LRRC56 (leucine rich repeat containing 56) - Rat Genome Database

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Gene: LRRC56 (leucine rich repeat containing 56) Homo sapiens
Analyze
Symbol: LRRC56
Name: leucine rich repeat containing 56
RGD ID: 1604547
HGNC Page HGNC
Description: Predicted to be involved in cell projection organization. Predicted to localize to cilium. Implicated in primary ciliary dyskinesia 39; INTERACTS WITH acrylamide; aflatoxin B1; arsane.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: CILD39; DKFZp761L1518; DNAAF12; FLJ00101; leucine-rich repeat-containing protein 56
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 Ensembl11537,527 - 554,912 (+)EnsemblGRCh38hg38GRCh38
GRCh3811518,967 - 554,916 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3711537,527 - 554,912 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611527,527 - 544,916 (+)NCBINCBI36hg18NCBI36
Celera11599,982 - 617,257 (+)NCBI
Cytogenetic Map11p15.5NCBI
HuRef11352,197 - 369,600 (+)NCBIHuRef
CHM1_111536,437 - 553,690 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acute myeloid leukemia  (IAGP)
adenoid cystic carcinoma  (IAGP)
adult hepatocellular carcinoma  (IAGP)
B-Cell Chronic Lymphocytic Leukemia  (IAGP)
bladder carcinoma  (IAGP)
bladder urothelial carcinoma  (IAGP)
Breast Neoplasms  (IAGP)
chronic lymphocytic leukemia  (IAGP)
Colorectal Neoplasms  (IAGP)
Congenital Myopathy with Excess of Muscle Spindles  (IAGP)
Costello syndrome  (IAGP)
developmental and epileptic encephalopathy  (IAGP)
disease of cellular proliferation  (IAGP)
early infantile epileptic encephalopathy  (IAGP)
epidermal nevus  (IAGP)
esophageal carcinoma  (IAGP)
Follicular Thyroid Cancer  (IAGP)
gastric adenocarcinoma  (IAGP)
genetic disease  (IAGP)
glioblastoma  (IAGP)
head and neck squamous cell carcinoma  (IAGP)
hepatocellular carcinoma  (IAGP)
Hydrops Fetalis  (IAGP)
intellectual disability  (IAGP)
large congenital melanocytic nevus  (IAGP)
linear nevus sebaceous syndrome  (IAGP)
lung adenocarcinoma  (IAGP)
lung non-small cell carcinoma  (IAGP)
lung squamous cell carcinoma  (IAGP)
melanoma  (IAGP)
multiple myeloma  (IAGP)
myelodysplastic syndrome  (IAGP)
Nasopharyngeal Neoplasms  (IAGP)
neuronal ceroid lipofuscinosis  (IAGP)
Noonan syndrome  (IAGP)
Noonan syndrome 3  (IAGP)
ovarian serous cystadenocarcinoma  (IAGP)
pancreatic adenocarcinoma  (IAGP)
papillary renal cell carcinoma  (IAGP)
Paraproteinemias  (IAGP)
Pigmented Nevus  (IAGP)
plasma cell neoplasm  (IAGP)
plasmacytoma  (IAGP)
primary ciliary dyskinesia 39  (IAGP)
prostate adenocarcinoma  (IAGP)
pulmonary valve stenosis  (IAGP)
RASopathy  (IAGP)
rhabdomyosarcoma  (IAGP)
Sebaceous Nevus Syndrome and Hemimegalencephaly  (IAGP)
skin melanoma  (IAGP)
spermatocytoma  (IAGP)
Sporadic Papillary Renal Cell Carcinoma  (IAGP)
Supravalvar Aortic Stenosis, Eisenberg Type  (IAGP)
supravalvular aortic stenosis  (IAGP)
thymoma  (IAGP)
thyroid gland follicular carcinoma  (IAGP)
Thyroid Neoplasms  (IAGP)
transitional cell carcinoma  (IAGP)
urinary bladder cancer  (IAGP)
Urinary Bladder Neoplasm  (IAGP)
uterine cancer  (IAGP)
uterine carcinosarcoma  (IAGP)
Uterine Cervical Neoplasms  (IAGP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cilium  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal inferior vena cava morphology  (IAGP)
Abnormal sperm motility  (IAGP)
Acute myeloid leukemia  (IAGP)
Airway obstruction  (IAGP)
Anomalous pulmonary venous return  (IAGP)
Asplenia  (IAGP)
Atelectasis  (IAGP)
Atrial situs ambiguous  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bladder carcinoma  (IAGP)
Bladder neoplasm  (IAGP)
Bronchiectasis  (IAGP)
Chronic lung disease  (IAGP)
Chronic lymphatic leukemia  (IAGP)
Chronic otitis media  (IAGP)
Chronic rhinitis  (IAGP)
Chronic sinusitis  (IAGP)
Clubbing  (IAGP)
Conductive hearing impairment  (IAGP)
Congenital giant melanocytic nevus  (IAGP)
Congenital onset  (IAGP)
Cough  (IAGP)
Cutaneous melanoma  (IAGP)
Decreased nasal nitric oxide  (IAGP)
Delayed speech and language development  (IAGP)
Dextrocardia  (IAGP)
Double outlet right ventricle  (IAGP)
Ectopic pregnancy  (IAGP)
Epidermal nevus  (IAGP)
Esophageal carcinoma  (IAGP)
Female infertility  (IAGP)
Follicular thyroid carcinoma  (IAGP)
Glioblastoma multiforme  (IAGP)
Hepatocellular carcinoma  (IAGP)
Hydrocephalus  (IAGP)
Intellectual disability  (IAGP)
Intestinal malrotation  (IAGP)
Linear nevus sebaceous  (IAGP)
Lithoptysis  (IAGP)
Lung adenocarcinoma  (IAGP)
Male infertility  (IAGP)
Melanoma  (IAGP)
Multiple myeloma  (IAGP)
Myelodysplasia  (IAGP)
Nasal congestion  (IAGP)
Nasal polyposis  (IAGP)
Neonatal respiratory distress  (IAGP)
Neoplasia of the nasopharynx  (IAGP)
Neoplasm  (IAGP)
Neoplasm of the breast  (IAGP)
Neoplasm of the large intestine  (IAGP)
Neoplasm of the thyroid gland  (IAGP)
Nevus sebaceous  (IAGP)
Non-small cell lung carcinoma  (IAGP)
Nonimmune hydrops fetalis  (IAGP)
Pancreatic adenocarcinoma  (IAGP)
Peribronchovascular interstitial thickening  (IAGP)
Persistent left superior vena cava  (IAGP)
Polysplenia  (IAGP)
Productive cough  (IAGP)
Pulmonary situs ambiguus  (IAGP)
Pulmonic stenosis  (IAGP)
Recurrent lower respiratory tract infections  (IAGP)
Recurrent mycobacterial infections  (IAGP)
Recurrent otitis media  (IAGP)
Recurrent sinopulmonary infections  (IAGP)
Respiratory failure  (IAGP)
Rhabdomyosarcoma  (IAGP)
Rhinorrhea  (IAGP)
Rod-cone dystrophy  (IAGP)
Situs inversus totalis  (IAGP)
Squamous cell carcinoma of the skin  (IAGP)
Squamous cell lung carcinoma  (IAGP)
Thymoma  (IAGP)
Transitional cell carcinoma of the bladder  (IAGP)
Transposition of the great arteries  (IAGP)
Ventriculomegaly  (IAGP)
Wheezing  (IAGP)
References

Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15489334   PMID:26760575   PMID:28514442   PMID:30388400   PMID:31391242   PMID:32296183   PMID:32814053  


Genomics

Comparative Map Data
LRRC56
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl11537,527 - 554,912 (+)EnsemblGRCh38hg38GRCh38
GRCh3811518,967 - 554,916 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3711537,527 - 554,912 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611527,527 - 544,916 (+)NCBINCBI36hg18NCBI36
Celera11599,982 - 617,257 (+)NCBI
Cytogenetic Map11p15.5NCBI
HuRef11352,197 - 369,600 (+)NCBIHuRef
CHM1_111536,437 - 553,690 (+)NCBICHM1_1
Lrrc56
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397140,774,024 - 140,789,968 (+)NCBIGRCm39mm39
GRCm39 Ensembl7140,774,070 - 140,789,968 (+)Ensembl
GRCm387141,194,111 - 141,210,055 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7141,194,157 - 141,210,055 (+)EnsemblGRCm38mm10GRCm38
MGSCv377148,380,029 - 148,395,954 (+)NCBIGRCm37mm9NCBIm37
MGSCv367141,046,464 - 141,061,375 (+)NCBImm8
Celera7140,988,900 - 141,003,820 (+)NCBICelera
Cytogenetic Map7F5NCBI
Lrrc56
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21196,299,843 - 196,315,170 (+)NCBI
Rnor_6.0 Ensembl1214,182,830 - 214,197,184 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01214,182,232 - 214,197,184 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01221,099,377 - 221,114,723 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41201,390,131 - 201,404,485 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11201,541,130 - 201,555,485 (+)NCBI
Celera1193,934,697 - 193,949,044 (+)NCBICelera
Cytogenetic Map1q41NCBI
Lrrc56
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547611,491,688 - 11,506,700 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495547611,493,299 - 11,507,022 (-)NCBIChiLan1.0ChiLan1.0
LRRC56
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.111571,886 - 588,750 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11575,495 - 588,750 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v011514,227 - 559,838 (+)NCBIMhudiblu_PPA_v0panPan3
LRRC56
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11825,647,024 - 25,662,646 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1825,647,882 - 25,664,220 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1825,295,967 - 25,311,498 (+)NCBI
ROS_Cfam_1.01826,231,280 - 26,246,814 (+)NCBI
UMICH_Zoey_3.11825,741,056 - 25,756,567 (+)NCBI
UNSW_CanFamBas_1.01825,386,038 - 25,401,571 (+)NCBI
UU_Cfam_GSD_1.01825,998,200 - 26,013,733 (+)NCBI
Lrrc56
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947379,529 - 397,647 (+)NCBI
SpeTri2.0NW_004936888379,622 - 397,647 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LRRC56
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2304,429 - 323,700 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12303,836 - 323,701 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22350,721 - 368,934 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LRRC56
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11352,131 - 370,276 (+)NCBI
ChlSab1.1 Ensembl1355,982 - 369,633 (+)Ensembl
Vero_WHO_p1.0NW_02366603897,411,774 - 97,429,686 (+)NCBI
Lrrc56
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476621,895,967 - 21,910,727 (-)NCBI

Position Markers
SHGC-58456  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711554,760 - 554,895UniSTSGRCh37
Build 3611544,760 - 544,895RGDNCBI36
Celera11617,101 - 617,236RGD
Cytogenetic Map11p15.5UniSTS
HuRef11369,444 - 369,579UniSTS
TNG Radiation Hybrid Map11618.0UniSTS
SHGC-146715  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711546,738 - 547,087UniSTSGRCh37
Build 3611536,738 - 537,087RGDNCBI36
Cytogenetic Map11p15.5UniSTS
HuRef11361,414 - 361,763UniSTS
TNG Radiation Hybrid Map11639.0UniSTS
SHGC-146716  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711546,613 - 546,925UniSTSGRCh37
