarse facial features  (IAGP)
Cryptorchidism  (IAGP)
Dandy-Walker malformation  (IAGP)
Decreased response to growth hormone stimuation test  (IAGP)
Decreased testicular size  (IAGP)
Delayed skeletal maturation  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Diastasis recti  (IAGP)
Dysmenorrhea  (IAGP)
Ectrodactyly  (IAGP)
Enlarged kidney  (IAGP)
Epiphyseal dysplasia  (IAGP)
Feeding difficulties in infancy  (IAGP)
Frontal bossing  (IAGP)
Global developmental delay  (IAGP)
Gonadoblastoma  (IAGP)
Hemihypertrophy  (IAGP)
Hepatoblastoma  (IAGP)
Hepatomegaly  (IAGP)
Hydronephrosis  (IAGP)
Hypercalcemia  (IAGP)
Hypercalciuria  (IAGP)
Hypoglycemia  (IAGP)
Hypogonadism  (IAGP)
Hypoplastic fingernail  (IAGP)
Hypospadias  (IAGP)
Hypothyroidism  (IAGP)
Hypotonia  (IAGP)
Inguinal hernia  (IAGP)
Intrauterine growth retardation  (IAGP)
Large fontanelles  (IAGP)
Low-set ears  (IAGP)
Macrocephaly  (IAGP)
Macroglossia  (IAGP)
Metaphyseal dysplasia  (IAGP)
Micrognathia  (IAGP)
Micromelia  (IAGP)
Micropenis  (IAGP)
Microphallus  (IAGP)
Midface retrusion  (IAGP)
Motor delay  (IAGP)
Neonatal hypoglycemia  (IAGP)
Nephroblastoma  (IAGP)
Nephrocalcinosis  (IAGP)
Nephrolithiasis  (IAGP)
Nevus flammeus  (IAGP)
Oligohydramnios  (IAGP)
Omphalocele  (IAGP)
Overgrowth  (IAGP)
Overgrowth of external genitalia  (IAGP)
Pancreatic hyperplasia  (IAGP)
Polydactyly  (IAGP)
Posterior helix pit  (IAGP)
Postnatal growth retardation  (IAGP)
Prominent forehead  (IAGP)
Prominent metopic ridge  (IAGP)
Prominent occiput  (IAGP)
Proptosis  (IAGP)
Relative macrocephaly  (IAGP)
Renal cortical cysts  (IAGP)
Short 5th finger  (IAGP)
Short nose  (IAGP)
Short stature  (IAGP)
Small for gestational age  (IAGP)
Small placenta  (IAGP)
Syndactyly  (IAGP)
Triangular face  (IAGP)
Vesicoureteral reflux  (IAGP)
References

Additional References at PubMed
PMID:1786629   PMID:7729683   PMID:7729684   PMID:8610162   PMID:8640800   PMID:8655143   PMID:8841187   PMID:8889548   PMID:8934543   PMID:9106657   PMID:9465025   PMID:9840943  
PMID:10323243   PMID:10424811   PMID:10486249   PMID:10713702   PMID:10764802   PMID:11301189   PMID:11746698   PMID:11815601   PMID:11891335   PMID:11891530   PMID:11965547   PMID:12107413  
PMID:12239171   PMID:12477932   PMID:12514787   PMID:12532471   PMID:12553041   PMID:12586619   PMID:12665691   PMID:12790805   PMID:12925736   PMID:12947099   PMID:12963725   PMID:14530263  
PMID:14612924   PMID:14627666   PMID:14671317   PMID:15007390   PMID:15332324   PMID:15489334   PMID:15492797   PMID:15580267   PMID:15749785   PMID:15821902   PMID:15888726   PMID:15900410  
PMID:15936816   PMID:15952111   PMID:15978938   PMID:15985436   PMID:16061564   PMID:16124066   PMID:16289477   PMID:16357845   PMID:16575194   PMID:16705184   PMID:16936778   PMID:16943770  
PMID:16950772   PMID:17050328   PMID:17112701   PMID:17351341   PMID:17464323   PMID:17572845   PMID:17885492   PMID:17986608   PMID:18029348   PMID:18325103   PMID:18430730   PMID:18521080  
PMID:18647205   PMID:18660753   PMID:18676680   PMID:18822693   PMID:19064572   PMID:19109226   PMID:19116812   PMID:19141585   PMID:19145201   PMID:19170105   PMID:19170196   PMID:19221586  
PMID:19340297   PMID:19386358   PMID:19453261   PMID:19542869   PMID:19544095   PMID:19544458   PMID:19571260   PMID:19590511   PMID:19616848   PMID:19625176   PMID:19686743   PMID:19692168  
PMID:19734939   PMID:20056082   PMID:20106982   PMID:20301471   PMID:20301499   PMID:20301533   PMID:20301568   PMID:20360068   PMID:20484977   PMID:20503313   PMID:20565244   PMID:20626178  
PMID:20634891   PMID:20705733   PMID:21048031   PMID:21205084   PMID:21278784   PMID:21360479   PMID:21371741   PMID:21538272   PMID:21575583   PMID:21767919   PMID:21769918   PMID:21816904  
PMID:21873635   PMID:22002319   PMID:22064387   PMID:22079941   PMID:22126772   PMID:22197173   PMID:22205991   PMID:22233925   PMID:22245958   PMID:22292406   PMID:22394561   PMID:22541097  
PMID:22569127   PMID:22592318   PMID:22634751   PMID:22705236   PMID:22980580   PMID:22992698   PMID:23008285   PMID:23153226   PMID:23171462   PMID:23187808   PMID:23197429   PMID:23244105  
PMID:23421998   PMID:23438793   PMID:23455922   PMID:23580324   PMID:23602568   PMID:23828667   PMID:23842948   PMID:23887308   PMID:23963898   PMID:24065356   PMID:24098681   PMID:24613849  
PMID:24624461   PMID:24652995   PMID:24848107   PMID:24852133   PMID:24986528   PMID:25057881   PMID:25195859   PMID:25216674   PMID:25262539   PMID:25339094   PMID:25427884   PMID:25588980  
PMID:25852190   PMID:25960208   PMID:26077438   PMID:26091021   PMID:26161420   PMID:26186194   PMID:26271467   PMID:26358311   PMID:26362858   PMID:26496610   PMID:26606000   PMID:26857110  
PMID:26985855   PMID:27170453   PMID:27221896   PMID:27402879   PMID:27436784   PMID:27611768   PMID:28106536   PMID:28413121   PMID:28425505   PMID:28508599   PMID:28514442   PMID:28574027  
PMID:28803575   PMID:28930539   PMID:28933484   PMID:29207083   PMID:29277274   PMID:29295723   PMID:29325014   PMID:29428729   PMID:29511350   PMID:29614816   PMID:29661169   PMID:29734178  
PMID:30077532   PMID:30119259   PMID:30178471   PMID:30378143   PMID:30544064   PMID:30686519   PMID:30792202   PMID:30941985   PMID:31059007   PMID:31194812   PMID:31367252   PMID:31497289  
PMID:31708464   PMID:31804259   PMID:31833013   PMID:31961825   PMID:32055942   PMID:32346031   PMID:32686837  


Genomics

Comparative Map Data
CDKN1C
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl112,883,213 - 2,885,773 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl112,883,213 - 2,885,775 (-)EnsemblGRCh38hg38GRCh38
GRCh38112,883,218 - 2,885,775 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37112,904,448 - 2,907,005 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36112,861,441 - 2,863,551 (-)NCBINCBI36hg18NCBI36
Build 34112,861,440 - 2,863,537NCBI
Celera112,939,161 - 2,941,708 (-)NCBI
Cytogenetic Map11p15.4NCBI
HuRef112,692,706 - 2,695,485 (-)NCBIHuRef
CHM1_1112,903,367 - 2,905,909 (-)NCBICHM1_1
Cdkn1c
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397143,012,076 - 143,014,802 (-)NCBIGRCm39mm39
GRCm39 Ensembl7143,012,076 - 143,014,787 (-)Ensembl
GRCm387143,458,339 - 143,461,059 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7143,458,339 - 143,461,050 (-)EnsemblGRCm38mm10GRCm38
MGSCv377150,644,244 - 150,646,955 (-)NCBIGRCm37mm9NCBIm37
MGSCv367143,267,730 - 143,270,386 (-)NCBImm8
Celera7143,214,045 - 143,216,756 (-)NCBICelera
Cytogenetic Map7F5NCBI
cM Map788.22NCBI
Cdkn1c
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21198,655,394 - 198,658,097 (-)NCBI
Rnor_6.0 Ensembl1216,661,080 - 216,663,721 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01216,661,067 - 216,663,791 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01223,521,098 - 223,524,053 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41203,835,215 - 203,837,844 (-)NCBIRGSC3.4rn4RGSC3.4
Celera1196,223,813 - 196,226,467 (-)NCBICelera
Cytogenetic Map1q42NCBI
Cdkn1c
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495542214,576,971 - 14,578,868 (-)NCBIChiLan1.0ChiLan1.0
CDKN1C
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1112,937,122 - 2,938,022 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0112,908,537 - 2,911,134 (-)NCBIMhudiblu_PPA_v0panPan3
CDKN1C
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11846,860,636 - 46,861,697 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1845,470,401 - 45,472,911 (-)NCBI
ROS_Cfam_1.01847,540,589 - 47,543,107 (-)NCBI
UMICH_Zoey_3.11846,985,894 - 46,988,403 (-)NCBI
UNSW_CanFamBas_1.01846,568,604 - 46,571,113 (-)NCBI
UU_Cfam_GSD_1.01847,315,144 - 47,317,648 (-)NCBI
Cdkn1c
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_ltri_2NW_0244049473,080,687 - 3,082,266 (-)NCBI
SpeTri2.0NW_0049367941,023,891 - 1,025,470 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CDKN1C
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl22,019,490 - 2,021,853 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.122,019,391 - 2,022,092 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
CDKN1C
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.112,696,382 - 2,699,054 (-)NCBI
ChlSab1.1 Ensembl12,696,233 - 2,699,028 (-)Ensembl
Cdkn1c
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476715,642,991 - 15,645,648 (-)NCBI

Position Markers
MARC_54883-54884:1155673702:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,906,423 - 2,906,994UniSTSGRCh37
Celera112,941,136 - 2,941,707UniSTS
HuRef112,694,913 - 2,695,484UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR25hsa-miR-25-3pMirtarbaseexternal_infoqRT-PCR//Luciferase reporter assay//Western blotFunctional MTI19153141
MIR25hsa-miR-25-3pOncomiRDBexternal_infoNANA19153141
MIR222hsa-miR-222-3pMirecordsexternal_infoNANA19589872
MIR92Bhsa-miR-92b-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI19544458
MIR92Bhsa-miR-92b-3pMirecordsexternal_infoNANA19544458
MIR221hsa-miR-221-3pMirtarbaseexternal_infoReporter assay//Luciferase reporter assay//qRT-PCRFunctional MTI18521080
MIR221hsa-miR-221-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI21278784
MIR221hsa-miR-221-3pOncomiRDBexternal_infoNANA21278784
MIR221hsa-miR-221-3pOncomiRDBexternal_infoNANA18521080
MIR222hsa-miR-222-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI19589872
MIR222hsa-miR-222-3pMirtarbaseexternal_infoLuciferase reporter assay//Reporter assay;OtherFunctional MTI18413744
MIR221hsa-miR-221-5pMirecordsexternal_infoNANA18521080
MIR221hsa-miR-221-5pMirecordsexternal_infoNANA21226887

Predicted Target Of
Summary Value
Count of predictions:1654
Count of miRNA genes:345
Interacting mature miRNAs:386
Transcripts:ENST00000313407, ENST00000380725, ENST00000414822, ENST00000430149, ENST00000440480, ENST00000471157
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 2 2
Medium 2231 2281 1238 197 596 45 4139 2085 2332 324 1284 1350 161 1 1204 2709 4
Low 196 684 473 415 960 408 214 102 1393 87 162 229 13 79 2
Below cutoff 11 25 9 9 259 9 3 8 8 6 11 30 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001122630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001122631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001362474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001362475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC001228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC013791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM673714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD676249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D64137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU570054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT583840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U22398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U48869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000380725   ⟹   ENSP00000370101
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl112,883,240 - 2,885,749 (-)Ensembl
RefSeq Acc Id: ENST00000414822   ⟹   ENSP00000413720
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl112,883,213 - 2,885,771 (-)Ensembl
RefSeq Acc Id: ENST00000430149   ⟹   ENSP00000411552
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl112,883,218 - 2,885,765 (-)Ensembl
RefSeq Acc Id: ENST00000440480   ⟹   ENSP00000411257
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl112,883,218 - 2,885,773 (-)Ensembl
RefSeq Acc Id: ENST00000471157
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl112,883,675 - 2,884,701 (-)Ensembl
RefSeq Acc Id: ENST00000647251   ⟹   ENSP00000496631
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl112,883,632 - 2,885,728 (-)Ensembl
RefSeq Acc Id: NM_000076   ⟹   NP_000067
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38112,883,218 - 2,885,765 (-)NCBI
GRCh37112,904,448 - 2,907,063 (-)NCBI
Build 36112,861,441 - 2,863,551 (-)NCBI Archive
HuRef112,692,706 - 2,695,485 (-)ENTREZGENE
CHM1_1112,903,367 - 2,905,909 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001122630   ⟹   NP_001116102
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38112,883,218 - 2,885,775 (-)NCBI
GRCh37112,904,448 - 2,907,063 (-)NCBI
HuRef112,692,706 - 2,695,485 (-)ENTREZGENE
CHM1_1112,903,367 - 2,905,909 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001122631   ⟹   NP_001116103
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38112,883,218 - 2,885,775 (-)NCBI
GRCh37112,904,448 - 2,907,063 (-)NCBI
HuRef112,692,706 - 2,695,485 (-)ENTREZGENE
CHM1_1112,903,367 - 2,905,909 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001362474   ⟹   NP_001349403
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38112,883,218 - 2,885,775 (-)NCBI
RefSeq Acc Id: NM_001362475   ⟹   NP_001349404
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38112,883,218 - 2,885,775 (-)NCBI
Reference Sequences
RefSeq Acc Id: NP_001116103   ⟸   NM_001122631
- Peptide Label: isoform b