Build 3611536,613 - 536,925RGDNCBI36
Celera11609,073 - 609,385RGD
Cytogenetic Map11p15.5UniSTS
HuRef11361,289 - 361,601UniSTS
TNG Radiation Hybrid Map11639.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:487
Count of miRNA genes:386
Interacting mature miRNAs:424
Transcripts:ENST00000270115
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 59 1 357 7 87 8 34 25 734 21 558 228 17 1
Low 2298 2074 1325 582 1569 423 3975 1458 2946 376 891 1379 172 1196 2438 2 1
Below cutoff 81 909 43 33 289 33 346 709 47 22 7 5 1 1 8 333 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_198075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005252775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005252776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006718132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006718133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC137894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC138374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL831961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP006284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000270115   ⟹   ENSP00000270115
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11537,527 - 554,912 (+)Ensembl
RefSeq Acc Id: NM_198075   ⟹   NP_932341
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811537,527 - 554,912 (+)NCBI
GRCh3711536,722 - 554,916 (+)NCBI
Build 3611527,527 - 544,916 (+)NCBI Archive
Celera11599,982 - 617,257 (+)RGD
HuRef11352,197 - 369,600 (+)RGD
CHM1_111536,437 - 553,690 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005252775   ⟹   XP_005252832
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811536,701 - 554,916 (+)NCBI
GRCh3711536,722 - 554,916 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005252776   ⟹   XP_005252833
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811536,701 - 554,916 (+)NCBI
GRCh3711536,722 - 554,916 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006718132   ⟹   XP_006718195
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811536,701 - 554,916 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006718133   ⟹   XP_006718196
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811539,618 - 554,916 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011519875   ⟹   XP_011518177
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811518,967 - 554,916 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011519876   ⟹   XP_011518178
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811536,701 - 554,916 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011519877   ⟹   XP_011518179
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811518,967 - 554,916 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017017167   ⟹   XP_016872656
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811518,967 - 554,916 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017017168   ⟹   XP_016872657
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811523,936 - 554,916 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_932341   ⟸   NM_198075
- UniProtKB: Q8IYG6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005252832   ⟸   XM_005252775
- Peptide Label: isoform X1
- UniProtKB: Q8IYG6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005252833   ⟸   XM_005252776
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_006718195   ⟸   XM_006718132
- Peptide Label: isoform X1
- UniProtKB: Q8IYG6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006718196   ⟸   XM_006718133
- Peptide Label: isoform X1
- UniProtKB: Q8IYG6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011518177   ⟸   XM_011519875
- Peptide Label: isoform X1
- UniProtKB: Q8IYG6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011518179   ⟸   XM_011519877
- Peptide Label: isoform X1
- UniProtKB: Q8IYG6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011518178   ⟸   XM_011519876
- Peptide Label: isoform X1
- UniProtKB: Q8IYG6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016872656   ⟸   XM_017017167
- Peptide Label: isoform X1
- UniProtKB: Q8IYG6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016872657   ⟸   XM_017017168
- Peptide Label: isoform X1
- UniProtKB: Q8IYG6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000270115   ⟸   ENST00000270115
Protein Domains
LRRCT

Promoters
RGD ID:7219157
Promoter ID:EPDNEW_H15324
Type:initiation region
Name:LRRC56_2
Description:leucine rich repeat containing 56
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15327  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811518,990 - 519,050EPDNEW
RGD ID:6788990
Promoter ID:HG_KWN:11832
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000254969,   OTTHUMT00000259397,   UC001LPW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3611526,731 - 528,077 (-)MPROMDB
RGD ID:7219163
Promoter ID:EPDNEW_H15327
Type:initiation region
Name:LRRC56_1
Description:leucine rich repeat containing 56
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15324  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811537,527 - 537,587EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005343.4(HRAS):c.518C>T (p.Pro173Leu) single nucleotide variant Costello syndrome [RCV000526328]|Intellectual disability [RCV001260727] Chr11:532688 [GRCh38]
Chr11:532688 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.290+9C>T single nucleotide variant Costello syndrome [RCV001425103]|not provided [RCV000546139] Chr11:533757 [GRCh38]
Chr11:533757 [GRCh37]
Chr11:11p15.5
likely benign
NM_198075.4(LRRC56):c.423+1G>A single nucleotide variant Ciliary dyskinesia, primary, 39 [RCV000735803] Chr11:549999 [GRCh38]
Chr11:549999 [GRCh37]
Chr11:11p15.5
pathogenic
NM_198075.4(LRRC56):c.326+1G>A single nucleotide variant Ciliary dyskinesia, primary, 39 [RCV000735806] Chr11:544781 [GRCh38]
Chr11:544781 [GRCh37]
Chr11:11p15.5
pathogenic
NM_005343.4(HRAS):c.441G>A (p.Lys147=) single nucleotide variant not provided [RCV000547691] Chr11:533462 [GRCh38]
Chr11:533462 [GRCh37]
Chr11:11p15.5
likely benign
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
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 11p15.5-15.4(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
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
NM_198075.3(LRRC56):c.1565C>T (p.Pro522Leu) single nucleotide variant Malignant melanoma [RCV000069438] Chr11:554212 [GRCh38]
Chr11:554212 [GRCh37]
Chr11:544212 [NCBI36]
Chr11:11p15.5
not provided
NM_198075.3(LRRC56):c.1376G>A (p.Arg459Gln) single nucleotide variant Malignant melanoma [RCV000062258] Chr11:554023 [GRCh38]
Chr11:554023 [GRCh37]
Chr11:544023 [NCBI36]
Chr11:11p15.5
not provided
NM_198075.4(LRRC56):c.760G>T (p.Glu254Ter) single nucleotide variant Ciliary dyskinesia, primary, 39 [RCV000735805] Chr11:551266 [GRCh38]
Chr11:551266 [GRCh37]
Chr11:11p15.5
pathogenic
NM_005343.4(HRAS):c.44G>A (p.Gly15Asp) single nucleotide variant Vascular Tumors Including Pyogenic Granuloma [RCV000662271] Chr11:534279 [GRCh38]
Chr11:534279 [GRCh37]
Chr11:11p15.5
uncertain significance
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(chr11:61793-10727969)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(chr11:196855-5321874)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
GRCh38/hg38 11p15.5(chr11:196855-2116185)x3 copy number gain See cases [RCV000142923] Chr11:196855..2116185 [GRCh38]
Chr11:196855..2137415 [GRCh37]
Chr11:186855..2093991 [NCBI36]
Chr11:11p15.5
pathogenic
NM_005343.4(HRAS):c.436G>A (p.Ala146Thr) single nucleotide variant Acute myeloid leukemia [RCV000434059]|Adenocarcinoma of stomach [RCV000427320]|Costello syndrome [RCV000013441]|Lung adenocarcinoma [RCV000444836]|Multiple myeloma [RCV000420974]|Neoplasm of the large intestine [RCV000432069]|Neoplasm of uterine cervix [RCV000438623] Chr11:533467 [GRCh38]
Chr11:533467 [GRCh37]
Chr11:11p15.5
pathogenic|likely pathogenic
NM_005343.4(HRAS):c.111+15G>A single nucleotide variant none provided [RCV001286803]|not specified [RCV000038454] Chr11:534197 [GRCh38]
Chr11:534197 [GRCh37]
Chr11:11p15.5
benign
NM_005343.4(HRAS):c.181C>A (p.Gln61Lys) single nucleotide variant Breast neoplasm [RCV000439343]|Lip and oral cavity carcinoma [RCV001255683]|Noonan syndrome 3 [RCV000587258]|Spermatocytic seminoma [RCV000022795]|Thyroid cancer, nonmedullary, 2 [RCV000013434]|not provided [RCV000681435] Chr11:533875 [GRCh38]
Chr11:533875 [GRCh37]
Chr11:11p15.5
pathogenic|likely pathogenic|other
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) single nucleotide variant Acute myeloid leukemia [RCV000422656]|Adenocarcinoma of prostate [RCV000427772]|Adenocarcinoma of stomach [RCV000423310]|Adenoid cystic carcinoma [RCV000440993]|Breast neoplasm [RCV000430608]|Carcinoma of esophagus [RCV000445039]|Costello syndrome [RCV000013435]|Epidermal nevus with urothelial cancer, somatic [RCV000022796]|Glioblastoma [RCV000432984]|Hepatocellular carcinoma [RCV000440237]|Inborn genetic diseases [RCV001267097]|Lip and oral cavity carcinoma [RCV001255689]|Lung adenocarcinoma [RCV000420366]|Malignant melanoma of skin [RCV000419709]|Malignant neoplasm of body of uterus [RCV000430725]|Multiple myeloma [RCV000440297]|Myelodysplastic syndrome [RCV000440863]|Myopathy, congenital, with excess of muscle spindles [RCV000013436]|Nasopharyngeal Neoplasms [RCV000422253]|Neoplasm of the large intestine [RCV000443940]|Neoplasm of the thyroid gland [RCV000425542]|Neoplasm of uterine cervix [RCV000438022]|Nevus sebaceous [RCV000029209]|Nevus, woolly hair [RCV000487471]|Ovarian Serous Cystadenocarcinoma [RCV000430011]|Pancreatic adenocarcinoma [RCV000433576]|Papillary renal cell carcinoma, sporadic [RCV000432342]|Rasopathy [RCV000149828]|Rhabdomyosarcoma (disease) [RCV001257537]|Squamous cell carcinoma of the head and neck [RCV000424896]|Squamous cell carcinoma of the skin [RCV000432945]|Transitional cell carcinoma of the bladder [RCV000435163]|Uterine Carcinosarcoma [RCV000417494]|none provided [RCV001283297]|not provided [RCV000081295] Chr11:534289 [GRCh38]