- UniProtKB: P49918 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001116102   ⟸   NM_001122630
- Peptide Label: isoform b
- UniProtKB: P49918 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_000067   ⟸   NM_000076
- Peptide Label: isoform a
- UniProtKB: P49918 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001349404   ⟸   NM_001362475
- Peptide Label: isoform c
RefSeq Acc Id: NP_001349403   ⟸   NM_001362474
- Peptide Label: isoform a
RefSeq Acc Id: ENSP00000413720   ⟸   ENST00000414822
RefSeq Acc Id: ENSP00000411257   ⟸   ENST00000440480
RefSeq Acc Id: ENSP00000411552   ⟸   ENST00000430149
RefSeq Acc Id: ENSP00000370101   ⟸   ENST00000380725
RefSeq Acc Id: ENSP00000496631   ⟸   ENST00000647251

Promoters
RGD ID:6788609
Promoter ID:HG_KWN:12006
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:NM_001122630,   NM_001122631,   OTTHUMT00000027774,   OTTHUMT00000027776,   OTTHUMT00000027777,   OTTHUMT00000027778,   UC001LWR.2,   UC001LWT.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36112,862,496 - 2,863,562 (-)MPROMDB
RGD ID:7219363
Promoter ID:EPDNEW_H15427
Type:initiation region
Name:CDKN1C_1
Description:cyclin dependent kinase inhibitor 1C
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
GRCh38112,885,773 - 2,885,833EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001122630.2(CDKN1C):c.232G>A (p.Ala78Thr) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000528594] Chr11:2885225 [GRCh38]
Chr11:2906455 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.516_527del (p.168_169AP[6]) deletion Beckwith-Wiedemann syndrome [RCV000551652] Chr11:2884930..2884941 [GRCh38]
Chr11:2906160..2906171 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.300dup (p.Ala101fs) duplication Beckwith-Wiedemann syndrome [RCV000172989] Chr11:2885156..2885157 [GRCh38]
Chr11:2906386..2906387 [GRCh37]
Chr11:11p15.4
pathogenic
NM_001122630.2(CDKN1C):c.367dup (p.Glu123fs) duplication Beckwith-Wiedemann syndrome [RCV000172990] Chr11:2885089..2885090 [GRCh38]
Chr11:2906319..2906320 [GRCh37]
Chr11:11p15.4
pathogenic
NM_001122630.2(CDKN1C):c.803G>T (p.Arg268Leu) single nucleotide variant Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies [RCV000240673]|Russell-Silver syndrome [RCV000172991] Chr11:2884119 [GRCh38]
Chr11:2905349 [GRCh37]
Chr11:11p15.4
pathogenic|not provided
NM_001122630.2(CDKN1C):c.190G>A (p.Gly64Arg) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000547901] Chr11:2885267 [GRCh38]
Chr11:2906497 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.555_560GGCCCC[1] (p.186_187AP[9]) microsatellite Beckwith-Wiedemann syndrome [RCV000552132] Chr11:2884891..2884896 [GRCh38]
Chr11:2906121..2906126 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.597C>G (p.Pro199=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000529614] Chr11:2884860 [GRCh38]
Chr11:2906090 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.593_616del (p.186_187AP[6]) deletion Beckwith-Wiedemann syndrome [RCV000545468] Chr11:2884841..2884864 [GRCh38]
Chr11:2906071..2906094 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_001122630.2(CDKN1C):c.540_545dup (p.168_169AP[9]) duplication Beckwith-Wiedemann syndrome [RCV000555319] Chr11:2884911..2884912 [GRCh38]
Chr11:2906141..2906142 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.362C>T (p.Ala121Val) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000529122] Chr11:2885095 [GRCh38]
Chr11:2906325 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.495G>A (p.Ala165=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000526441] Chr11:2884962 [GRCh38]
Chr11:2906192 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.719_730delinsGTGC (p.Ala240fs) indel Beckwith-Wiedemann syndrome [RCV000549523] Chr11:2884727..2884738 [GRCh38]
Chr11:2905957..2905968 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_001122630.2(CDKN1C):c.567_596dup (p.186_187AP[15]) indel Beckwith-Wiedemann syndrome [RCV000532843] Chr11:2884860..2884861 [GRCh38]
Chr11:2906090..2906091 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.793T>G (p.Phe265Val) single nucleotide variant Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies [RCV000029183] Chr11:2884129 [GRCh38]
Chr11:2905359 [GRCh37]
Chr11:11p15.4
pathogenic
NM_001122630.2(CDKN1C):c.794T>C (p.Phe265Ser) single nucleotide variant Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies [RCV000029184] Chr11:2884128 [GRCh38]
Chr11:2905358 [GRCh37]
Chr11:11p15.4
pathogenic
NM_001122630.2(CDKN1C):c.803G>C (p.Arg268Pro) single nucleotide variant Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies [RCV000029185] Chr11:2884119 [GRCh38]
Chr11:2905349 [GRCh37]
Chr11:11p15.4
pathogenic
NM_001122630.2(CDKN1C):c.787G>A (p.Asp263Asn) single nucleotide variant Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies [RCV000029186] Chr11:2884670 [GRCh38]
Chr11:2905900 [GRCh37]
Chr11:11p15.4
pathogenic
NM_001122630.2(CDKN1C):c.799A>G (p.Lys267Glu) single nucleotide variant Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies [RCV000029187] Chr11:2884123 [GRCh38]
Chr11:2905353 [GRCh37]
Chr11:11p15.4
pathogenic
NM_001122630.2(CDKN1C):c.106C>T (p.Gln36Ter) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000009287] Chr11:2885351 [GRCh38]
Chr11:2906581 [GRCh37]
Chr11:11p15.4
pathogenic
CDKN1C, 1-BP DEL/2-BP INS, 1086T-AG indel Beckwith-Wiedemann syndrome [RCV000009288] Chr11:11p15.5 pathogenic
NM_001122630.2(CDKN1C):c.277_278delinsG (p.Leu93fs) indel Beckwith-Wiedemann syndrome [RCV000009289] Chr11:2885179..2885180 [GRCh38]
Chr11:2906409..2906410 [GRCh37]
Chr11:11p15.4
pathogenic
NM_001122630.2(CDKN1C):c.707C>A (p.Ser236Ter) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000009290] Chr11:2884750 [GRCh38]
Chr11:2905980 [GRCh37]
Chr11:11p15.4
pathogenic
NM_001122630.2(CDKN1C):c.812C>G (p.Ser271Ter) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000009291]|not provided [RCV000521869] Chr11:2884110 [GRCh38]
Chr11:2905340 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_001122630.2(CDKN1C):c.812C>A (p.Ser271Ter) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000009292] Chr11:2884110 [GRCh38]
Chr11:2905340 [GRCh37]
Chr11:11p15.4
pathogenic
NM_001122630.2(CDKN1C):c.156_157insTTCCAGCTGG (p.Asp53fs) insertion Beckwith-Wiedemann syndrome [RCV000628545] Chr11:2885300..2885301 [GRCh38]
Chr11:2906530..2906531 [GRCh37]
Chr11:11p15.4
pathogenic
NM_001122630.2(CDKN1C):c.319C>G (p.Pro107Ala) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000628546] Chr11:2885138 [GRCh38]
Chr11:2906368 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.506C>T (p.Pro169Leu) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000628561] Chr11:2884951 [GRCh38]
Chr11:2906181 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.58C>A (p.Arg20Ser) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000628566] Chr11:2885399 [GRCh38]
Chr11:2906629 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.546T>C (p.Ala182=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000628576] Chr11:2884911 [GRCh38]
Chr11:2906141 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.303G>C (p.Ala101=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000628588] Chr11:2885154 [GRCh38]
Chr11:2906384 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.493_494delinsCT (p.Ala165Leu) indel Beckwith-Wiedemann syndrome [RCV000628593] Chr11:2884963..2884964 [GRCh38]
Chr11:2906193..2906194 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.573_578GGCCCC[8] (p.186_187AP[14]) indel Beckwith-Wiedemann syndrome [RCV000628599] Chr11:2884860..2884861 [GRCh38]
Chr11:2906090..2906091 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.651G>T (p.Ala217=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000628600] Chr11:2884806 [GRCh38]
Chr11:2906036 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.225G>C (p.Ser75=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000628611] Chr11:2885232 [GRCh38]
Chr11:2906462 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.868G>T (p.Ala290Ser) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000552686] Chr11:2884054 [GRCh38]
Chr11:2905284 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.730G>A (p.Ala244Thr) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000527953] Chr11:2884727 [GRCh38]
Chr11:2905957 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.-10-12G>C single nucleotide variant Beckwith-Wiedemann syndrome [RCV000551086] Chr11:2885478 [GRCh38]
Chr11:2906708 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.333C>A (p.Ala111=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000542553] Chr11:2885124 [GRCh38]
Chr11:2906354 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.549A>G (p.Pro183=) single nucleotide variant not provided [RCV000526906] Chr11:2884908 [GRCh38]
Chr11:2906138 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.322C>T (p.Leu108Phe) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000529970] Chr11:2885135 [GRCh38]
Chr11:2906365 [GRCh37]
Chr11:11p15.4
uncertain significance
GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3 copy number gain See cases [RCV000050947] Chr11:196966..3377077 [GRCh38]
Chr11:196966..3398307 [GRCh37]
Chr11:186966..3354883 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3 copy number gain See cases [RCV000050927] Chr11:196966..4435344 [GRCh38]
Chr11:196966..4456574 [GRCh37]
Chr11:186966..4413150 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
NM_001122630.2(CDKN1C):c.495G>C (p.Ala165=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000230817]|not specified [RCV000173059] Chr11:2884962 [GRCh38]
Chr11:2906192 [GRCh37]
Chr11:11p15.4
benign|likely benign|conflicting interpretations of pathogenicity
NM_001122630.2(CDKN1C):c.455_466CTCCGGTCGCGG[2] (p.152_155APVA[2]) microsatellite Beckwith-Wiedemann syndrome [RCV000232580]|not specified [RCV000173060] Chr11:2884967..2884978 [GRCh38]
Chr11:2906197..2906208 [GRCh37]
Chr11:11p15.4
benign
GRCh38/hg38 11p15.5-15.4(chr11:2521466-2891378)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051694]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051694]|See cases [RCV000051694] Chr11:2521466..2891378 [GRCh38]
Chr11:2542696..2912608 [GRCh37]
Chr11:2499272..2869184 [NCBI36]
Chr11:11p15.5-15.4
uncertain significance
GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3 copy number gain See cases [RCV000053614] Chr11:218365..3377077 [GRCh38]
Chr11:218365..3398307 [GRCh37]
Chr11:208365..3354883 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196966-3624139)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|See cases [RCV000053592] Chr11:196966..3624139 [GRCh38]
Chr11:196966..3645369 [GRCh37]
Chr11:186966..3601945 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
NM_001122630.2(CDKN1C):c.782T>G (p.Ile261Ser) single nucleotide variant Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies [RCV000119018] Chr11:2884675 [GRCh38]
Chr11:2905905 [GRCh37]
Chr11:11p15.4
pathogenic
NM_001122630.2(CDKN1C):c.431C>T (p.Ala144Val) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001292611] Chr11:2885026 [GRCh38]
Chr11:2906256 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.579G>A (p.Pro193=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001087134]|not provided [RCV000173058] Chr11:2884878 [GRCh38]
Chr11:2906108 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001122630.2(CDKN1C):c.599_604CCCCGG[4] (p.186_187AP[11]) microsatellite Beckwith-Wiedemann syndrome [RCV000172988] Chr11:2884840..2884841 [GRCh38]
Chr11:2906070..2906071 [GRCh37]
Chr11:11p15.4
pathogenic|likely benign|conflicting interpretations of pathogenicity
NM_001122630.2(CDKN1C):c.608_611delinsGGG (p.Pro203fs) indel Beckwith-Wiedemann syndrome [RCV000172987] Chr11:2884846..2884849 [GRCh38]
Chr11:2906076..2906079 [GRCh37]
Chr11:11p15.4
pathogenic
NM_001122630.2(CDKN1C):c.602del (p.Pro201fs) deletion Beckwith-Wiedemann syndrome [RCV000172986] Chr11:2884855 [GRCh38]
Chr11:2906085 [GRCh37]
Chr11:11p15.4
pathogenic
NM_001122630.2(CDKN1C):c.598delinsAA (p.Ala200fs) indel Beckwith-Wiedemann syndrome [RCV000172985] Chr11:2884859 [GRCh38]
Chr11:2906089 [GRCh37]
Chr11:11p15.4
pathogenic
NM_001122630.2(CDKN1C):c.596_597insGCTCCGGCCCC (p.Ala200fs) insertion Beckwith-Wiedemann syndrome [RCV000172984] Chr11:2884860..2884861 [GRCh38]
Chr11:2906090..2906091 [GRCh37]
Chr11:11p15.4
pathogenic
NM_001122630.2(CDKN1C):c.578_602dup (p.Ala202fs) indel Beckwith-Wiedemann syndrome [RCV000172983] Chr11:2884854..2884855 [GRCh38]
Chr11:2906084..2906085 [GRCh37]
Chr11:11p15.4
pathogenic
NM_001122630.2(CDKN1C):c.416del (p.Pro139fs) deletion Beckwith-Wiedemann syndrome [RCV000172982] Chr11:2885041 [GRCh38]
Chr11:2906271 [GRCh37]
Chr11:11p15.4
pathogenic
NM_001122630.2(CDKN1C):c.*5+2T>C single nucleotide variant Beckwith-Wiedemann syndrome [RCV000172924] Chr11:2883997 [GRCh38]
Chr11:2905227 [GRCh37]
Chr11:11p15.4
pathogenic|likely benign
NM_001122630.2(CDKN1C):c.522T>C (p.Ala174=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000628605]|not specified [RCV000145550] Chr11:2884935 [GRCh38]
Chr11:2906165 [GRCh37]
Chr11:11p15.4
benign|likely benign|conflicting interpretations of pathogenicity
NM_001122630.2(CDKN1C):c.675G>A (p.Glu225=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000470337]|not specified [RCV000145551] Chr11:2884782 [GRCh38]
Chr11:2906012 [GRCh37]
Chr11:11p15.4
benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 copy number gain See cases [RCV000133997] Chr11:446754..18904742 [GRCh38]
Chr11:446754..18926289 [GRCh37]
Chr11:436754..18882865 [NCBI36]
Chr11:11p15.5-15.1
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:1975511-2888695)x3 copy number gain See cases [RCV000136112] Chr11:1975511..2888695 [GRCh38]
Chr11:1996741..2909925 [GRCh37]
Chr11:1953317..2866501 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.4(chr11:2883714-2883812)x3 copy number gain See cases [RCV000136139] Chr11:2883714..2883812 [GRCh38]
Chr11:2904944..2905042 [GRCh37]
Chr11:2861520..2861618 [NCBI36]
Chr11:11p15.4
conflicting data from submitters
GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3 copy number gain See cases [RCV000136847] Chr11:1537379..3360769 [GRCh38]
Chr11:1558609..3381999 [GRCh37]
Chr11:1515185..3338575 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:1975511-3624139)x1 copy number loss See cases [RCV000137066] Chr11:1975511..3624139 [GRCh38]
Chr11:1996741..3645369 [GRCh37]
Chr11:1953317..3601945 [NCBI36]
Chr11:11p15.5-15.4
uncertain significance
GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3 copy number gain See cases [RCV000139987] Chr11:61793..10727969 [GRCh38]
Chr11:61793..10749516 [GRCh37]
Chr11:51793..10706092 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1 copy number loss See cases [RCV000142464] Chr11:1132899..3213923 [GRCh38]
Chr11:1126807..3235153 [GRCh37]
Chr11:1116807..3191729 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3 copy number gain See cases [RCV000142890] Chr11:196855..5321874 [GRCh38]
Chr11:196855..5343104 [GRCh37]
Chr11:186855..5299680 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
NM_001122630.2(CDKN1C):c.661C>T (p.Gln221Ter) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000192927] Chr11:2884796 [GRCh38]
Chr11:2906026 [GRCh37]
Chr11:11p15.4
pathogenic
NM_001122630.2(CDKN1C):c.418G>A (p.Val140Ile) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000543063] Chr11:2885039 [GRCh38]
Chr11:2906269 [GRCh37]
Chr11:11p15.4
uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3 copy number gain See cases [RCV000446036] Chr11:193187..5291338 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
NM_001122630.2(CDKN1C):c.599_604CCCCGG[2] (p.186_187AP[9]) microsatellite Beckwith-Wiedemann syndrome [RCV000546782] Chr11:2884841..2884846 [GRCh38]
Chr11:2906071..2906076 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.-132G>A single nucleotide variant Beckwith-Wiedemann syndrome [RCV000229473]|Beckwith-Wiedemann syndrome [RCV000763733] Chr11:2885755 [GRCh38]
Chr11:2906985 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.768G>C (p.Leu256=) single nucleotide variant not provided [RCV000230558] Chr11:2884689 [GRCh38]
Chr11:2905919 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.39A>G (p.Leu13=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000231240] Chr11:2885418 [GRCh38]
Chr11:2906648 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_001122630.2(CDKN1C):c.599_600insACCGGC (p.186_187AP[11]) insertion Beckwith-Wiedemann syndrome [RCV000229661]|not provided [RCV001270080] Chr11:2884857..2884858 [GRCh38]
Chr11:2906087..2906088 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_001122630.2(CDKN1C):c.573_578GGCCCC[2] (p.186_187AP[8]) microsatellite Beckwith-Wiedemann syndrome [RCV000232076]|not specified [RCV000246892] Chr11:2884861..2884872 [GRCh38]
Chr11:2906091..2906102 [GRCh37]
Chr11:11p15.4
benign
NM_001122630.2(CDKN1C):c.587_616del (p.186_187AP[5]) deletion Beckwith-Wiedemann syndrome [RCV000225864] Chr11:2884841..2884870 [GRCh38]
Chr11:2906071..2906100 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.423G>A (p.Pro141=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000225887] Chr11:2885034 [GRCh38]
Chr11:2906264 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.597_602dup (p.186_187AP[11]) duplication Beckwith-Wiedemann syndrome [RCV000226884] Chr11:2884854..2884855 [GRCh38]
Chr11:2906084..2906085 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.679C>T (p.Leu227Phe) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000227356] Chr11:2884778 [GRCh38]
Chr11:2906008 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.525_548del (p.168_169AP[4]) deletion Beckwith-Wiedemann syndrome [RCV000227393]|not provided [RCV001200080] Chr11:2884909..2884932 [GRCh38]
Chr11:2906139..2906162 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.492C>G (p.Val164=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000227481] Chr11:2884965 [GRCh38]
Chr11:2906195 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.737C>G (p.Ala246Gly) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000227798] Chr11:2884720 [GRCh38]
Chr11:2905950 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.567_584del (p.186_187AP[7]) indel Beckwith-Wiedemann syndrome [RCV000228872] Chr11:2884873..2884890 [GRCh38]
Chr11:2906103..2906120 [GRCh37]
Chr11:11p15.4
benign
NM_001122630.2(CDKN1C):c.555G>A (p.Ala185=) single nucleotide variant not provided [RCV000228974] Chr11:2884902 [GRCh38]
Chr11:2906132 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.-10-9C>T single nucleotide variant not provided [RCV000229348] Chr11:2885475 [GRCh38]
Chr11:2906705 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.573_578GGCCCC[3] (p.186_187AP[9]) microsatellite Beckwith-Wiedemann syndrome [RCV000229773]|not provided [RCV000857861]|not specified [RCV000360364] Chr11:2884861..2884866 [GRCh38]
Chr11:2906091..2906096 [GRCh37]
Chr11:11p15.4
benign|likely benign|uncertain significance
NM_001122630.2(CDKN1C):c.461_466del (p.Val154_Ala155del) deletion Beckwith-Wiedemann syndrome [RCV000229801] Chr11:2884991..2884996 [GRCh38]
Chr11:2906221..2906226 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.99C>T (p.Arg33=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000226565]|not specified [RCV000246345] Chr11:2885358 [GRCh38]
Chr11:2906588 [GRCh37]
Chr11:11p15.4
benign
NM_001122630.2(CDKN1C):c.636C>T (p.Ser212=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000233580]|not specified [RCV000593067] Chr11:2884821 [GRCh38]
Chr11:2906051 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_001122630.2(CDKN1C):c.-11+61G>A single nucleotide variant Beckwith-Wiedemann syndrome [RCV000232251]|not provided [RCV000514664] Chr11:2885573 [GRCh38]
Chr11:2906803 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_001122630.2(CDKN1C):c.567_578del (p.186_187AP[8]) indel Beckwith-Wiedemann syndrome [RCV000230610]|not specified [RCV000503434] Chr11:2884879..2884890 [GRCh38]
Chr11:2906109..2906120 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_001122630.2(CDKN1C):c.527_528insCCCGGC (p.168_169AP[9]) insertion Beckwith-Wiedemann syndrome [RCV000231269] Chr11:2884929..2884930 [GRCh38]
Chr11:2906159..2906160 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_001122630.2(CDKN1C):c.567_590del (p.186_187AP[6]) indel Beckwith-Wiedemann syndrome [RCV000231605] Chr11:2884867..2884890 [GRCh38]
Chr11:2906097..2906120 [GRCh37]
Chr11:11p15.4
benign
NM_001122630.2(CDKN1C):c.573_578GGCCCC[5] (p.186_187AP[11]) indel Beckwith-Wiedemann syndrome [RCV001081475]|not provided [RCV000727116]|not specified [RCV000501668] Chr11:2884860..2884861 [GRCh38]
Chr11:2906090..2906091 [GRCh37]
Chr11:11p15.4
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001122630.2(CDKN1C):c.712C>T (p.Arg238Cys) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000232898] Chr11:2884745 [GRCh38]
Chr11:2905975 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.411G>A (p.Pro137=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001083881]|not provided [RCV000595152] Chr11:2885046 [GRCh38]
Chr11:2906276 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001122630.2(CDKN1C):c.57C>T (p.Cys19=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000233921] Chr11:2885400 [GRCh38]
Chr11:2906630 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.504_509CCCGGC[1] (p.168_169AP[6]) microsatellite Beckwith-Wiedemann syndrome [RCV000233619] Chr11:2884936..2884947 [GRCh38]
Chr11:2906166..2906177 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_001122630.2(CDKN1C):c.522_527TCCGGC[2] (p.168_169AP[7]) microsatellite Beckwith-Wiedemann syndrome [RCV001080251]|not provided [RCV000318157] Chr11:2884918..2884923 [GRCh38]
Chr11:2906148..2906153 [GRCh37]
Chr11:11p15.4
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001122630.2(CDKN1C):c.567_578dup (p.186_187AP[12]) indel Beckwith-Wiedemann syndrome [RCV000234533] Chr11:2884878..2884879 [GRCh38]
Chr11:2906108..2906109 [GRCh37]
Chr11:11p15.4
benign
NM_001122630.2(CDKN1C):c.567A>G (p.Pro189=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000226510]|not specified [RCV000242721] Chr11:2884890 [GRCh38]
Chr11:2906120 [GRCh37]
Chr11:11p15.4
benign
NM_001122630.2(CDKN1C):c.382G>A (p.Val128Ile) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000546289] Chr11:2885075 [GRCh38]
Chr11:2906305 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.*5+18dup duplication not specified [RCV000249335] Chr11:2883974..2883975 [GRCh38]
Chr11:2905204..2905205 [GRCh37]
Chr11:11p15.4
benign
NM_001122630.2(CDKN1C):c.-11+60G>A single nucleotide variant not specified [RCV000254328] Chr11:2885574 [GRCh38]
Chr11:2906804 [GRCh37]
Chr11:11p15.4
benign
NM_001122630.2(CDKN1C):c.98G>T (p.Arg33Leu) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000527236] Chr11:2885359 [GRCh38]
Chr11:2906589 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.809G>T (p.Arg270Ile) single nucleotide variant Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies [RCV000240658] Chr11:2884113 [GRCh38]
Chr11:2905343 [GRCh37]
Chr11:11p15.4
pathogenic
NM_001122630.2(CDKN1C):c.534T>C (p.Ala178=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000457659]|not specified [RCV000250742] Chr11:2884923 [GRCh38]
Chr11:2906153 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.788-5C>T single nucleotide variant Beckwith-Wiedemann syndrome [RCV000526112] Chr11:2884139 [GRCh38]
Chr11:2905369 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.7_8insAAGA (p.Arg3fs) insertion not provided [RCV000722767] Chr11:2885449..2885450 [GRCh38]
Chr11:2906679..2906680 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.340T>C (p.Ser114Pro) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000555220] Chr11:2885117 [GRCh38]
Chr11:2906347 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.176C>T (p.Pro59Leu) single nucleotide variant not provided [RCV001269845] Chr11:2885281 [GRCh38]
Chr11:2906511 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_001122630.2(CDKN1C):c.401_402del (p.Ala134fs) deletion not provided [RCV001269818] Chr11:2885055..2885056 [GRCh38]
Chr11:2906285..2906286 [GRCh37]
Chr11:11p15.4
pathogenic
NM_001122630.2(CDKN1C):c.487_492GCGGTC[3] (p.163_164AV[3]) microsatellite Beckwith-Wiedemann syndrome [RCV000550309] Chr11:2884958..2884959 [GRCh38]
Chr11:2906188..2906189 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.414_431del (p.Val140_Pro145del) deletion Beckwith-Wiedemann syndrome [RCV000530458] Chr11:2885026..2885043 [GRCh38]
Chr11:2906256..2906273 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_001122630.2(CDKN1C):c.455_466CTCCGGTCGCGG[1] (p.152_155APVA[1]) microsatellite Beckwith-Wiedemann syndrome [RCV000548979] Chr11:2884967..2884990 [GRCh38]
Chr11:2906197..2906220 [GRCh37]
Chr11:11p15.4
likely benign
Single allele duplication not specified [RCV000595966] Chr11:2906091..2906096 [GRCh37]
Chr11:11p15.4
uncertain significance
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) copy number gain Russell-Silver syndrome [RCV000767567] Chr11:193146..12643136 [GRCh37]
Chr11:11p15.5-15.3
pathogenic
NM_001122630.2(CDKN1C):c.528T>C (p.Ala176=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000527799] Chr11:2884929 [GRCh38]
Chr11:2906159 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.656del (p.Gln219fs) deletion not provided [RCV000593457] Chr11:2884801 [GRCh38]
Chr11:2906031 [GRCh37]
Chr11:11p15.4
pathogenic
NM_001122630.2(CDKN1C):c.390_395CCCGGC[3] (p.131_132PA[3]) microsatellite Beckwith-Wiedemann syndrome [RCV000628533] Chr11:2885055..2885056 [GRCh38]
Chr11:2906285..2906286 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.592G>A (p.Ala198Thr) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000628550] Chr11:2884865 [GRCh38]
Chr11:2906095 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.769T>A (p.Ser257Thr) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000628552] Chr11:2884688 [GRCh38]