Chr11:534289 [GRCh37]
Chr11:11p15.5
pathogenic|likely pathogenic|other
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) single nucleotide variant Acute myeloid leukemia [RCV000436832]|Adenocarcinoma of prostate [RCV000433587]|Adenocarcinoma of stomach [RCV000426130]|Adenoid cystic carcinoma [RCV000418547]|Breast neoplasm [RCV000435805]|Carcinoma of esophagus [RCV000423741]|Costello syndrome [RCV000013437]|Glioblastoma [RCV000440663]|Hepatocellular carcinoma [RCV000433266]|Inborn genetic diseases [RCV000623953]|Large congenital melanocytic nevus [RCV000762848]|Lung adenocarcinoma [RCV000445090]|Malignant melanoma of skin [RCV000417508]|Malignant neoplasm of body of uterus [RCV000423413]|Multiple myeloma [RCV000444092]|Myelodysplastic syndrome [RCV000442448]|Nasopharyngeal Neoplasms [RCV000428375]|Neoplasm of the large intestine [RCV000422263]|Neoplasm of the thyroid gland [RCV000428172]|Neoplasm of uterine cervix [RCV000441501]|Ovarian Serous Cystadenocarcinoma [RCV000423622]|Pancreatic adenocarcinoma [RCV000445257]|Papillary renal cell carcinoma, sporadic [RCV000430806]|Rhabdomyosarcoma (disease) [RCV001257536]|Squamous cell carcinoma of the head and neck [RCV000432956]|Squamous cell carcinoma of the skin [RCV000435619]|Transitional cell carcinoma of the bladder [RCV000425989]|Uterine Carcinosarcoma [RCV000425511]|not provided [RCV000207503] Chr11:534288 [GRCh38]
Chr11:534288 [GRCh37]
Chr11:11p15.5
pathogenic|likely pathogenic
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) single nucleotide variant Costello syndrome [RCV000013438]|Neoplasm of the large intestine [RCV000439514]|Non-immune hydrops fetalis [RCV001376018]|Rasopathy [RCV000781469]|not provided [RCV000157913] Chr11:534285 [GRCh38]
Chr11:534285 [GRCh37]
Chr11:11p15.5
pathogenic|not provided
NM_005343.4(HRAS):c.350A>G (p.Lys117Arg) single nucleotide variant Costello syndrome [RCV000013439]|not provided [RCV000353386] Chr11:533553 [GRCh38]
Chr11:533553 [GRCh37]
Chr11:11p15.5
pathogenic
NM_005343.4(HRAS):c.187G>A (p.Glu63Lys) single nucleotide variant Myopathy, congenital, with excess of muscle spindles [RCV000013442]|not provided [RCV000485616] Chr11:533869 [GRCh38]
Chr11:533869 [GRCh37]
Chr11:11p15.5
pathogenic
NM_005343.4(HRAS):c.64C>A (p.Gln22Lys) single nucleotide variant Costello syndrome [RCV000143898]|Myopathy, congenital, with excess of muscle spindles [RCV000013443]|not provided [RCV000157915] Chr11:534259 [GRCh38]
Chr11:534259 [GRCh37]
Chr11:11p15.5
pathogenic|likely pathogenic
NM_005343.4(HRAS):c.173C>T (p.Thr58Ile) single nucleotide variant Costello syndrome [RCV000013444] Chr11:533883 [GRCh38]
Chr11:533883 [GRCh37]
Chr11:11p15.5
pathogenic
NM_005343.4(HRAS):c.437C>T (p.Ala146Val) single nucleotide variant Acute myeloid leukemia [RCV000436710]|Adenocarcinoma of stomach [RCV000427529]|Costello syndrome [RCV000013445]|Lung adenocarcinoma [RCV000444744]|Multiple myeloma [RCV000426668]|Neoplasm of the large intestine [RCV000419902]|Neoplasm of uterine cervix [RCV000436017] Chr11:533466 [GRCh38]
Chr11:533466 [GRCh37]
Chr11:11p15.5
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) single nucleotide variant Breast neoplasm [RCV000429375]|Costello syndrome [RCV000038460]|Costello syndrome, severe [RCV000013446]|Lip and oral cavity carcinoma [RCV001255681]|Nevus sebaceous [RCV000029210]|Non-immune hydrops fetalis [RCV001375956]|Rasopathy [RCV000149830]|not provided [RCV000212496] Chr11:534288 [GRCh38]
Chr11:534288 [GRCh37]
Chr11:11p15.5
pathogenic|likely pathogenic|other
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) single nucleotide variant Acute myeloid leukemia [RCV000424380]|Adenocarcinoma of prostate [RCV000443678]|Adenocarcinoma of stomach [RCV000428012]|Adenoid cystic carcinoma [RCV000443826]|Bladder carcinoma [RCV000440052]|Breast neoplasm [RCV000424087]|Carcinoma of esophagus [RCV000436802]|Costello syndrome [RCV000013447]|Epidermal nevus [RCV000032851]|Glioblastoma [RCV000434677]|Hepatocellular carcinoma [RCV000418395]|Large congenital melanocytic nevus [RCV000762849]|Lung adenocarcinoma [RCV000426992]|Malignant melanoma of skin [RCV000429404]|Malignant neoplasm of body of uterus [RCV000439243]|Multiple myeloma [RCV000436505]|Myelodysplastic syndrome [RCV000419553]|Nasopharyngeal Neoplasms [RCV000431815]|Neoplasm of the large intestine [RCV000421701]|Neoplasm of the thyroid gland [RCV000429096]|Neoplasm of uterine cervix [RCV000438707]|Nevus sebaceous [RCV000029211]|Ovarian Serous Cystadenocarcinoma [RCV000431602]|Pancreatic adenocarcinoma [RCV000444512]|Papillary renal cell carcinoma, sporadic [RCV000427213]|Rasopathy [RCV000149829]|Squamous cell carcinoma of the head and neck [RCV000438902]|Squamous cell carcinoma of the skin [RCV000422023]|Transitional cell carcinoma of the bladder [RCV000445233]|Uterine Carcinosarcoma [RCV000437868]|not provided [RCV000212495] Chr11:534289 [GRCh38]
Chr11:534289 [GRCh37]
Chr11:11p15.5
pathogenic|likely pathogenic|other
NM_005343.4(HRAS):c.110_111+1dup duplication Costello syndrome [RCV000022797] Chr11:534210..534211 [GRCh38]
Chr11:534210..534211 [GRCh37]
Chr11:11p15.5
pathogenic
NM_005343.4(HRAS):c.108_110dup (p.Glu37dup) duplication Costello syndrome [RCV000022798] Chr11:534212..534213 [GRCh38]
Chr11:534212..534213 [GRCh37]
Chr11:11p15.5
pathogenic
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) single nucleotide variant Acute myeloid leukemia [RCV000439826]|Adenocarcinoma of stomach [RCV000424371]|Breast neoplasm [RCV000432361]|Chronic lymphocytic leukemia [RCV000420422]|Epidermal nevus [RCV000032852]|Epidermal nevus syndrome [RCV000029213]|Hepatocellular carcinoma [RCV000430065]|Lip and oral cavity carcinoma [RCV001255682]|Lung adenocarcinoma [RCV000439525]|Malignant melanoma of skin [RCV000430227]|Malignant neoplasm of body of uterus [RCV000422625]|Multiple myeloma [RCV000443949]|NEVUS SPILUS, SOMATIC [RCV000173005]|Neoplasm of the large intestine [RCV000420481]|Neoplasm of the thyroid gland [RCV000418725]|Neoplasm of uterine cervix [RCV000440902]|Nevus sebaceous [RCV000029212]|Non-immune hydrops fetalis [RCV001376004]|Pancreatic adenocarcinoma [RCV000427669]|SPITZ NEVUS, SOMATIC [RCV000173006]|Squamous cell carcinoma of the head and neck [RCV000431824]|Squamous cell carcinoma of the skin [RCV000435072]|Squamous cell lung carcinoma [RCV000419344]|Transitional cell carcinoma of the bladder [RCV000437649] Chr11:534286 [GRCh38]
Chr11:534286 [GRCh37]
Chr11:11p15.5
pathogenic|likely pathogenic|other
NM_005343.4(HRAS):c.35G>T (p.Gly12Val) single nucleotide variant Costello syndrome [RCV000013432]|Epidermal nevus [RCV000032850]|Melanoma [RCV000428111]|Myopathy, congenital, with excess of muscle spindles [RCV000013433]|Neoplasm of the thyroid gland [RCV000438340]|Urinary bladder cancer [RCV000013431]|not provided [RCV000157912] Chr11:534288 [GRCh38]
Chr11:534288 [GRCh37]
Chr11:11p15.5
pathogenic|likely pathogenic|other
NM_005343.4(HRAS):c.249C>T (p.Ala83=) single nucleotide variant Costello syndrome [RCV000531092]|not specified [RCV000038455] Chr11:533807 [GRCh38]
Chr11:533807 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.282C>T (p.His94=) single nucleotide variant not specified [RCV000038456] Chr11:533774 [GRCh38]
Chr11:533774 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.330C>T (p.Pro110=) single nucleotide variant Costello syndrome [RCV000467667]|not specified [RCV000038457] Chr11:533573 [GRCh38]
Chr11:533573 [GRCh37]
Chr11:11p15.5
benign|likely benign|conflicting interpretations of pathogenicity
NM_005343.4(HRAS):c.357C>T (p.Asp119=) single nucleotide variant Costello syndrome [RCV000227939]|Rasopathy [RCV000522686]|not specified [RCV000038458] Chr11:533546 [GRCh38]
Chr11:533546 [GRCh37]
Chr11:11p15.5
benign
NM_005343.4(HRAS):c.358C>T (p.Leu120=) single nucleotide variant Costello syndrome [RCV000457956]|not specified [RCV000038459] Chr11:533545 [GRCh38]
Chr11:533545 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.363T>C (p.Ala121=) single nucleotide variant Costello syndrome [RCV000560800]|not specified [RCV000038461] Chr11:533540 [GRCh38]
Chr11:533540 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.378A>G (p.Glu126=) single nucleotide variant Costello syndrome [RCV001081660]|Rasopathy [RCV000519017]|not provided [RCV000588072]|not specified [RCV000038462] Chr11:533525 [GRCh38]
Chr11:533525 [GRCh37]
Chr11:11p15.5
benign|likely benign
NM_005343.4(HRAS):c.401C>T (p.Ala134Val) single nucleotide variant Costello syndrome [RCV000230783]|not specified [RCV000038463] Chr11:533502 [GRCh38]
Chr11:533502 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.412G>A (p.Gly138Ser) single nucleotide variant Costello syndrome [RCV000548489]|Rasopathy [RCV001030071]|not provided [RCV000681055]|not specified [RCV000038464] Chr11:533491 [GRCh38]
Chr11:533491 [GRCh37]
Chr11:11p15.5
likely benign|uncertain significance
NM_005343.4(HRAS):c.477G>A (p.Leu159=) single nucleotide variant Costello syndrome [RCV000234776]|Rasopathy [RCV000522477]|none provided [RCV001281962]|not specified [RCV000038465] Chr11:532729 [GRCh38]
Chr11:532729 [GRCh37]
Chr11:11p15.5
benign|likely benign|conflicting interpretations of pathogenicity
NM_005343.4(HRAS):c.510G>A (p.Lys170=) single nucleotide variant Costello syndrome [RCV000473658]|Rasopathy [RCV000520548]|not specified [RCV000038466] Chr11:532696 [GRCh38]