Chr11:2905918 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.193C>T (p.Arg65Cys) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000628559] Chr11:2885264 [GRCh38]
Chr11:2906494 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.567_572del (p.186_187AP[9]) deletion Beckwith-Wiedemann syndrome [RCV000628570]|not specified [RCV000732322] Chr11:2884885..2884890 [GRCh38]
Chr11:2906115..2906120 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_001122630.2(CDKN1C):c.787+10G>A single nucleotide variant Beckwith-Wiedemann syndrome [RCV000628594] Chr11:2884660 [GRCh38]
Chr11:2905890 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.564C>T (p.Ala188=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000628598] Chr11:2884893 [GRCh38]
Chr11:2906123 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.525_548dup (p.168_169AP[12]) duplication Beckwith-Wiedemann syndrome [RCV000628601] Chr11:2884908..2884909 [GRCh38]
Chr11:2906138..2906139 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.171C>T (p.Asp57=) single nucleotide variant not provided [RCV000628602] Chr11:2885286 [GRCh38]
Chr11:2906516 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.90G>A (p.Glu30=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000628603] Chr11:2885367 [GRCh38]
Chr11:2906597 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.586G>A (p.Ala196Thr) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000628537] Chr11:2884871 [GRCh38]
Chr11:2906101 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.525G>A (p.Pro175=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000628544] Chr11:2884932 [GRCh38]
Chr11:2906162 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.699G>C (p.Ser233=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000628584] Chr11:2884758 [GRCh38]
Chr11:2905988 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.455_472del (p.Ala152_Pro157del) deletion not provided [RCV000628585] Chr11:2884985..2885002 [GRCh38]
Chr11:2906215..2906232 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.398del (p.Pro133fs) deletion not provided [RCV000594212] Chr11:2885059 [GRCh38]
Chr11:2906289 [GRCh37]
Chr11:11p15.4
pathogenic
NM_001122630.2(CDKN1C):c.551T>C (p.Val184Ala) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000539515]|not provided [RCV000735112] Chr11:2884906 [GRCh38]
Chr11:2906136 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.852T>C (p.Cys284=) single nucleotide variant not provided [RCV000734685] Chr11:2884070 [GRCh38]
Chr11:2905300 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.410C>A (p.Pro137Gln) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000558836] Chr11:2885047 [GRCh38]
Chr11:2906277 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.815C>T (p.Ala272Val) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000538679]|Beckwith-Wiedemann syndrome [RCV000763732] Chr11:2884107 [GRCh38]
Chr11:2905337 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.665_666delinsAG (p.Arg222Gln) indel Beckwith-Wiedemann syndrome [RCV000543609] Chr11:2884791..2884792 [GRCh38]
Chr11:2906021..2906022 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.855C>T (p.Pro285=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000544653] Chr11:2884067 [GRCh38]
Chr11:2905297 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.771C>T (p.Ser257=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000988475] Chr11:2884686 [GRCh38]
Chr11:2905916 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.593_616dup (p.186_187AP[14]) indel Beckwith-Wiedemann syndrome [RCV000553508] Chr11:2884840..2884841 [GRCh38]
Chr11:2906070..2906071 [GRCh37]
Chr11:11p15.4
likely benign
GRCh37/hg19 11p15.5-15.4(chr11:230615-6644927)x3 copy number gain See cases [RCV000449417] Chr11:230615..6644927 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
NM_001122630.2(CDKN1C):c.238T>C (p.Tyr80His) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000449560] Chr11:2885219 [GRCh38]
Chr11:2906449 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.460G>A (p.Val154Ile) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000458924] Chr11:2884997 [GRCh38]
Chr11:2906227 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.567_572dup (p.186_187AP[11]) duplication Beckwith-Wiedemann syndrome [RCV000459061] Chr11:2884884..2884885 [GRCh38]
Chr11:2906114..2906115 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.537G>C (p.Pro179=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000462945] Chr11:2884920 [GRCh38]
Chr11:2906150 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.110C>T (p.Ala37Val) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000474168] Chr11:2885347 [GRCh38]
Chr11:2906577 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.643C>G (p.Gln215Glu) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000474244] Chr11:2884814 [GRCh38]
Chr11:2906044 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_001122630.2(CDKN1C):c.367G>C (p.Glu123Gln) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000471932] Chr11:2885090 [GRCh38]
Chr11:2906320 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.303G>T (p.Ala101=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000472941] Chr11:2885154 [GRCh38]
Chr11:2906384 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.700G>A (p.Gly234Arg) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000459988] Chr11:2884757 [GRCh38]
Chr11:2905987 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.788-5C>G single nucleotide variant Beckwith-Wiedemann syndrome [RCV000463607] Chr11:2884139 [GRCh38]
Chr11:2905369 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.702G>A (p.Gly234=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000467459] Chr11:2884755 [GRCh38]
Chr11:2905985 [GRCh37]
Chr11:11p15.4
benign
NM_001122630.2(CDKN1C):c.573_578GGCCCC[1] (p.186_187AP[7]) microsatellite Beckwith-Wiedemann syndrome [RCV000474890] Chr11:2884861..2884878 [GRCh38]
Chr11:2906091..2906108 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.487_492GCGGTC[1] (p.163_164AV[1]) microsatellite Beckwith-Wiedemann syndrome [RCV000476397] Chr11:2884959..2884964 [GRCh38]
Chr11:2906189..2906194 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.-10-7T>C single nucleotide variant Beckwith-Wiedemann syndrome [RCV000456489] Chr11:2885473 [GRCh38]
Chr11:2906703 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.138C>T (p.Asp46=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000456522] Chr11:2885319 [GRCh38]
Chr11:2906549 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.504_521del (p.168_169AP[5]) deletion Beckwith-Wiedemann syndrome [RCV000467763] Chr11:2884936..2884953 [GRCh38]
Chr11:2906166..2906183 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.873T>C (p.Pro291=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000471371] Chr11:2884049 [GRCh38]
Chr11:2905279 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.853C>T (p.Pro285Ser) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000471520] Chr11:2884069 [GRCh38]
Chr11:2905299 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.496G>A (p.Val166Ile) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000464198] Chr11:2884961 [GRCh38]
Chr11:2906191 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.320C>T (p.Pro107Leu) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000464222]|Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies [RCV000664304] Chr11:2885137 [GRCh38]
Chr11:2906367 [GRCh37]
Chr11:11p15.4
pathogenic|benign|likely benign|uncertain significance
NM_001122630.2(CDKN1C):c.599_604CCCCGG[1] (p.186_187AP[8]) microsatellite Beckwith-Wiedemann syndrome [RCV000464254] Chr11:2884841..2884852 [GRCh38]
Chr11:2906071..2906082 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.413C>T (p.Pro138Leu) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000467968] Chr11:2885044 [GRCh38]
Chr11:2906274 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.611C>A (p.Ala204Asp) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000475530] Chr11:2884846 [GRCh38]
Chr11:2906076 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.500T>C (p.Leu167Pro) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000456909] Chr11:2884957 [GRCh38]
Chr11:2906187 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_001122630.2(CDKN1C):c.828G>A (p.Ser276=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000464414] Chr11:2884094 [GRCh38]
Chr11:2905324 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.567_596del (p.186_187AP[5]) deletion Beckwith-Wiedemann syndrome [RCV000457216] Chr11:2884861..2884890 [GRCh38]
Chr11:2906091..2906120 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.510_527del (p.168_169AP[5]) deletion Beckwith-Wiedemann syndrome [RCV000460811] Chr11:2884930..2884947 [GRCh38]
Chr11:2906160..2906177 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.422_427del (p.139_140PV[1]) deletion Beckwith-Wiedemann syndrome [RCV000468385] Chr11:2885030..2885035 [GRCh38]
Chr11:2906260..2906265 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.504_509CCCGGC[4] (p.168_169AP[9]) microsatellite Beckwith-Wiedemann syndrome [RCV000472078] Chr11:2884935..2884936 [GRCh38]
Chr11:2906165..2906166 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.504_509CCCGGC[2] (p.168_169AP[7]) microsatellite Beckwith-Wiedemann syndrome [RCV000472207]|not specified [RCV000604880] Chr11:2884936..2884941 [GRCh38]
Chr11:2906166..2906171 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_001122630.2(CDKN1C):c.537_548dup (p.168_169AP[10]) duplication Beckwith-Wiedemann syndrome [RCV000476026] Chr11:2884908..2884909 [GRCh38]
Chr11:2906138..2906139 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_001122630.2(CDKN1C):c.291C>T (p.Pro97=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000461118] Chr11:2885166 [GRCh38]
Chr11:2906396 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_001122630.2(CDKN1C):c.885G>C (p.Ser295=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000468696] Chr11:2884037 [GRCh38]
Chr11:2905267 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.594C>T (p.Ala198=) single nucleotide variant not provided [RCV000472373] Chr11:2884863 [GRCh38]
Chr11:2906093 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.707C>T (p.Ser236Leu) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000476304] Chr11:2884750 [GRCh38]
Chr11:2905980 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.324C>T (p.Leu108=) single nucleotide variant not provided [RCV000476455] Chr11:2885133 [GRCh38]
Chr11:2906363 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.538G>T (p.Ala180Ser) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000457773] Chr11:2884919 [GRCh38]
Chr11:2906149 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.831G>A (p.Ser277=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000457797] Chr11:2884091 [GRCh38]
Chr11:2905321 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.787+1G>A single nucleotide variant Beckwith-Wiedemann syndrome [RCV000554484] Chr11:2884669 [GRCh38]
Chr11:2905899 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.-10-5C>T single nucleotide variant Beckwith-Wiedemann syndrome [RCV000469288] Chr11:2885471 [GRCh38]
Chr11:2906701 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.317C>G (p.Pro106Arg) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000553814] Chr11:2885140 [GRCh38]
Chr11:2906370 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.598G>A (p.Ala200Thr) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000462042] Chr11:2884859 [GRCh38]
Chr11:2906089 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.185G>A (p.Gly62Asp) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000465999] Chr11:2885272 [GRCh38]
Chr11:2906502 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.-1G>T single nucleotide variant Beckwith-Wiedemann syndrome [RCV000469565] Chr11:2885457 [GRCh38]
Chr11:2906687 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.585G>A (p.Pro195=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000473339] Chr11:2884872 [GRCh38]
Chr11:2906102 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.555_560GGCCCC[3] (p.186_187AP[11]) indel Beckwith-Wiedemann syndrome [RCV000458502] Chr11:2884890..2884891 [GRCh38]
Chr11:2906120..2906121 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.108G>A (p.Gln36=) single nucleotide variant not provided [RCV000462428] Chr11:2885349 [GRCh38]
Chr11:2906579 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.637G>A (p.Ala213Thr) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000462429] Chr11:2884820 [GRCh38]
Chr11:2906050 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_001122630.2(CDKN1C):c.479_496del (p.Ala160_Ala165del) deletion Beckwith-Wiedemann syndrome [RCV000466189] Chr11:2884961..2884978 [GRCh38]
Chr11:2906191..2906208 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.597_614del (p.186_187AP[7]) deletion Beckwith-Wiedemann syndrome [RCV000462551] Chr11:2884843..2884860 [GRCh38]
Chr11:2906073..2906090 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.213G>A (p.Val71=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000477522] Chr11:2885244 [GRCh38]
Chr11:2906474 [GRCh37]
Chr11:11p15.4
likely benign
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_001122630.2(CDKN1C):c.828G>C (p.Ser276=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000555848] Chr11:2884094 [GRCh38]
Chr11:2905324 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.786C>T (p.Ser262=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000541882] Chr11:2884671 [GRCh38]
Chr11:2905901 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.676C>T (p.Pro226Ser) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000560692] Chr11:2884781 [GRCh38]
Chr11:2906011 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.510_533del (p.168_169AP[4]) deletion Beckwith-Wiedemann syndrome [RCV000534471] Chr11:2884924..2884947 [GRCh38]
Chr11:2906154..2906177 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.458C>T (p.Pro153Leu) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000536339] Chr11:2884999 [GRCh38]
Chr11:2906229 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.316C>T (p.Pro106Ser) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000541194] Chr11:2885141 [GRCh38]
Chr11:2906371 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.450T>A (p.Ala150=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000560169] Chr11:2885007 [GRCh38]
Chr11:2906237 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.455_466CTCCGGTCGCGG[4] (p.152_155APVA[4]) microsatellite Beckwith-Wiedemann syndrome [RCV000537679] Chr11:2884966..2884967 [GRCh38]
Chr11:2906196..2906197 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.405C>G (p.Ser135=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000628596] Chr11:2885052 [GRCh38]
Chr11:2906282 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.351_358del (p.Leu118fs) deletion Beckwith-Wiedemann syndrome [RCV000628538] Chr11:2885099..2885106 [GRCh38]
Chr11:2906329..2906336 [GRCh37]
Chr11:11p15.4
pathogenic
NM_001122630.2(CDKN1C):c.827C>T (p.Ser276Leu) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000628540] Chr11:2884095 [GRCh38]
Chr11:2905325 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.149G>C (p.Trp50Ser) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000628554] Chr11:2885308 [GRCh38]
Chr11:2906538 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.876C>T (p.Gly292=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000628563] Chr11:2884046 [GRCh38]
Chr11:2905276 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.546_581del (p.Val184_Pro195del) deletion Beckwith-Wiedemann syndrome [RCV000628571] Chr11:2884876..2884911 [GRCh38]
Chr11:2906106..2906141 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.587_616dup (p.186_187AP[15]) indel Beckwith-Wiedemann syndrome [RCV000628574] Chr11:2884840..2884841 [GRCh38]
Chr11:2906070..2906071 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.417A>T (p.Pro139=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000628577] Chr11:2885040 [GRCh38]
Chr11:2906270 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.873T>G (p.Pro291=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000628578] Chr11:2884049 [GRCh38]
Chr11:2905279 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.917G>A (p.Ter306=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000628586] Chr11:2884005 [GRCh38]
Chr11:2905235 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.479_484del (p.Ala160_Pro161del) deletion Beckwith-Wiedemann syndrome [RCV000628604] Chr11:2884973..2884978 [GRCh38]
Chr11:2906203..2906208 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.864C>T (p.Ser288=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000628609] Chr11:2884058 [GRCh38]
Chr11:2905288 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.843C>G (p.Pro281=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000532034] Chr11:2884079 [GRCh38]
Chr11:2905309 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.669C>G (p.Gly223=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001083671]|not provided [RCV000728470] Chr11:2884788 [GRCh38]
Chr11:2906018 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001122630.2(CDKN1C):c.522_527TCCGGC[4] (p.168_169AP[9]) microsatellite Beckwith-Wiedemann syndrome [RCV000540442] Chr11:2884917..2884918 [GRCh38]
Chr11:2906147..2906148 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.708G>A (p.Ser236=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000536886] Chr11:2884749 [GRCh38]
Chr11:2905979 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.597_608dup (p.186_187AP[12]) duplication Beckwith-Wiedemann syndrome [RCV000628572] Chr11:2884848..2884849 [GRCh38]
Chr11:2906078..2906079 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.788-8G>T single nucleotide variant Beckwith-Wiedemann syndrome [RCV000628573] Chr11:2884142 [GRCh38]
Chr11:2905372 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.567_590dup (p.186_187AP[14]) indel Beckwith-Wiedemann syndrome [RCV000628608] Chr11:2884866..2884867 [GRCh38]
Chr11:2906096..2906097 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.455_466CTCCGGTCGCGG[5] (p.152_155APVA[5]) microsatellite Beckwith-Wiedemann syndrome [RCV000556973] Chr11:2884966..2884967 [GRCh38]
Chr11:2906196..2906197 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.660G>A (p.Gly220=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000535542] Chr11:2884797 [GRCh38]
Chr11:2906027 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.736G>T (p.Ala246Ser) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000535977] Chr11:2884721 [GRCh38]
Chr11:2905951 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.163del (p.Gln55fs) deletion Beckwith-Wiedemann syndrome [RCV000539829] Chr11:2885294 [GRCh38]
Chr11:2906524 [GRCh37]
Chr11:11p15.4
pathogenic
NM_001122630.2(CDKN1C):c.775C>A (p.Pro259Thr) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000524779] Chr11:2884682 [GRCh38]
Chr11:2905912 [GRCh37]
Chr11:11p15.4
uncertain significance
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 copy number gain See cases [RCV000512225] Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3
pathogenic
NM_001122630.2(CDKN1C):c.-10-13C>T single nucleotide variant Beckwith-Wiedemann syndrome [RCV000628528] Chr11:2885479 [GRCh38]
Chr11:2906709 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.553G>C (p.Ala185Pro) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000628534] Chr11:2884904 [GRCh38]
Chr11:2906134 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.507G>A (p.Pro169=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000628560] Chr11:2884950 [GRCh38]
Chr11:2906180 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.308C>T (p.Ala103Val) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000628567] Chr11:2885149 [GRCh38]
Chr11:2906379 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.816G>A (p.Ala272=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000628569] Chr11:2884106 [GRCh38]
Chr11:2905336 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.354C>T (p.Leu118=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000628579] Chr11:2885103 [GRCh38]
Chr11:2906333 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.546_563del (p.Val184_Pro189del) deletion Beckwith-Wiedemann syndrome [RCV000628582] Chr11:2884894..2884911 [GRCh38]
Chr11:2906124..2906141 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.45C>T (p.Arg15=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000628590] Chr11:2885412 [GRCh38]
Chr11:2906642 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.771C>A (p.Ser257=) single nucleotide variant not provided [RCV000628610] Chr11:2884686 [GRCh38]
Chr11:2905916 [GRCh37]
Chr11:11p15.4
likely benign
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13
pathogenic
NM_001122630.2(CDKN1C):c.524C>T (p.Pro175Leu) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000686502] Chr11:2884933 [GRCh38]
Chr11:2906163 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.614del (p.Pro205fs) deletion Beckwith-Wiedemann syndrome [RCV000685583] Chr11:2884843 [GRCh38]
Chr11:2906073 [GRCh37]
Chr11:11p15.4
pathogenic
NM_001122630.2(CDKN1C):c.-5C>A single nucleotide variant Beckwith-Wiedemann syndrome [RCV000698775] Chr11:2885461 [GRCh38]
Chr11:2906691 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.608C>T (p.Pro203Leu) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000700299] Chr11:2884849 [GRCh38]
Chr11:2906079 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.449_454CTCCGG[3] (p.144_145AP[6]) microsatellite Beckwith-Wiedemann syndrome [RCV000700680] Chr11:2884996..2884997 [GRCh38]
Chr11:2906226..2906227 [GRCh37]
Chr11:11p15.4
uncertain significance
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 copy number gain not provided [RCV000683372] Chr11:230615..17099213 [GRCh37]
Chr11:11p15.5-15.1
pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3 copy number gain not provided [RCV000683369] Chr11:230615..9704511 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
NM_001122630.2(CDKN1C):c.573_574del (p.Ala192fs) deletion not provided [RCV000681670] Chr11:2884883..2884884 [GRCh38]
Chr11:2906113..2906114 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_001122630.2(CDKN1C):c.331G>A (p.Ala111Thr) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000687036] Chr11:2885126 [GRCh38]
Chr11:2906356 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.194G>T (p.Arg65Leu) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000688516] Chr11:2885263 [GRCh38]
Chr11:2906493 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.709G>A (p.Gly237Arg) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000698846] Chr11:2884748 [GRCh38]
Chr11:2905978 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.593C>G (p.Ala198Gly) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000686644] Chr11:2884864 [GRCh38]
Chr11:2906094 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.439C>G (p.Pro147Ala) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000694547] Chr11:2885018 [GRCh38]
Chr11:2906248 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.577C>G (p.Pro193Ala) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000704183] Chr11:2884880 [GRCh38]
Chr11:2906110 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.325G>C (p.Glu109Gln) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000692989] Chr11:2885132 [GRCh38]
Chr11:2906362 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.640G>T (p.Glu214Ter) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000693066] Chr11:2884817 [GRCh38]
Chr11:2906047 [GRCh37]
Chr11:11p15.4
pathogenic
NM_001122630.2(CDKN1C):c.500T>A (p.Leu167Gln) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000690670] Chr11:2884957 [GRCh38]
Chr11:2906187 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.542C>G (p.Pro181Arg) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000693644] Chr11:2884915 [GRCh38]
Chr11:2906145 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.658G>A (p.Gly220Arg) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000693814] Chr11:2884799 [GRCh38]
Chr11:2906029 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.465G>A (p.Ala155=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000694131] Chr11:2884992 [GRCh38]
Chr11:2906222 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.827C>G (p.Ser276Trp) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000691912] Chr11:2884095 [GRCh38]
Chr11:2905325 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.611C>T (p.Ala204Val) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000689223] Chr11:2884846 [GRCh38]
Chr11:2906076 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.442G>A (p.Ala148Thr) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000689463] Chr11:2885015 [GRCh38]
Chr11:2906245 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.341C>A (p.Ser114Tyr) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000706635] Chr11:2885116 [GRCh38]
Chr11:2906346 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.719C>T (p.Ala240Val) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000697477] Chr11:2884738 [GRCh38]
Chr11:2905968 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.377C>T (p.Pro126Leu) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000697489] Chr11:2885080 [GRCh38]
Chr11:2906310 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.804C>T (p.Arg268=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000687724] Chr11:2884118 [GRCh38]
Chr11:2905348 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.17C>T (p.Ala6Val) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000704283] Chr11:2885440 [GRCh38]