Chr11:532696 [GRCh37]
Chr11:11p15.5
benign|likely benign|conflicting interpretations of pathogenicity
NM_005343.4(HRAS):c.520C>T (p.Pro174Ser) single nucleotide variant Costello syndrome [RCV000234040]|Large congenital melanocytic nevus [RCV000755642]|Rasopathy [RCV000520658]|not specified [RCV000038467] Chr11:532686 [GRCh38]
Chr11:532686 [GRCh37]
Chr11:11p15.5
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005343.4(HRAS):c.187_207dup (p.Glu63_Asp69dup) duplication Costello syndrome [RCV000106320] Chr11:533848..533849 [GRCh38]
Chr11:533848..533849 [GRCh37]
Chr11:11p15.5
pathogenic
NM_005343.4(HRAS):c.473C>T (p.Thr158Met) single nucleotide variant Costello syndrome [RCV000813562]|not specified [RCV000121201] Chr11:532733 [GRCh38]
Chr11:532733 [GRCh37]
Chr11:11p15.5
uncertain significance|not provided
NM_005343.4(HRAS):c.-10C>T single nucleotide variant none provided [RCV001282065]|not provided [RCV000509255]|not specified [RCV000154268] Chr11:534332 [GRCh38]
Chr11:534332 [GRCh37]
Chr11:11p15.5
benign|not provided
NM_005343.4(HRAS):c.*1C>T single nucleotide variant not provided [RCV000588758]|not specified [RCV000125382] Chr11:532635 [GRCh38]
Chr11:532635 [GRCh37]
Chr11:11p15.5
benign|likely benign
NM_005343.4(HRAS):c.5+14C>A single nucleotide variant not specified [RCV000125383] Chr11:532617 [GRCh38]
Chr11:532617 [GRCh37]
Chr11:11p15.5
benign
NM_005343.4(HRAS):c.277A>G (p.Ile93Val) single nucleotide variant Costello syndrome [RCV000524082]|Pulmonic stenosis (disease) [RCV000143899]|not provided [RCV000157920] Chr11:533779 [GRCh38]
Chr11:533779 [GRCh37]
Chr11:11p15.5
likely benign|uncertain significance
NM_005343.4(HRAS):c.182A>G (p.Gln61Arg) single nucleotide variant Epidermal nevus syndrome [RCV000148033]|Neoplasm [RCV000437086]|Neoplasm of the thyroid gland [RCV000418550]|Vascular Tumors Including Pyogenic Granuloma [RCV000662268]|not provided [RCV000157918] Chr11:533874 [GRCh38]
Chr11:533874 [GRCh37]
Chr11:11p15.5
pathogenic|likely pathogenic|uncertain significance|not provided
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) single nucleotide variant Acute myeloid leukemia [RCV000433893]|Adenocarcinoma of stomach [RCV000439052]|Breast neoplasm [RCV000424247]|Chronic lymphocytic leukemia [RCV000434069]|Costello syndrome [RCV000013440]|Hepatocellular carcinoma [RCV000445336]|Large congenital melanocytic nevus [RCV000762847]|Lung adenocarcinoma [RCV000420958]|Malignant melanoma of skin [RCV000426653]|Malignant neoplasm of body of uterus [RCV000436205]|Multiple myeloma [RCV000417661]|Neoplasm [RCV000439954]|Neoplasm of the large intestine [RCV000444110]|Neoplasm of the thyroid gland [RCV000428812]|Neoplasm of uterine cervix [RCV000445225]|Noonan syndrome [RCV000678903]|Pancreatic adenocarcinoma [RCV000425964]|Rasopathy [RCV000149831]|Squamous cell carcinoma of the head and neck [RCV000423190]|Squamous cell carcinoma of the skin [RCV000441514]|Squamous cell lung carcinoma [RCV000431688]|Transitional cell carcinoma of the bladder [RCV000436007]|not provided [RCV000207504] Chr11:534286 [GRCh38]
Chr11:534286 [GRCh37]
Chr11:11p15.5
pathogenic|likely pathogenic
NM_005343.4(HRAS):c.81T>C (p.His27=) single nucleotide variant Costello syndrome [RCV000659682]|Rasopathy [RCV000149841]|Squamous cell lung carcinoma [RCV001250943]|none provided [RCV001283546]|not provided [RCV000509400]|not specified [RCV000038468] Chr11:534242 [GRCh38]
Chr11:534242 [GRCh37]
Chr11:11p15.5
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_005343.4(HRAS):c.112-10C>T single nucleotide variant Costello syndrome [RCV000637313]|not specified [RCV000150833] Chr11:533954 [GRCh38]
Chr11:533954 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.175G>A (p.Ala59Thr) single nucleotide variant Costello syndrome [RCV000150835]|Non-small cell lung cancer [RCV000150834] Chr11:533881 [GRCh38]
Chr11:533881 [GRCh37]
Chr11:11p15.5
likely pathogenic
NM_005343.4(HRAS):c.35_36delinsAA (p.Gly12Glu) indel Costello syndrome [RCV000150836]|not provided [RCV000255809] Chr11:534287..534288 [GRCh38]
Chr11:534287..534288 [GRCh37]
Chr11:11p15.5
pathogenic|likely pathogenic
NM_005343.4(HRAS):c.418C>T (p.Pro140Ser) single nucleotide variant Costello syndrome [RCV000700279]|not specified [RCV000154499] Chr11:533485 [GRCh38]
Chr11:533485 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.257A>C (p.Asn86Thr) single nucleotide variant Costello syndrome [RCV001085194]|Noonan syndrome [RCV001261051]|Rasopathy [RCV000519779]|not provided [RCV000680288]|not specified [RCV000154506] Chr11:533799 [GRCh38]
Chr11:533799 [GRCh37]
Chr11:11p15.5
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005343.4(HRAS):c.505C>T (p.Arg169Trp) single nucleotide variant Costello syndrome [RCV000803493]|not specified [RCV000154576] Chr11:532701 [GRCh38]
Chr11:532701 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.36C>A (p.Gly12=) single nucleotide variant not specified [RCV000154620] Chr11:534287 [GRCh38]
Chr11:534287 [GRCh37]
Chr11:11p15.5
not provided
NM_005343.4(HRAS):c.31G>A (p.Ala11Thr) single nucleotide variant Costello syndrome [RCV000694918]|not specified [RCV000155632] Chr11:534292 [GRCh38]
Chr11:534292 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.45C>T (p.Gly15=) single nucleotide variant Costello syndrome [RCV000818776]|not provided [RCV000585962]|not specified [RCV000155869] Chr11:534278 [GRCh38]
Chr11:534278 [GRCh37]
Chr11:11p15.5
likely benign|uncertain significance
NM_005343.4(HRAS):c.175_176delinsCT (p.Ala59Leu) indel Costello syndrome [RCV000156047] Chr11:533880..533881 [GRCh38]
Chr11:533880..533881 [GRCh37]
Chr11:11p15.5
likely pathogenic
NM_005343.4(HRAS):c.450+84C>A single nucleotide variant not specified [RCV000156318] Chr11:533369 [GRCh38]
Chr11:533369 [GRCh37]
Chr11:11p15.5
uncertain significance
NC_000011.9:g.(?_532631)_(534375_?)dup duplication not specified [RCV000156408] Chr11:532631..534375 [GRCh38]
Chr11:532631..534375 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.450+171C>T single nucleotide variant not specified [RCV000156659] Chr11:533282 [GRCh38]
Chr11:533282 [GRCh37]
Chr11:11p15.5
not provided
NM_005343.4(HRAS):c.177C>T (p.Ala59=) single nucleotide variant Costello syndrome [RCV000470354]|not specified [RCV000157907] Chr11:533879 [GRCh38]
Chr11:533879 [GRCh37]
Chr11:11p15.5
benign|likely benign|conflicting interpretations of pathogenicity
NM_005343.4(HRAS):c.450+144C>T single nucleotide variant not specified [RCV000157908] Chr11:533309 [GRCh38]
Chr11:533309 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.508A>T (p.Lys170Ter) single nucleotide variant Costello syndrome [RCV000551172]|not provided [RCV000157909] Chr11:532698 [GRCh38]
Chr11:532698 [GRCh37]
Chr11:11p15.5
likely benign|uncertain significance
NM_005343.4(HRAS):c.6-2A>C single nucleotide variant not specified [RCV000157910] Chr11:532524 [GRCh38]
Chr11:532524 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) single nucleotide variant Acute myeloid leukemia [RCV000427265]|Adenocarcinoma of stomach [RCV000428389]|Breast neoplasm [RCV000444507]|Chronic lymphocytic leukemia [RCV000418565]|Costello syndrome [RCV000590121]|Hepatocellular carcinoma [RCV000418712]|Lip and oral cavity carcinoma [RCV001255688]|Lung adenocarcinoma [RCV000419846]|Malignant melanoma of skin [RCV000432148]|Malignant neoplasm of body of uterus [RCV000437080]|Multiple myeloma [RCV000426169]|Neoplasm of the large intestine [RCV000424767]|Neoplasm of uterine cervix [RCV000444587]|Pancreatic adenocarcinoma [RCV000421468]|Squamous cell carcinoma of the head and neck [RCV000436822]|Squamous cell carcinoma of the skin [RCV000434580]|Squamous cell lung carcinoma [RCV000429433]|Thymoma [RCV000442670]|Transitional cell carcinoma of the bladder [RCV000439230]|not provided [RCV000157914] Chr11:534285 [GRCh38]
Chr11:534285 [GRCh37]
Chr11:11p15.5
pathogenic|likely pathogenic
NM_005343.4(HRAS):c.179G>A (p.Gly60Asp) single nucleotide variant Costello syndrome [RCV001387769]|not provided [RCV000157917] Chr11:533877 [GRCh38]
Chr11:533877 [GRCh37]
Chr11:11p15.5
pathogenic
NM_005343.4(HRAS):c.203G>A (p.Arg68Gln) single nucleotide variant Costello syndrome [RCV000557317] Chr11:533853 [GRCh38]
Chr11:533853 [GRCh37]
Chr11:11p15.5
likely pathogenic|uncertain significance
NM_005343.4(HRAS):c.317C>G (p.Ser106Trp) single nucleotide variant Costello syndrome [RCV000816581]|not provided [RCV000157921] Chr11:533586 [GRCh38]
Chr11:533586 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.367C>T (p.Arg123Cys) single nucleotide variant Costello syndrome [RCV000471505]|not provided [RCV000157922]|not specified [RCV000606057] Chr11:533536 [GRCh38]
Chr11:533536 [GRCh37]
Chr11:11p15.5
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_005343.4(HRAS):c.368G>C (p.Arg123Pro) single nucleotide variant Costello syndrome [RCV000533738] Chr11:533535 [GRCh38]
Chr11:533535 [GRCh37]
Chr11:11p15.5
likely pathogenic|uncertain significance
NM_005343.4(HRAS):c.544A>G (p.Met182Val) single nucleotide variant Costello syndrome [RCV001219043]|not provided [RCV000157924] Chr11:532662 [GRCh38]
Chr11:532662 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.35_36delinsAT (p.Gly12Asp) indel Rasopathy [RCV000157925] Chr11:534287..534288 [GRCh38]
Chr11:534287..534288 [GRCh37]
Chr11:11p15.5
pathogenic
NM_005343.4(HRAS):c.362C>T (p.Ala121Val) single nucleotide variant not provided [RCV000157927] Chr11:533541 [GRCh38]
Chr11:533541 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.506G>A (p.Arg169Gln) single nucleotide variant Costello syndrome [RCV000463046]|not provided [RCV000505776] Chr11:532700 [GRCh38]
Chr11:532700 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.35_36delinsCT (p.Gly12Ala) indel not provided [RCV000157929] Chr11:534287..534288 [GRCh38]
Chr11:534287..534288 [GRCh37]
Chr11:11p15.5
pathogenic
GRCh37/hg19 11p15.5(chr11:532230-699463)x3 copy number gain See cases [RCV000240134] Chr11:532230..699463 [GRCh37]
Chr11:11p15.5
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_005343.4(HRAS):c.214A>C (p.Met72Leu) single nucleotide variant not provided [RCV000756250] Chr11:533842 [GRCh38]
Chr11:533842 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.36C>T (p.Gly12=) single nucleotide variant Costello syndrome [RCV000207496]|Rasopathy [RCV000522904]|not provided [RCV000586057] Chr11:534287 [GRCh38]
Chr11:534287 [GRCh37]
Chr11:11p15.5
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005343.4(HRAS):c.266C>G (p.Ser89Cys) single nucleotide variant not provided [RCV000207497] Chr11:533790 [GRCh38]
Chr11:533790 [GRCh37]
Chr11:11p15.5
likely pathogenic
NM_005343.4(HRAS):c.468C>T (p.Phe156=) single nucleotide variant not specified [RCV000223407] Chr11:532738 [GRCh38]
Chr11:532738 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.546G>A (p.Met182Ile) single nucleotide variant Costello syndrome [RCV000229010] Chr11:532660 [GRCh38]
Chr11:532660 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.174_192del (p.Gly60fs) deletion Costello syndrome [RCV000229731] Chr11:533864..533882 [GRCh38]
Chr11:533864..533882 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.339G>A (p.Leu113=) single nucleotide variant not provided [RCV000230395] Chr11:533564 [GRCh38]
Chr11:533564 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.4A>G (p.Thr2Ala) single nucleotide variant Costello syndrome [RCV000232309] Chr11:534319 [GRCh38]
Chr11:534319 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.290+6C>A single nucleotide variant Costello syndrome [RCV000232587] Chr11:533760 [GRCh38]
Chr11:533760 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.309G>A (p.Val103=) single nucleotide variant Costello syndrome [RCV000227548]|Rasopathy [RCV000519223] Chr11:533594 [GRCh38]
Chr11:533594 [GRCh37]
Chr11:11p15.5
benign|likely benign
NM_005343.4(HRAS):c.498C>A (p.His166Gln) single nucleotide variant Costello syndrome [RCV000228331] Chr11:532708 [GRCh38]
Chr11:532708 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.111+6C>T single nucleotide variant Costello syndrome [RCV000227164] Chr11:534206 [GRCh38]
Chr11:534206 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.100C>T (p.Pro34Ser) single nucleotide variant Vascular Tumors Including Pyogenic Granuloma [RCV000662272] Chr11:534223 [GRCh38]
Chr11:534223 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.35_36delinsTA (p.Gly12Val) indel not provided [RCV000322736] Chr11:534287..534288 [GRCh38]
Chr11:534287..534288 [GRCh37]
Chr11:11p15.5
pathogenic
NM_005343.4(HRAS):c.452G>C (p.Gly151Ala) single nucleotide variant Costello syndrome [RCV000525978] Chr11:532754 [GRCh38]
Chr11:532754 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.57G>C (p.Leu19=) single nucleotide variant Costello syndrome [RCV000874891]|not specified [RCV000244358] Chr11:534266 [GRCh38]
Chr11:534266 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.171T>C (p.Asp57=) single nucleotide variant Costello syndrome [RCV000871401]|not specified [RCV000246927] Chr11:533885 [GRCh38]
Chr11:533885 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.369C>T (p.Arg123=) single nucleotide variant Costello syndrome [RCV001079542]|Rasopathy [RCV000520797]|not provided [RCV000588992]|not specified [RCV000242213] Chr11:533534 [GRCh38]
Chr11:533534 [GRCh37]
Chr11:11p15.5
benign|likely benign
NM_005343.4(HRAS):c.42G>A (p.Val14=) single nucleotide variant Costello syndrome [RCV000462480]|not specified [RCV000247431] Chr11:534281 [GRCh38]
Chr11:534281 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.64C>T (p.Gln22Ter) single nucleotide variant not provided [RCV000269895] Chr11:534259 [GRCh38]
Chr11:534259 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.112-13T>A single nucleotide variant not specified [RCV001269170] Chr11:533957 [GRCh38]
Chr11:533957 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.291-6T>G single nucleotide variant Costello syndrome [RCV000872282]|Rasopathy [RCV000521008]|not specified [RCV001255585] Chr11:533618 [GRCh38]
Chr11:533618 [GRCh37]
Chr11:11p15.5
benign|likely benign
NM_005343.4(HRAS):c.383G>C (p.Arg128Pro) single nucleotide variant Costello syndrome [RCV000637305] Chr11:533520 [GRCh38]
Chr11:533520 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.11A>G (p.Tyr4Cys) single nucleotide variant Costello syndrome [RCV001322927]|not specified [RCV000598510] Chr11:534312 [GRCh38]
Chr11:534312 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.397C>T (p.Leu133Phe) single nucleotide variant Costello syndrome [RCV000637303] Chr11:533506 [GRCh38]
Chr11:533506 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.153C>T (p.Cys51=) single nucleotide variant Costello syndrome [RCV000637311] Chr11:533903 [GRCh38]
Chr11:533903 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.10T>C (p.Tyr4His) single nucleotide variant not provided [RCV000590817] Chr11:534313 [GRCh38]
Chr11:534313 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.84T>C (p.Phe28=) single nucleotide variant not specified [RCV000600165] Chr11:534239 [GRCh38]
Chr11:534239 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.304C>T (p.Arg102Trp) single nucleotide variant Costello syndrome [RCV001369972]|not specified [RCV000414564] Chr11:533599 [GRCh38]
Chr11:533599 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.474G>A (p.Thr158=) single nucleotide variant not provided [RCV000540981] Chr11:532732 [GRCh38]
Chr11:532732 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.186_206dup (p.Glu62_Arg68dup) duplication Costello syndrome [RCV000546898] Chr11:533849..533850 [GRCh38]
Chr11:533849..533850 [GRCh37]
Chr11:11p15.5
likely pathogenic|uncertain significance
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
GRCh37/hg19 11p15.5(chr11:494540-616565)x3 copy number gain See cases [RCV000447296] Chr11:494540..616565 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.181C>G (p.Gln61Glu) single nucleotide variant Acute myeloid leukemia [RCV000435578]|Adenocarcinoma of stomach [RCV000431015]|Chronic lymphocytic leukemia [RCV000420757]|Hepatocellular carcinoma [RCV000427302]|Lung adenocarcinoma [RCV000444619]|Malignant melanoma of skin [RCV000422470]|Malignant neoplasm of body of uterus [RCV000442518]|Multiple myeloma [RCV000444550]|Neoplasm of the large intestine [RCV000437532]|Neoplasm of the thyroid gland [RCV000424391]|Pancreatic adenocarcinoma [RCV000423098]|Squamous cell lung carcinoma [RCV000432499]|Transitional cell carcinoma of the bladder [RCV000432733] Chr11:533875 [GRCh38]
Chr11:533875 [GRCh37]
Chr11:11p15.5
likely pathogenic
NM_005343.4(HRAS):c.426C>T (p.Ile142=) single nucleotide variant not provided [RCV000434218] Chr11:533477 [GRCh38]
Chr11:533477 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.54G>A (p.Ala18=) single nucleotide variant Costello syndrome [RCV001084746]|not provided [RCV000437756]|not specified [RCV001175031] Chr11:534269 [GRCh38]
Chr11:534269 [GRCh37]
Chr11:11p15.5
benign|likely benign
NM_005343.4(HRAS):c.179G>T (p.Gly60Val) single nucleotide variant not provided [RCV000443979] Chr11:533877 [GRCh38]
Chr11:533877 [GRCh37]
Chr11:11p15.5
pathogenic
NM_005343.4(HRAS):c.183G>T (p.Gln61His) single nucleotide variant Adenocarcinoma of prostate [RCV000433734]|Breast neoplasm [RCV000423449]|Lung adenocarcinoma [RCV000440259]|Malignant melanoma of skin [RCV000424686]|Neoplasm [RCV000420806]|Neoplasm of the thyroid gland [RCV000434965]|Noonan syndrome 3 [RCV000589258]|Squamous cell carcinoma of the head and neck [RCV000433099]|Squamous cell carcinoma of the skin [RCV000444731]|Squamous cell lung carcinoma [RCV000442468]|Transitional cell carcinoma of the bladder [RCV000421964] Chr11:533873 [GRCh38]
Chr11:533873 [GRCh37]
Chr11:11p15.5
likely pathogenic
NM_005343.4(HRAS):c.460G>A (p.Asp154Asn) single nucleotide variant Costello syndrome [RCV000637302]|not provided [RCV000434487] Chr11:532746 [GRCh38]
Chr11:532746 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.162C>T (p.Asp54=) single nucleotide variant not specified [RCV000438047] Chr11:533894 [GRCh38]
Chr11:533894 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.450+174G>A single nucleotide variant not provided [RCV000445288] Chr11:533279 [GRCh38]
Chr11:533279 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.5+20C>T single nucleotide variant not specified [RCV000441723] Chr11:532611 [GRCh38]
Chr11:532611 [GRCh37]
Chr11:11p15.5
benign
NM_005343.4(HRAS):c.182_183delinsGA (p.Gln61Arg) indel Neoplasm [RCV000418005] Chr11:533873..533874 [GRCh38]
Chr11:533873..533874 [GRCh37]
Chr11:11p15.5
likely pathogenic
NM_005343.4(HRAS):c.182_183delinsGT (p.Gln61Arg) indel Neoplasm [RCV000435225] Chr11:533873..533874 [GRCh38]
Chr11:533873..533874 [GRCh37]
Chr11:11p15.5
likely pathogenic
NM_005343.4(HRAS):c.183G>C (p.Gln61His) single nucleotide variant Neoplasm [RCV000428014] Chr11:533873 [GRCh38]
Chr11:533873 [GRCh37]
Chr11:11p15.5
likely pathogenic
NM_005343.4(HRAS):c.150G>A (p.Thr50=) single nucleotide variant not provided [RCV000428021] Chr11:533906 [GRCh38]
Chr11:533906 [GRCh37]
Chr11:11p15.5
likely benign
GRCh37/hg19 11p15.5(chr11:532230-699404)x3 copy number gain See cases [RCV000445988] Chr11:532230..699404 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.234C>T (p.Phe78=) single nucleotide variant not provided [RCV000424616] Chr11:533822 [GRCh38]