Chr11:2906670 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.620C>T (p.Ala207Val) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000687878] Chr11:2884837 [GRCh38]
Chr11:2906067 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.459G>A (p.Pro153=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000704475] Chr11:2884998 [GRCh38]
Chr11:2906228 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.785C>G (p.Ser262Cys) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000690404] Chr11:2884672 [GRCh38]
Chr11:2905902 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.58C>T (p.Arg20Cys) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000702468] Chr11:2885399 [GRCh38]
Chr11:2906629 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.274C>G (p.Leu92Val) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000693618] Chr11:2885183 [GRCh38]
Chr11:2906413 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.355G>A (p.Glu119Lys) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000693640] Chr11:2885102 [GRCh38]
Chr11:2906332 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.461_532del (p.Val154_Pro177del) deletion Beckwith-Wiedemann syndrome [RCV000705049] Chr11:2884925..2884996 [GRCh38]
Chr11:2906155..2906226 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.751G>A (p.Ala251Thr) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000705133] Chr11:2884706 [GRCh38]
Chr11:2905936 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.673G>T (p.Glu225Ter) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000695961] Chr11:2884784 [GRCh38]
Chr11:2906014 [GRCh37]
Chr11:11p15.4
pathogenic
NM_001122630.2(CDKN1C):c.40G>C (p.Val14Leu) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000695916] Chr11:2885417 [GRCh38]
Chr11:2906647 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.443C>A (p.Ala148Asp) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000703082] Chr11:2885014 [GRCh38]
Chr11:2906244 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.509C>T (p.Ala170Val) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000705163] Chr11:2884948 [GRCh38]
Chr11:2906178 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.787+6C>T single nucleotide variant Beckwith-Wiedemann syndrome [RCV000693851] Chr11:2884664 [GRCh38]
Chr11:2905894 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.74C>G (p.Pro25Arg) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000691699]|not provided [RCV000722416] Chr11:2885383 [GRCh38]
Chr11:2906613 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.98G>A (p.Arg33His) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000691794] Chr11:2885359 [GRCh38]
Chr11:2906589 [GRCh37]
Chr11:11p15.4
uncertain significance
NC_000011.10:g.(?_2883979)_(2885755_?)del deletion Beckwith-Wiedemann syndrome [RCV000708423] Chr11:2883979..2885755 [GRCh38]
Chr11:2905209..2906985 [GRCh37]
Chr11:11p15.4
pathogenic
NM_001122630.2(CDKN1C):c.841C>G (p.Pro281Ala) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000703632] Chr11:2884081 [GRCh38]
Chr11:2905311 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.-3A>G single nucleotide variant Beckwith-Wiedemann syndrome [RCV000703792] Chr11:2885459 [GRCh38]
Chr11:2906689 [GRCh37]
Chr11:11p15.4
uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_001122630.2(CDKN1C):c.207C>T (p.Thr69=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000872343] Chr11:2885250 [GRCh38]
Chr11:2906480 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.558C>T (p.Ala186=) single nucleotide variant not provided [RCV000872855] Chr11:2884899 [GRCh38]
Chr11:2906129 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.105G>A (p.Leu35=) single nucleotide variant not provided [RCV000869798] Chr11:2885352 [GRCh38]
Chr11:2906582 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.16G>C (p.Ala6Pro) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001043134] Chr11:2885441 [GRCh38]
Chr11:2906671 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.832G>A (p.Gly278Ser) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001043022] Chr11:2884090 [GRCh38]
Chr11:2905320 [GRCh37]
Chr11:11p15.4
uncertain significance
NC_000011.10:g.(?_2883979)_(2885755_?)dup duplication Beckwith-Wiedemann syndrome [RCV001032039] Chr11:2905209..2906985 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.430G>C (p.Ala144Pro) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001045562] Chr11:2885027 [GRCh38]
Chr11:2906257 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.597_602del (p.186_187AP[9]) deletion Beckwith-Wiedemann syndrome [RCV000882460] Chr11:2884855..2884860 [GRCh38]
Chr11:2906085..2906090 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.271C>T (p.Leu91=) single nucleotide variant not provided [RCV000982068] Chr11:2885186 [GRCh38]
Chr11:2906416 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.573_578GGCCCC[6] (p.186_187AP[12]) microsatellite Beckwith-Wiedemann syndrome [RCV000869422] Chr11:2884860..2884861 [GRCh38]
Chr11:2906090..2906091 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.765G>A (p.Lys255=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000928179] Chr11:2884692 [GRCh38]
Chr11:2905922 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.582C>T (p.Ala194=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000864965] Chr11:2884875 [GRCh38]
Chr11:2906105 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.252G>A (p.Val84=) single nucleotide variant not provided [RCV000944093] Chr11:2885205 [GRCh38]
Chr11:2906435 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.510C>T (p.Ala170=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000877743] Chr11:2884947 [GRCh38]
Chr11:2906177 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.480T>C (p.Ala160=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000867722] Chr11:2884977 [GRCh38]
Chr11:2906207 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.270C>T (p.Arg90=) single nucleotide variant not provided [RCV000966646] Chr11:2885187 [GRCh38]
Chr11:2906417 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.438_449del (p.144_145AP[3]) deletion Beckwith-Wiedemann syndrome [RCV000881228] Chr11:2885008..2885019 [GRCh38]
Chr11:2906238..2906249 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.552C>T (p.Val184=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000924367] Chr11:2884905 [GRCh38]
Chr11:2906135 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.546_569del (p.Val184_Pro191del) deletion Beckwith-Wiedemann syndrome [RCV000875935] Chr11:2884888..2884911 [GRCh38]
Chr11:2906118..2906141 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.-10-15C>T single nucleotide variant Beckwith-Wiedemann syndrome [RCV000976844] Chr11:2885481 [GRCh38]
Chr11:2906711 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.748G>A (p.Gly250Ser) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001062416] Chr11:2884709 [GRCh38]
Chr11:2905939 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.529C>A (p.Pro177Thr) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001058659] Chr11:2884928 [GRCh38]
Chr11:2906158 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.295_296delinsTT (p.Ala99Leu) indel Beckwith-Wiedemann syndrome [RCV001035385] Chr11:2885161..2885162 [GRCh38]
Chr11:2906391..2906392 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.508G>A (p.Ala170Thr) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001053343] Chr11:2884949 [GRCh38]
Chr11:2906179 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.130G>T (p.Ala44Ser) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001048022] Chr11:2885327 [GRCh38]
Chr11:2906557 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.356A>T (p.Glu119Val) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001071714] Chr11:2885101 [GRCh38]
Chr11:2906331 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.140A>G (p.Gln47Arg) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001071852] Chr11:2885317 [GRCh38]
Chr11:2906547 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.425_442dup (p.Val142_Pro147dup) duplication Beckwith-Wiedemann syndrome [RCV001052754] Chr11:2885014..2885015 [GRCh38]
Chr11:2906244..2906245 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.796G>C (p.Ala266Pro) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000807314] Chr11:2884126 [GRCh38]
Chr11:2905356 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.574_575insACCCGG (p.Ala192_Pro193insAspPro) insertion not provided [RCV000918045] Chr11:2884882..2884883 [GRCh38]
Chr11:2906112..2906113 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.900G>A (p.Pro300=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000876278] Chr11:2884022 [GRCh38]
Chr11:2905252 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.66C>T (p.Leu22=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000873484] Chr11:2885391 [GRCh38]
Chr11:2906621 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.84C>T (p.His28=) single nucleotide variant not provided [RCV000908343] Chr11:2885373 [GRCh38]
Chr11:2906603 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.522_526del (p.Pro175fs) deletion not provided [RCV000908537] Chr11:2884931..2884935 [GRCh38]
Chr11:2906161..2906165 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.24G>A (p.Gly8=) single nucleotide variant not provided [RCV000982522] Chr11:2885433 [GRCh38]
Chr11:2906663 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.120C>T (p.Ala40=) single nucleotide variant not provided [RCV000919691] Chr11:2885337 [GRCh38]
Chr11:2906567 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.435A>G (p.Pro145=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000960365] Chr11:2885022 [GRCh38]
Chr11:2906252 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.510_533dup (p.168_169AP[12]) duplication not provided [RCV000920282] Chr11:2884923..2884924 [GRCh38]
Chr11:2906153..2906154 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.497T>C (p.Val166Ala) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000892446] Chr11:2884960 [GRCh38]
Chr11:2906190 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.570C>G (p.Ala190=) single nucleotide variant not provided [RCV000915306] Chr11:2884887 [GRCh38]
Chr11:2906117 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.753G>T (p.Ala251=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000874697] Chr11:2884704 [GRCh38]
Chr11:2905934 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.177G>T (p.Pro59=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000941149] Chr11:2885280 [GRCh38]
Chr11:2906510 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.387G>C (p.Pro129=) single nucleotide variant not provided [RCV000941169] Chr11:2885070 [GRCh38]
Chr11:2906300 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.744C>T (p.Ala248=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000938975] Chr11:2884713 [GRCh38]
Chr11:2905943 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.312C>A (p.Val104=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000870335] Chr11:2885145 [GRCh38]
Chr11:2906375 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.527_528insCCCGGCCCCGGC (p.168_169AP[10]) insertion Beckwith-Wiedemann syndrome [RCV000892401] Chr11:2884929..2884930 [GRCh38]
Chr11:2906159..2906160 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.395C>T (p.Ala132Val) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000797787] Chr11:2885062 [GRCh38]
Chr11:2906292 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.43C>G (p.Arg15Gly) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000801017] Chr11:2885414 [GRCh38]
Chr11:2906644 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.553_554delinsTT (p.Ala185Leu) indel Beckwith-Wiedemann syndrome [RCV000819282] Chr11:2884903..2884904 [GRCh38]
Chr11:2906133..2906134 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.351C>T (p.Gly117=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000870586] Chr11:2885106 [GRCh38]
Chr11:2906336 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.40G>A (p.Val14Met) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000794106] Chr11:2885417 [GRCh38]
Chr11:2906647 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.814G>C (p.Ala272Pro) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000801322] Chr11:2884108 [GRCh38]
Chr11:2905338 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.453G>A (p.Pro151=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000818053] Chr11:2885004 [GRCh38]
Chr11:2906234 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.412C>T (p.Pro138Ser) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000801628] Chr11:2885045 [GRCh38]
Chr11:2906275 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.28T>C (p.Phe10Leu) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000795848] Chr11:2885429 [GRCh38]
Chr11:2906659 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.742G>T (p.Ala248Ser) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000795044] Chr11:2884715 [GRCh38]
Chr11:2905945 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.475G>A (p.Ala159Thr) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000791877] Chr11:2884982 [GRCh38]
Chr11:2906212 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.365C>T (p.Pro122Leu) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000812897] Chr11:2885092 [GRCh38]
Chr11:2906322 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.560C>G (p.Pro187Arg) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000799170] Chr11:2884897 [GRCh38]
Chr11:2906127 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.112C>A (p.Arg38Ser) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000815671] Chr11:2885345 [GRCh38]
Chr11:2906575 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.865G>T (p.Ala289Ser) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000799545] Chr11:2884057 [GRCh38]
Chr11:2905287 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.354del (p.Glu119fs) deletion Beckwith-Wiedemann syndrome [RCV000800850] Chr11:2885103 [GRCh38]
Chr11:2906333 [GRCh37]
Chr11:11p15.4
pathogenic
NM_001122630.2(CDKN1C):c.626C>T (p.Pro209Leu) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000804738] Chr11:2884831 [GRCh38]
Chr11:2906061 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.317C>T (p.Pro106Leu) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000802531] Chr11:2885140 [GRCh38]
Chr11:2906370 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.11T>C (p.Leu4Pro) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000802750] Chr11:2885446 [GRCh38]
Chr11:2906676 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.-10-20T>G single nucleotide variant Beckwith-Wiedemann syndrome [RCV000806732] Chr11:2885486 [GRCh38]
Chr11:2906716 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.206C>T (p.Thr69Ile) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000806775] Chr11:2885251 [GRCh38]
Chr11:2906481 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.531_548dup (p.168_169AP[11]) duplication Beckwith-Wiedemann syndrome [RCV000875558] Chr11:2884908..2884909 [GRCh38]
Chr11:2906138..2906139 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.578C>G (p.Pro193Arg) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000818092] Chr11:2884879 [GRCh38]
Chr11:2906109 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.230C>T (p.Pro77Leu) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000801854] Chr11:2885227 [GRCh38]
Chr11:2906457 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.334G>T (p.Ala112Ser) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000796104] Chr11:2885123 [GRCh38]
Chr11:2906353 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.440C>T (p.Pro147Leu) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000801963] Chr11:2885017 [GRCh38]
Chr11:2906247 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.262C>T (p.Arg88Cys) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000810553] Chr11:2885195 [GRCh38]
Chr11:2906425 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.506C>G (p.Pro169Arg) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000807423] Chr11:2884951 [GRCh38]
Chr11:2906181 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.139C>G (p.Gln47Glu) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000822330] Chr11:2885318 [GRCh38]
Chr11:2906548 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.775C>T (p.Pro259Ser) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000802968] Chr11:2884682 [GRCh38]
Chr11:2905912 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.669C>T (p.Gly223=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000803005] Chr11:2884788 [GRCh38]
Chr11:2906018 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.788-9C>A single nucleotide variant Beckwith-Wiedemann syndrome [RCV000820278] Chr11:2884143 [GRCh38]
Chr11:2905373 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.539_540insTCCGTC (p.Ala182_Pro183insSerPro) insertion Beckwith-Wiedemann syndrome [RCV000876002] Chr11:2884917..2884918 [GRCh38]
Chr11:2906147..2906148 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.531_548del (p.168_169AP[5]) deletion Beckwith-Wiedemann syndrome [RCV000960741] Chr11:2884909..2884926 [GRCh38]
Chr11:2906139..2906156 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.777T>G (p.Pro259=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000876265] Chr11:2884680 [GRCh38]
Chr11:2905910 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.504C>T (p.Ala168=) single nucleotide variant not provided [RCV000920602] Chr11:2884953 [GRCh38]
Chr11:2906183 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.602C>T (p.Pro201Leu) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000817675] Chr11:2884855 [GRCh38]
Chr11:2906085 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.903C>T (p.Arg301=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001047032] Chr11:2884019 [GRCh38]
Chr11:2905249 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.399G>A (p.Pro133=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001046786] Chr11:2885058 [GRCh38]
Chr11:2906288 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.233C>T (p.Ala78Val) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001213889] Chr11:2885224 [GRCh38]
Chr11:2906454 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.746A>G (p.Asn249Ser) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001045604] Chr11:2884711 [GRCh38]
Chr11:2905941 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.536C>T (p.Pro179Leu) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001213751] Chr11:2884921 [GRCh38]
Chr11:2906151 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.832G>T (p.Gly278Cys) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001209100] Chr11:2884090 [GRCh38]
Chr11:2905320 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.885G>A (p.Ser295=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001203100] Chr11:2884037 [GRCh38]
Chr11:2905267 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.479C>T (p.Ala160Val) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001219830] Chr11:2884978 [GRCh38]
Chr11:2906208 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.417_420del (p.Val140fs) deletion Beckwith-Wiedemann syndrome [RCV001242553] Chr11:2885037..2885040 [GRCh38]
Chr11:2906267..2906270 [GRCh37]
Chr11:11p15.4
pathogenic
NM_001122630.2(CDKN1C):c.872del (p.Pro291fs) deletion Beckwith-Wiedemann syndrome [RCV001237418] Chr11:2884050 [GRCh38]
Chr11:2905280 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_001122630.2(CDKN1C):c.772G>C (p.Gly258Arg) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001224822] Chr11:2884685 [GRCh38]
Chr11:2905915 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.485T>C (p.Val162Ala) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001226993] Chr11:2884972 [GRCh38]
Chr11:2906202 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.372G>T (p.Gln124His) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001227471] Chr11:2885085 [GRCh38]
Chr11:2906315 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.625C>A (p.Pro209Thr) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001232104] Chr11:2884832 [GRCh38]
Chr11:2906062 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.655C>T (p.Gln219Ter) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001218456] Chr11:2884802 [GRCh38]
Chr11:2906032 [GRCh37]
Chr11:11p15.4
pathogenic
NM_001122630.2(CDKN1C):c.152_160del (p.Asp51_Phe54delinsVal) deletion Beckwith-Wiedemann syndrome [RCV001218491] Chr11:2885297..2885305 [GRCh38]
Chr11:2906527..2906535 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.67_68insGAG (p.Phe23Ter) insertion Beckwith-Wiedemann syndrome [RCV001241760] Chr11:2885389..2885390 [GRCh38]
Chr11:2906619..2906620 [GRCh37]
Chr11:11p15.4
pathogenic
NM_001122630.2(CDKN1C):c.436G>C (p.Ala146Pro) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001224724] Chr11:2885021 [GRCh38]
Chr11:2906251 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.908G>A (p.Arg303Lys) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001230886] Chr11:2884014 [GRCh38]
Chr11:2905244 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.223T>G (p.Ser75Ala) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001248015] Chr11:2885234 [GRCh38]
Chr11:2906464 [GRCh37]
Chr11:11p15.4
uncertain significance
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13
pathogenic
NC_000011.9:g.(?_532616)_(2906985_?)dup duplication Neuronal ceroid lipofuscinosis [RCV001032557] Chr11:532616..2906985 [GRCh37]
Chr11:11p15.5-15.4
uncertain significance
NM_001122630.2(CDKN1C):c.579G>C (p.Pro193=) single nucleotide variant not provided [RCV000873893] Chr11:2884878 [GRCh38]
Chr11:2906108 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.843C>T (p.Pro281=) single nucleotide variant not provided [RCV000933089] Chr11:2884079 [GRCh38]
Chr11:2905309 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.519_566del (p.Val184_Pro199del) deletion not provided [RCV000930949] Chr11:2884891..2884938 [GRCh38]
Chr11:2906121..2906168 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.408C>T (p.Thr136=) single nucleotide variant not provided [RCV000908498] Chr11:2885049 [GRCh38]
Chr11:2906279 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.849G>A (p.Pro283=) single nucleotide variant not provided [RCV000931044] Chr11:2884073 [GRCh38]
Chr11:2905303 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.528del (p.Pro177fs) deletion not provided [RCV000908536] Chr11:2884929 [GRCh38]
Chr11:2906159 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.219C>T (p.Ser73=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000932626] Chr11:2885238 [GRCh38]
Chr11:2906468 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.888G>T (p.Val296=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000952440] Chr11:2884034 [GRCh38]
Chr11:2905264 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.521_522insCCCGGCTCCGGC (p.168_169AP[10]) insertion not provided [RCV000892402] Chr11:2884935..2884936 [GRCh38]
Chr11:2906165..2906166 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.570C>T (p.Ala190=) single nucleotide variant not provided [RCV000923735] Chr11:2884887 [GRCh38]
Chr11:2906117 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.588C>T (p.Ala196=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000887560] Chr11:2884869 [GRCh38]
Chr11:2906099 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.597_608del (p.186_187AP[8]) deletion Beckwith-Wiedemann syndrome [RCV000863584] Chr11:2884849..2884860 [GRCh38]
Chr11:2906079..2906090 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.528_533CCCGGC[3] (p.168_169AP[11]) microsatellite not provided [RCV000932052] Chr11:2884929..2884930 [GRCh38]
Chr11:2906159..2906160 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.69C>T (p.Phe23=) single nucleotide variant not provided [RCV000895117] Chr11:2885388 [GRCh38]
Chr11:2906618 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.756G>C (p.Ala252=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000952641] Chr11:2884701 [GRCh38]
Chr11:2905931 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.480T>G (p.Ala160=) single nucleotide variant not provided [RCV000864255] Chr11:2884977 [GRCh38]
Chr11:2906207 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.444C>A (p.Ala148=) single nucleotide variant not provided [RCV000868425] Chr11:2885013 [GRCh38]
Chr11:2906243 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.398C>T (p.Pro133Leu) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001231673] Chr11:2885059 [GRCh38]
Chr11:2906289 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.358G>A (p.Glu120Lys) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001049592] Chr11:2885099 [GRCh38]
Chr11:2906329 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.283_300delinsG (p.Pro95fs) indel Beckwith-Wiedemann syndrome [RCV001242623] Chr11:2885157..2885174 [GRCh38]
Chr11:2906387..2906404 [GRCh37]
Chr11:11p15.4
pathogenic
NM_001122630.2(CDKN1C):c.287G>A (p.Arg96Gln) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001239567] Chr11:2885170 [GRCh38]
Chr11:2906400 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.530C>T (p.Pro177Leu) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001223013] Chr11:2884927 [GRCh38]
Chr11:2906157 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.85G>T (p.Glu29Ter) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001219770] Chr11:2885372 [GRCh38]
Chr11:2906602 [GRCh37]
Chr11:11p15.4
pathogenic
NM_001122630.2(CDKN1C):c.771_786del (p.Gly258fs) deletion Beckwith-Wiedemann syndrome [RCV001051378] Chr11:2884671..2884686 [GRCh38]
Chr11:2905901..2905916 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_001122630.2(CDKN1C):c.-10-23A>G single nucleotide variant Beckwith-Wiedemann syndrome [RCV001209081] Chr11:2885489 [GRCh38]