Chr11:533822 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.450+18C>T single nucleotide variant not provided [RCV000442192] Chr11:533435 [GRCh38]
Chr11:533435 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.38G>C (p.Gly13Ala) single nucleotide variant Acute myeloid leukemia [RCV000424186]|Adenocarcinoma of stomach [RCV000421384]|Chronic lymphocytic leukemia [RCV000426316]|Hepatocellular carcinoma [RCV000445345]|Lung adenocarcinoma [RCV000434457]|Malignant neoplasm of body of uterus [RCV000434248]|Multiple myeloma [RCV000442365]|Neoplasm of the large intestine [RCV000440965]|Neoplasm of uterine cervix [RCV000433957]|Pancreatic adenocarcinoma [RCV000425652] Chr11:534285 [GRCh38]
Chr11:534285 [GRCh37]
Chr11:11p15.5
likely pathogenic
NM_005343.4(HRAS):c.34G>C (p.Gly12Arg) single nucleotide variant Neoplasm of the large intestine [RCV000431895]|Neoplasm of the thyroid gland [RCV000421560] Chr11:534289 [GRCh38]
Chr11:534289 [GRCh37]
Chr11:11p15.5
pathogenic|likely pathogenic
NM_005343.4(HRAS):c.-53-17A>G single nucleotide variant not provided [RCV000429334] Chr11:534392 [GRCh38]
Chr11:534392 [GRCh37]
Chr11:11p15.5
benign|likely benign
NM_005343.4(HRAS):c.182A>C (p.Gln61Pro) single nucleotide variant Acute myeloid leukemia [RCV000428741]|Adenocarcinoma of stomach [RCV000435489]|Chronic lymphocytic leukemia [RCV000424105]|Hepatocellular carcinoma [RCV000440764]|Lung adenocarcinoma [RCV000441832]|Malignant melanoma of skin [RCV000430658]|Malignant neoplasm of body of uterus [RCV000430030]|Multiple myeloma [RCV000420448]|Neoplasm [RCV000428681]|Neoplasm of the large intestine [RCV000425877]|Neoplasm of the thyroid gland [RCV000435275]|Pancreatic adenocarcinoma [RCV000419094]|Squamous cell lung carcinoma [RCV000435915]|Transitional cell carcinoma of the bladder [RCV000417619] Chr11:533874 [GRCh38]
Chr11:533874 [GRCh37]
Chr11:11p15.5
likely pathogenic
NM_005343.4(HRAS):c.37G>A (p.Gly13Ser) single nucleotide variant Breast neoplasm [RCV000424171]|Lung adenocarcinoma [RCV000430707]|Malignant melanoma of skin [RCV000417857]|Neoplasm [RCV000422141]|Squamous cell carcinoma of the head and neck [RCV000435549]|Squamous cell carcinoma of the skin [RCV000430043]|Squamous cell lung carcinoma [RCV000440979]|Transitional cell carcinoma of the bladder [RCV000427918]|Vascular Tumors Including Pyogenic Granuloma [RCV000662270] Chr11:534286 [GRCh38]
Chr11:534286 [GRCh37]
Chr11:11p15.5
likely pathogenic
NM_005343.4(HRAS):c.436G>C (p.Ala146Pro) single nucleotide variant Acute myeloid leukemia [RCV000417704]|Adenocarcinoma of stomach [RCV000439704]|Lung adenocarcinoma [RCV000439018]|Multiple myeloma [RCV000429488]|Neoplasm of the large intestine [RCV000427905]|Neoplasm of uterine cervix [RCV000418346] Chr11:533467 [GRCh38]
Chr11:533467 [GRCh37]
Chr11:11p15.5
likely pathogenic
NM_005343.4(HRAS):c.291-8C>T single nucleotide variant Costello syndrome [RCV001084880]|not provided [RCV000433431] Chr11:533620 [GRCh38]
Chr11:533620 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.450+124C>T single nucleotide variant not provided [RCV000423204] Chr11:533329 [GRCh38]
Chr11:533329 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.228G>A (p.Glu76=) single nucleotide variant not provided [RCV000423251] Chr11:533828 [GRCh38]
Chr11:533828 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.182A>T (p.Gln61Leu) single nucleotide variant Acute myeloid leukemia [RCV000428206]|Adenocarcinoma of prostate [RCV000438465]|Adenocarcinoma of stomach [RCV000428443]|Breast neoplasm [RCV000439626]|Chronic lymphocytic leukemia [RCV000433098]|Costello syndrome [RCV001372584]|Hepatocellular carcinoma [RCV000420395]|Lip and oral cavity carcinoma [RCV001255684]|Lung adenocarcinoma [RCV000436845]|Malignant melanoma of skin [RCV000425694]|Malignant neoplasm of body of uterus [RCV000421974]|Multiple myeloma [RCV000438263]|Neoplasm of the large intestine [RCV000421690]|Neoplasm of the thyroid gland [RCV000445166]|Pancreatic adenocarcinoma [RCV000426826]|Squamous cell carcinoma of the head and neck [RCV000420623]|Squamous cell carcinoma of the skin [RCV000445204]|Squamous cell lung carcinoma [RCV000437079]|Transitional cell carcinoma of the bladder [RCV000430634] Chr11:533874 [GRCh38]
Chr11:533874 [GRCh37]
Chr11:11p15.5
pathogenic|likely pathogenic|uncertain significance
NC_000011.9:g.(?_532631)_(532755_?)dup duplication Costello syndrome [RCV000474493] Chr11:532631..532755 [GRCh38]
Chr11:532631..532755 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.219C>T (p.Arg73=) single nucleotide variant Costello syndrome [RCV000471546] Chr11:533837 [GRCh38]
Chr11:533837 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.120C>T (p.Tyr40=) single nucleotide variant Costello syndrome [RCV000456682]|not provided [RCV001310581] Chr11:533936 [GRCh38]
Chr11:533936 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.398T>A (p.Leu133His) single nucleotide variant Costello syndrome [RCV000456787]|not provided [RCV000681068] Chr11:533505 [GRCh38]
Chr11:533505 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.156G>A (p.Leu52=) single nucleotide variant Costello syndrome [RCV000460380] Chr11:533900 [GRCh38]
Chr11:533900 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.537C>T (p.Pro179=) single nucleotide variant Costello syndrome [RCV000471783] Chr11:532669 [GRCh38]
Chr11:532669 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.391C>T (p.Gln131Ter) single nucleotide variant Costello syndrome [RCV000475366] Chr11:533512 [GRCh38]
Chr11:533512 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.106A>G (p.Ile36Val) single nucleotide variant Costello syndrome [RCV000475424] Chr11:534217 [GRCh38]
Chr11:534217 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.-95_-90CGGCCC[1] microsatellite not specified [RCV000485121] Chr11:535446..535451 [GRCh38]
Chr11:535446..535451 [GRCh37]
Chr11:11p15.5
benign
NM_005343.4(HRAS):c.534C>G (p.Gly178=) single nucleotide variant Costello syndrome [RCV000464492]|not specified [RCV001420905] Chr11:532672 [GRCh38]
Chr11:532672 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.16C>T (p.Leu6=) single nucleotide variant not provided [RCV000475729] Chr11:534307 [GRCh38]
Chr11:534307 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.516C>T (p.Asn172=) single nucleotide variant Costello syndrome [RCV000460869]|not specified [RCV000610082] Chr11:532690 [GRCh38]
Chr11:532690 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.451-5C>G single nucleotide variant Costello syndrome [RCV001078758]|not provided [RCV000681281] Chr11:532760 [GRCh38]
Chr11:532760 [GRCh37]
Chr11:11p15.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005343.4(HRAS):c.519T>G (p.Pro173=) single nucleotide variant Costello syndrome [RCV000465686] Chr11:532687 [GRCh38]
Chr11:532687 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.448C>T (p.Gln150Ter) single nucleotide variant not provided [RCV000478173] Chr11:533455 [GRCh38]
Chr11:533455 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.312G>A (p.Lys104=) single nucleotide variant Costello syndrome [RCV000462463] Chr11:533591 [GRCh38]
Chr11:533591 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.317C>T (p.Ser106Leu) single nucleotide variant Costello syndrome [RCV000469881] Chr11:533586 [GRCh38]
Chr11:533586 [GRCh37]
Chr11:11p15.5
uncertain significance
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12
pathogenic
NM_005343.4(HRAS):c.302A>G (p.Lys101Arg) single nucleotide variant Costello syndrome [RCV000705122]|not provided [RCV000494039] Chr11:533601 [GRCh38]
Chr11:533601 [GRCh37]
Chr11:11p15.5
uncertain significance
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_005343.4(HRAS):c.102C>T (p.Pro34=) single nucleotide variant Costello syndrome [RCV000637314] Chr11:534221 [GRCh38]
Chr11:534221 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.450+139dup duplication Costello syndrome [RCV000625815] Chr11:533308..533309 [GRCh38]
Chr11:533308..533309 [GRCh37]
Chr11:11p15.5
pathogenic|uncertain significance
NM_005343.4(HRAS):c.445C>T (p.Arg149Trp) single nucleotide variant Costello syndrome [RCV000700035]|not provided [RCV000681102]|not specified [RCV000595459] Chr11:533458 [GRCh38]
Chr11:533458 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.222C>T (p.Thr74=) single nucleotide variant Costello syndrome [RCV001082400]|not provided [RCV000586814] Chr11:533834 [GRCh38]
Chr11:533834 [GRCh37]
Chr11:11p15.5
benign
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_005343.4(HRAS):c.141T>C (p.Asp47=) single nucleotide variant Costello syndrome [RCV000637306]|not specified [RCV001194129] Chr11:533915 [GRCh38]
Chr11:533915 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.96C>T (p.Tyr32=) single nucleotide variant Costello syndrome [RCV000637312]|not specified [RCV000781470] Chr11:534227 [GRCh38]
Chr11:534227 [GRCh37]
Chr11:11p15.5
likely benign|uncertain significance
NM_005343.4(HRAS):c.552dup (p.Lys185fs) duplication Costello syndrome [RCV000637304] Chr11:532653..532654 [GRCh38]
Chr11:532653..532654 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.451-5C>T single nucleotide variant Costello syndrome [RCV000637310]|not specified [RCV000605326] Chr11:532760 [GRCh38]
Chr11:532760 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.435G>A (p.Ser145=) single nucleotide variant Costello syndrome [RCV000537215] Chr11:533468 [GRCh38]
Chr11:533468 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.156G>T (p.Leu52=) single nucleotide variant not provided [RCV000532181] Chr11:533900 [GRCh38]
Chr11:533900 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.27_29dup (p.Gly10dup) duplication not provided [RCV000586325] Chr11:534293..534294 [GRCh38]