Chr11:2906719 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.597C>A (p.Pro199=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001224119] Chr11:2884860 [GRCh38]
Chr11:2906090 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.509C>A (p.Ala170Asp) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001043363] Chr11:2884948 [GRCh38]
Chr11:2906178 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.241C>A (p.Arg81Ser) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001246642] Chr11:2885216 [GRCh38]
Chr11:2906446 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.142A>G (p.Asn48Asp) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001206657] Chr11:2885315 [GRCh38]
Chr11:2906545 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.278_279insAGCA (p.Pro95fs) insertion Beckwith-Wiedemann syndrome [RCV001067897] Chr11:2885178..2885179 [GRCh38]
Chr11:2906408..2906409 [GRCh37]
Chr11:11p15.4
pathogenic
NM_001122630.2(CDKN1C):c.855C>G (p.Pro285=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000913813] Chr11:2884067 [GRCh38]
Chr11:2905297 [GRCh37]
Chr11:11p15.4
likely benign
NM_001122630.2(CDKN1C):c.112C>T (p.Arg38Cys) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001068850] Chr11:2885345 [GRCh38]
Chr11:2906575 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.47C>T (p.Thr16Ile) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001046408] Chr11:2885410 [GRCh38]
Chr11:2906640 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.761A>G (p.Lys254Arg) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001071775] Chr11:2884696 [GRCh38]
Chr11:2905926 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.97C>T (p.Arg33Cys) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001047905] Chr11:2885360 [GRCh38]
Chr11:2906590 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.720G>A (p.Ala240=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001067362] Chr11:2884737 [GRCh38]
Chr11:2905967 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.284C>T (p.Pro95Leu) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001211715] Chr11:2885173 [GRCh38]
Chr11:2906403 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.451C>T (p.Pro151Ser) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001202915] Chr11:2885006 [GRCh38]
Chr11:2906236 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.182G>A (p.Arg61Gln) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001038380] Chr11:2885275 [GRCh38]
Chr11:2906505 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.92T>C (p.Leu31Pro) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001059990] Chr11:2885365 [GRCh38]
Chr11:2906595 [GRCh37]
Chr11:11p15.4
pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:2683937-3207439)x3 copy number gain not provided [RCV001006375] Chr11:2683937..3207439 [GRCh37]
Chr11:11p15.5-15.4
uncertain significance
NM_001122630.2(CDKN1C):c.881G>T (p.Gly294Val) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001204799] Chr11:2884041 [GRCh38]
Chr11:2905271 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.443C>T (p.Ala148Val) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001218700] Chr11:2885014 [GRCh38]
Chr11:2906244 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.503C>T (p.Ala168Val) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001035914] Chr11:2884954 [GRCh38]
Chr11:2906184 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.49A>G (p.Ser17Gly) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001042360] Chr11:2885408 [GRCh38]
Chr11:2906638 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.452C>T (p.Pro151Leu) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001052899] Chr11:2885005 [GRCh38]
Chr11:2906235 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.457C>G (p.Pro153Ala) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001061109] Chr11:2885000 [GRCh38]
Chr11:2906230 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.422C>T (p.Pro141Leu) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001236026] Chr11:2885035 [GRCh38]
Chr11:2906265 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.283C>T (p.Pro95Ser) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001207805] Chr11:2885174 [GRCh38]
Chr11:2906404 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.298G>C (p.Val100Leu) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001207823] Chr11:2885159 [GRCh38]
Chr11:2906389 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.677C>T (p.Pro226Leu) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001207825] Chr11:2884780 [GRCh38]
Chr11:2906010 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.653A>C (p.Asn218Thr) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001051796] Chr11:2884804 [GRCh38]
Chr11:2906034 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.355G>T (p.Glu119Ter) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001054384] Chr11:2885102 [GRCh38]
Chr11:2906332 [GRCh37]
Chr11:11p15.4
pathogenic
NM_001122630.2(CDKN1C):c.361G>A (p.Ala121Thr) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001206181] Chr11:2885096 [GRCh38]
Chr11:2906326 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.425T>C (p.Val142Ala) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001235201] Chr11:2885032 [GRCh38]
Chr11:2906262 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.544G>T (p.Ala182Ser) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001235405] Chr11:2884913 [GRCh38]
Chr11:2906143 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.442G>C (p.Ala148Pro) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001229174] Chr11:2885015 [GRCh38]
Chr11:2906245 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.543_566dup (p.Val184_Pro191dup) duplication Beckwith-Wiedemann syndrome [RCV001228524] Chr11:2884890..2884891 [GRCh38]
Chr11:2906120..2906121 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.343C>T (p.Leu115Phe) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001228691] Chr11:2885114 [GRCh38]
Chr11:2906344 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.853C>G (p.Pro285Ala) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001059387] Chr11:2884069 [GRCh38]
Chr11:2905299 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.100G>A (p.Glu34Lys) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001090131] Chr11:2885357 [GRCh38]
Chr11:2906587 [GRCh37]
Chr11:11p15.4
likely pathogenic|conflicting interpretations of pathogenicity
NM_001122630.2(CDKN1C):c.615G>A (p.Pro205=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001203411] Chr11:2884842 [GRCh38]
Chr11:2906072 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.79G>A (p.Asp27Asn) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001053990] Chr11:2885378 [GRCh38]
Chr11:2906608 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.208G>C (p.Glu70Gln) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001212283] Chr11:2885249 [GRCh38]
Chr11:2906479 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.184G>A (p.Gly62Ser) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001211349] Chr11:2885273 [GRCh38]
Chr11:2906503 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.796G>T (p.Ala266Ser) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001064585] Chr11:2884126 [GRCh38]
Chr11:2905356 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.385C>T (p.Pro129Ser) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001229999] Chr11:2885072 [GRCh38]
Chr11:2906302 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.407C>A (p.Thr136Asn) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001229078] Chr11:2885050 [GRCh38]
Chr11:2906280 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.786del (p.Asp263fs) deletion Beckwith-Wiedemann syndrome [RCV001054924] Chr11:2884671 [GRCh38]
Chr11:2905901 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_001122630.2(CDKN1C):c.886G>A (p.Val296Met) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001213057] Chr11:2884036 [GRCh38]
Chr11:2905266 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.599_609del (p.Ala200fs) deletion Beckwith-Wiedemann syndrome [RCV001051697] Chr11:2884848..2884858 [GRCh38]
Chr11:2906078..2906088 [GRCh37]
Chr11:11p15.4
pathogenic
NM_001122630.2(CDKN1C):c.667G>T (p.Gly223Cys) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001047613] Chr11:2884790 [GRCh38]
Chr11:2906020 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.546del (p.Pro183fs) deletion Beckwith-Wiedemann syndrome [RCV001063087] Chr11:2884911 [GRCh38]
Chr11:2906141 [GRCh37]
Chr11:11p15.4
pathogenic
NM_001122630.2(CDKN1C):c.574_598dup (p.Ala200fs) indel Beckwith-Wiedemann syndrome [RCV001215914] Chr11:2884858..2884859 [GRCh38]
Chr11:2906088..2906089 [GRCh37]
Chr11:11p15.4
pathogenic
NM_001122630.2(CDKN1C):c.578C>T (p.Pro193Leu) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001053264] Chr11:2884879 [GRCh38]
Chr11:2906109 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.527C>T (p.Ala176Val) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001063555] Chr11:2884930 [GRCh38]
Chr11:2906160 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001122630.2(CDKN1C):c.74_75del (p.Pro25fs) deletion Beckwith-Wiedemann syndrome [RCV001231053] Chr11:2885382..2885383 [GRCh38]
Chr11:2906612..2906613 [GRCh37]
Chr11:11p15.4
pathogenic
NM_001122630.2(CDKN1C):c.637_652delinsCCC (p.Ala213fs) indel Beckwith-Wiedemann syndrome [RCV001256185] Chr11:2884805..2884820 [GRCh38]
Chr11:2906035..2906050 [GRCh37]
Chr11:11p15.4
pathogenic
NM_001122630.2(CDKN1C):c.788-1G>A single nucleotide variant Inborn genetic diseases [RCV001267225] Chr11:2884135 [GRCh38]
Chr11:2905365 [GRCh37]
Chr11:11p15.4
likely pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3 copy number gain Russell-Silver syndrome [RCV001263222] Chr11:210300..8664358 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
NM_001122630.2(CDKN1C):c.802C>A (p.Arg268Ser) single nucleotide variant not provided [RCV001267958] Chr11:2884120 [GRCh38]
Chr11:2905350 [GRCh37]
Chr11:11p15.4
likely pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3 copy number gain See cases [RCV001263059] Chr11:230615..4851537 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
NM_001122630.2(CDKN1C):c.400_401insA (p.Ala134fs) insertion not provided [RCV001269812] Chr11:2885056..2885057 [GRCh38]
Chr11:2906286..2906287 [GRCh37]
Chr11:11p15.4
pathogenic
NM_001122630.2(CDKN1C):c.334_352del (p.Ala112fs) deletion Beckwith-Wiedemann syndrome [RCV001257502] Chr11:2885105..2885123 [GRCh38]
Chr11:2906335..2906353 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_001122630.2(CDKN1C):c.787+2T>A single nucleotide variant Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies [RCV001270819] Chr11:2884668 [GRCh38]
Chr11:2905898 [GRCh37]
Chr11:11p15.4
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1786 AgrOrtholog
COSMIC CDKN1C COSMIC
Ensembl Genes ENSG00000129757 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000273707 UniProtKB/TrEMBL
Ensembl Protein ENSP00000321019 UniProtKB/TrEMBL
  ENSP00000370101 UniProtKB/TrEMBL
  ENSP00000411257 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000411552 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000413720 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000484462 UniProtKB/TrEMBL
  ENSP00000488761 UniProtKB/TrEMBL
  ENSP00000488786 UniProtKB/TrEMBL
  ENSP00000496631 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000313407 UniProtKB/TrEMBL
  ENST00000380725 UniProtKB/TrEMBL
  ENST00000414822 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000430149 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000440480 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000616138 UniProtKB/TrEMBL
  ENST00000631604 UniProtKB/TrEMBL
  ENST00000633020 UniProtKB/TrEMBL
  ENST00000647251 ENTREZGENE, UniProtKB/TrEMBL
GTEx ENSG00000129757 GTEx
  ENSG00000273707 GTEx
HGNC ID HGNC:1786 ENTREZGENE
Human Proteome Map CDKN1C Human Proteome Map
InterPro CDI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CDKN1C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1028 UniProtKB/Swiss-Prot
NCBI Gene 1028 ENTREZGENE
OMIM 130650 OMIM
  600856 OMIM
  614732 OMIM
PANTHER PTHR10265:SF44 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CDI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26320 PharmGKB
UniProt A0A0G2JH30_HUMAN UniProtKB/TrEMBL
  A0A0G2JPX0_HUMAN UniProtKB/TrEMBL
  A0A2R8YFP9_HUMAN UniProtKB/TrEMBL
  A6NK88_HUMAN UniProtKB/TrEMBL
  B2D1N3_HUMAN UniProtKB/TrEMBL
  CDN1C_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-21 CDKN1C  cyclin dependent kinase inhibitor 1C    cyclin-dependent kinase inhibitor 1C  Symbol and/or name change 5135510 APPROVED
2016-02-29 CDKN1C  cyclin-dependent kinase inhibitor 1C    cyclin-dependent kinase inhibitor 1C (p57, Kip2)  Symbol and/or name change 5135510 APPROVED