Chr11:534293..534294 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.482G>A (p.Arg161His) single nucleotide variant Costello syndrome [RCV001202259]|not specified [RCV000616994] Chr11:532724 [GRCh38]
Chr11:532724 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.-54+7G>A single nucleotide variant not specified [RCV000609219] Chr11:535409 [GRCh38]
Chr11:535409 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.291-17C>G single nucleotide variant not specified [RCV000611909] Chr11:533629 [GRCh38]
Chr11:533629 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.413G>A (p.Gly138Asp) single nucleotide variant Costello syndrome [RCV000558860] Chr11:533490 [GRCh38]
Chr11:533490 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.411C>T (p.Tyr137=) single nucleotide variant Costello syndrome [RCV000637307] Chr11:533492 [GRCh38]
Chr11:533492 [GRCh37]
Chr11:11p15.5
likely benign
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_198075.4(LRRC56):c.419T>C (p.Leu140Pro) single nucleotide variant Ciliary dyskinesia, primary, 39 [RCV000735804] Chr11:549994 [GRCh38]
Chr11:549994 [GRCh37]
Chr11:11p15.5
pathogenic
NM_005343.4(HRAS):c.111+14C>T single nucleotide variant not specified [RCV000600392] Chr11:534198 [GRCh38]
Chr11:534198 [GRCh37]
Chr11:11p15.5
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_005343.4(HRAS):c.145G>A (p.Glu49Lys) single nucleotide variant Vascular Tumors Including Pyogenic Granuloma [RCV000662269] Chr11:533911 [GRCh38]
Chr11:533911 [GRCh37]
Chr11:11p15.5
likely pathogenic
NM_005343.4(HRAS):c.-19C>T single nucleotide variant not provided [RCV000681168] Chr11:534341 [GRCh38]
Chr11:534341 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.451-282C>T single nucleotide variant not provided [RCV000681305] Chr11:533037 [GRCh38]
Chr11:533037 [GRCh37]
Chr11:11p15.5
benign
NM_005343.4(HRAS):c.137T>C (p.Ile46Thr) single nucleotide variant not provided [RCV000681108] Chr11:533919 [GRCh38]
Chr11:533919 [GRCh37]
Chr11:11p15.5
likely pathogenic
NM_005343.4(HRAS):c.5+14C>G single nucleotide variant not provided [RCV000680622] Chr11:532617 [GRCh38]
Chr11:532617 [GRCh37]
Chr11:11p15.5
likely benign
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_005343.4(HRAS):c.451-168T>G single nucleotide variant not provided [RCV000680678] Chr11:532923 [GRCh38]
Chr11:532923 [GRCh37]
Chr11:11p15.5
benign
NM_005343.4(HRAS):c.451-341G>A single nucleotide variant not provided [RCV000680741] Chr11:533096 [GRCh38]
Chr11:533096 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.-53-40_-53-35del deletion not provided [RCV000680646] Chr11:534410..534415 [GRCh38]
Chr11:534410..534415 [GRCh37]
Chr11:11p15.5
benign
NM_005343.4(HRAS):c.-53-40_-53-29del deletion not provided [RCV000680644] Chr11:534404..534415 [GRCh38]
Chr11:534404..534415 [GRCh37]
Chr11:11p15.5
benign
NM_005343.4(HRAS):c.451-48C>T single nucleotide variant not provided [RCV000680739] Chr11:532803 [GRCh38]
Chr11:532803 [GRCh37]
Chr11:11p15.5
likely benign
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
NM_005343.4(HRAS):c.461A>T (p.Asp154Val) single nucleotide variant Costello syndrome [RCV000701626] Chr11:532745 [GRCh38]
Chr11:532745 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.487A>T (p.Ile163Phe) single nucleotide variant Costello syndrome [RCV000704391] Chr11:532719 [GRCh38]
Chr11:532719 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.238T>A (p.Cys80Ser) single nucleotide variant Costello syndrome [RCV000704627] Chr11:533818 [GRCh38]
Chr11:533818 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.388G>C (p.Ala130Pro) single nucleotide variant Costello syndrome [RCV000707594] Chr11:533515 [GRCh38]
Chr11:533515 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.490C>T (p.Arg164Trp) single nucleotide variant Costello syndrome [RCV000703060] Chr11:532716 [GRCh38]
Chr11:532716 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.332T>C (p.Met111Thr) single nucleotide variant Costello syndrome [RCV000689351] Chr11:533571 [GRCh38]
Chr11:533571 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.394G>A (p.Asp132Asn) single nucleotide variant Costello syndrome [RCV000687312]|not provided [RCV000788501] Chr11:533509 [GRCh38]
Chr11:533509 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.424A>C (p.Ile142Leu) single nucleotide variant Costello syndrome [RCV000696822] Chr11:533479 [GRCh38]
Chr11:533479 [GRCh37]
Chr11:11p15.5
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
GRCh37/hg19 11p15.5(chr11:285188-561859)x3 copy number gain not provided [RCV000737353] Chr11:285188..561859 [GRCh37]
Chr11:11p15.5
benign
GRCh37/hg19 11p15.5(chr11:353757-561787)x3 copy number gain not provided [RCV000737356] Chr11:353757..561787 [GRCh37]
Chr11:11p15.5
benign
GRCh37/hg19 11p15.5(chr11:381754-821676)x3 copy number gain not provided [RCV000749876] Chr11:381754..821676 [GRCh37]
Chr11:11p15.5
benign
GRCh37/hg19 11p15.5(chr11:529101-577534)x1 copy number loss not provided [RCV000749883] Chr11:529101..577534 [GRCh37]
Chr11:11p15.5
benign
GRCh37/hg19 11p15.5(chr11:551204-563598)x3 copy number gain not provided [RCV000749884] Chr11:551204..563598 [GRCh37]
Chr11:11p15.5
benign
GRCh37/hg19 11p15.5(chr11:554262-567391)x3 copy number gain not provided [RCV000749885] Chr11:554262..567391 [GRCh37]
Chr11:11p15.5
benign
GRCh37/hg19 11p15.5(chr11:554262-577534)x3 copy number gain not provided [RCV000749886] Chr11:554262..577534 [GRCh37]
Chr11:11p15.5
benign
NM_005343.4(HRAS):c.451-10C>T single nucleotide variant Costello syndrome [RCV000895227] Chr11:532765 [GRCh38]
Chr11:532765 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.17TGG[3] (p.Val9del) microsatellite Costello syndrome [RCV001067470] Chr11:534295..534297 [GRCh38]
Chr11:534295..534297 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.450+132_450+151del deletion Rasopathy [RCV001030086] Chr11:533302..533321 [GRCh38]
Chr11:533302..533321 [GRCh37]
Chr11:11p15.5
benign
NC_000011.10:g.(?_532616)_(795026_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001031133] Chr11:532616..795026 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.291-4_291-3del microsatellite Costello syndrome [RCV001401902]|not provided [RCV000972008] Chr11:533615..533616 [GRCh38]
Chr11:533615..533616 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.111+7C>T single nucleotide variant not provided [RCV000928974] Chr11:534205 [GRCh38]
Chr11:534205 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.451-8T>C single nucleotide variant Costello syndrome [RCV000877025] Chr11:532763 [GRCh38]
Chr11:532763 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.112-7C>T single nucleotide variant not provided [RCV000960361] Chr11:533951 [GRCh38]
Chr11:533951 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.112-4G>A single nucleotide variant Costello syndrome [RCV001416693]|not provided [RCV000928388] Chr11:533948 [GRCh38]
Chr11:533948 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.410A>C (p.Tyr137Ser) single nucleotide variant Costello syndrome [RCV001036900] Chr11:533493 [GRCh38]
Chr11:533493 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.280C>T (p.His94Tyr) single nucleotide variant Costello syndrome [RCV001069666] Chr11:533776 [GRCh38]
Chr11:533776 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.282C>G (p.His94Gln) single nucleotide variant Costello syndrome [RCV001056731] Chr11:533774 [GRCh38]
Chr11:533774 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.491G>C (p.Arg164Pro) single nucleotide variant Costello syndrome [RCV001054590] Chr11:532715 [GRCh38]
Chr11:532715 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.290+9C>G single nucleotide variant Costello syndrome [RCV000802561] Chr11:533757 [GRCh38]
Chr11:533757 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.382C>T (p.Arg128Trp) single nucleotide variant Costello syndrome [RCV000791901] Chr11:533521 [GRCh38]
Chr11:533521 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.291-9A>G single nucleotide variant Costello syndrome [RCV000864531]|not specified [RCV000781471] Chr11:533621 [GRCh38]
Chr11:533621 [GRCh37]
Chr11:11p15.5
likely benign|uncertain significance
NM_005343.4(HRAS):c.60C>T (p.Thr20=) single nucleotide variant Costello syndrome [RCV000873928] Chr11:534263 [GRCh38]
Chr11:534263 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.535C>G (p.Pro179Ala) single nucleotide variant Costello syndrome [RCV000898724] Chr11:532671 [GRCh38]
Chr11:532671 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.237G>A (p.Leu79=) single nucleotide variant Costello syndrome [RCV000875822] Chr11:533819 [GRCh38]
Chr11:533819 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.90C>T (p.Asp30=) single nucleotide variant Costello syndrome [RCV000874791] Chr11:534233 [GRCh38]
Chr11:534233 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.172_177delinsGTCCTGGATGTT (p.Thr58_Ala59delinsValLeuAspVal) indel Arteriovenous malformation [RCV000860022] Chr11:533879..533884 [GRCh38]
Chr11:533879..533884 [GRCh37]
Chr11:11p15.5
pathogenic
NM_005343.4(HRAS):c.538G>A (p.Gly180Ser) single nucleotide variant Costello syndrome [RCV000810206] Chr11:532668 [GRCh38]
Chr11:532668 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.41T>G (p.Val14Gly) single nucleotide variant Costello syndrome [RCV000810329] Chr11:534282 [GRCh38]
Chr11:534282 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.54G>C (p.Ala18=) single nucleotide variant not provided [RCV000959850] Chr11:534269 [GRCh38]
Chr11:534269 [GRCh37]
Chr11:11p15.5
likely benign
NC_000011.9:g.(?_532626)_(534332_?)dup duplication Costello syndrome [RCV000813327] Chr11:532626..534332 [GRCh38]
Chr11:532626..534332 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.451-3C>T single nucleotide variant Costello syndrome [RCV000803345] Chr11:532758 [GRCh38]
Chr11:532758 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.69G>A (p.Leu23=) single nucleotide variant Costello syndrome [RCV000871145]|not specified [RCV001420954] Chr11:534254 [GRCh38]
Chr11:534254 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.532G>C (p.Gly178Arg) single nucleotide variant Costello syndrome [RCV000817769] Chr11:532674 [GRCh38]
Chr11:532674 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.451-4C>T single nucleotide variant Costello syndrome [RCV000874555]|Noonan syndrome [RCV000824933] Chr11:532759 [GRCh38]
Chr11:532759 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.178G>A (p.Gly60Ser) single nucleotide variant Costello syndrome [RCV000818197] Chr11:533878 [GRCh38]
Chr11:533878 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.5C>T (p.Thr2Met) single nucleotide variant Costello syndrome [RCV000816525] Chr11:534318 [GRCh38]
Chr11:534318 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.520C>G (p.Pro174Ala) single nucleotide variant Costello syndrome [RCV000797018]|Noonan syndrome [RCV001261054] Chr11:532686 [GRCh38]
Chr11:532686 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.144G>A (p.Gly48=) single nucleotide variant not provided [RCV000964714] Chr11:533912 [GRCh38]
Chr11:533912 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.481C>T (p.Arg161Cys) single nucleotide variant Costello syndrome [RCV000797879] Chr11:532725 [GRCh38]
Chr11:532725 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.275A>C (p.Asp92Ala) single nucleotide variant Costello syndrome [RCV000823640] Chr11:533781 [GRCh38]
Chr11:533781 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.165_166insTCCGGAAGCAGGTGGTCATTGATGGGGAGACGTGCCTGTTGGACATC (p.Leu56fs) insertion not specified [RCV001194132] Chr11:533890..533891 [GRCh38]
Chr11:533890..533891 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.450+20C>A single nucleotide variant not specified [RCV001194133] Chr11:533433 [GRCh38]
Chr11:533433 [GRCh37]
Chr11:11p15.5
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
NM_005343.4(HRAS):c.297G>T (p.Gln99His) single nucleotide variant Costello syndrome [RCV001231060] Chr11:533606 [GRCh38]
Chr11:533606 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.426C>G (p.Ile142Met) single nucleotide variant Costello syndrome [RCV001204909] Chr11:533477 [GRCh38]
Chr11:533477 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.97G>A (p.Asp33Asn) single nucleotide variant Costello syndrome [RCV001219408] Chr11:534226 [GRCh38]
Chr11:534226 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.407G>A (p.Ser136Asn) single nucleotide variant Costello syndrome [RCV001208775] Chr11:533496 [GRCh38]
Chr11:533496 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.464C>T (p.Ala155Val) single nucleotide variant Costello syndrome [RCV001238905] Chr11:532742 [GRCh38]
Chr11:532742 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.412_431del (p.Gly138fs) deletion Costello syndrome [RCV001223776] Chr11:533472..533491 [GRCh38]
Chr11:533472..533491 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.295C>G (p.Gln99Glu) single nucleotide variant Costello syndrome [RCV001240627] Chr11:533608 [GRCh38]
Chr11:533608 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.427G>C (p.Glu143Gln) single nucleotide variant Costello syndrome [RCV001226647] Chr11:533476 [GRCh38]
Chr11:533476 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.383G>A (p.Arg128Gln) single nucleotide variant Costello syndrome [RCV001234711] Chr11:533520 [GRCh38]
Chr11:533520 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.274G>A (p.Asp92Asn) single nucleotide variant Costello syndrome [RCV001209828] Chr11:533782 [GRCh38]
Chr11:533782 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.566C>T (p.Ser189Phe) single nucleotide variant Costello syndrome [RCV001210405] Chr11:532640 [GRCh38]
Chr11:532640 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.263A>G (p.Lys88Arg) single nucleotide variant Costello syndrome [RCV001204299] Chr11:533793 [GRCh38]
Chr11:533793 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.450+17C>T single nucleotide variant not specified [RCV001174936] Chr11:533436 [GRCh38]
Chr11:533436 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.188_230dup (p.Phe78fs) duplication Costello syndrome [RCV000824932] Chr11:533825..533826 [GRCh38]
Chr11:533825..533826 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.174C>T (p.Thr58=) single nucleotide variant Costello syndrome [RCV000864872] Chr11:533882 [GRCh38]
Chr11:533882 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.102C>G (p.Pro34=) single nucleotide variant not provided [RCV000868366] Chr11:534221 [GRCh38]
Chr11:534221 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.539G>A (p.Gly180Asp) single nucleotide variant Costello syndrome [RCV001219695] Chr11:532667 [GRCh38]
Chr11:532667 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.463G>T (p.Ala155Ser) single nucleotide variant Costello syndrome [RCV001205671] Chr11:532743 [GRCh38]
Chr11:532743 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.260C>A (p.Thr87Asn) single nucleotide variant Costello syndrome [RCV001224158] Chr11:533796 [GRCh38]
Chr11:533796 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.111+10G>A single nucleotide variant not provided [RCV000933595] Chr11:534202 [GRCh38]
Chr11:534202 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.492G>A (p.Arg164=) single nucleotide variant Costello syndrome [RCV000955635] Chr11:532714 [GRCh38]
Chr11:532714 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.423C>T (p.Tyr141=) single nucleotide variant Costello syndrome [RCV001400667]|not provided [RCV000935429] Chr11:533480 [GRCh38]
Chr11:533480 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.231C>T (p.Gly77=) single nucleotide variant Costello syndrome [RCV000911535] Chr11:533825 [GRCh38]
Chr11:533825 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.451-6T>G single nucleotide variant Costello syndrome [RCV001228584] Chr11:532761 [GRCh38]
Chr11:532761 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.450+35A>C single nucleotide variant Squamous cell lung carcinoma [RCV001250979] Chr11:533418 [GRCh38]
Chr11:533418 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.450+31A>G single nucleotide variant Squamous cell lung carcinoma [RCV001250980] Chr11:533422 [GRCh38]
Chr11:533422 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.133G>A (p.Val45Ile) single nucleotide variant Costello syndrome [RCV001044559] Chr11:533923 [GRCh38]
Chr11:533923 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.290+10G>A single nucleotide variant not specified [RCV001194131] Chr11:533756 [GRCh38]
Chr11:533756 [GRCh37]
Chr11:11p15.5
uncertain significance
NC_000011.9:g.(?_532616)_(2906985_?)dup duplication Neuronal ceroid lipofuscinosis [RCV001032557] Chr11:532616..2906985 [GRCh37]
Chr11:11p15.5-15.4
uncertain significance
NM_005343.4(HRAS):c.503T>C (p.Leu168Pro) single nucleotide variant Costello syndrome [RCV001203653] Chr11:532703 [GRCh38]
Chr11:532703 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.245T>G (p.Phe82Cys) single nucleotide variant Costello syndrome [RCV001206337] Chr11:533811 [GRCh38]
Chr11:533811 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.544A>C (p.Met182Leu) single nucleotide variant Costello syndrome [RCV001217922] Chr11:532662 [GRCh38]
Chr11:532662 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.565T>G (p.Ser189Ala) single nucleotide variant Costello syndrome [RCV001061654] Chr11:532641 [GRCh38]
Chr11:532641 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.270dup (p.Glu91Ter) duplication Costello syndrome [RCV001231755] Chr11:533785..533786 [GRCh38]
Chr11:533785..533786 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.491G>A (p.Arg164Gln) single nucleotide variant Costello syndrome [RCV001219438] Chr11:532715 [GRCh38]
Chr11:532715 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.422A>G (p.Tyr141Cys) single nucleotide variant Costello syndrome [RCV001039872] Chr11:533481 [GRCh38]
Chr11:533481 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.112-7_112-5del microsatellite Costello syndrome [RCV001037002] Chr11:533949..533951 [GRCh38]
Chr11:533949..533951 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.548G>A (p.Ser183Asn) single nucleotide variant Costello syndrome [RCV001037216]|Noonan syndrome [RCV001261055] Chr11:532658 [GRCh38]
Chr11:532658 [GRCh37]
Chr11:11p15.5
likely benign|uncertain significance
NM_005343.4(HRAS):c.290+1G>C single nucleotide variant not specified [RCV001194130] Chr11:533765 [GRCh38]
Chr11:533765 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.419C>T (p.Pro140Leu) single nucleotide variant Costello syndrome [RCV001232757] Chr11:533484 [GRCh38]
Chr11:533484 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.-5G>A single nucleotide variant not specified [RCV001251409] Chr11:534327 [GRCh38]
Chr11:534327 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.450+36dup duplication Squamous cell lung carcinoma [RCV001250978] Chr11:533414..533415 [GRCh38]
Chr11:533414..533415 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.112-59_*6-51del deletion Costello syndrome [RCV001253224] Chr11:532573..534003 [GRCh38]
Chr11:532573..534003 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.111+18G>C single nucleotide variant Squamous cell lung carcinoma [RCV001250981] Chr11:534194 [GRCh38]
Chr11:534194 [GRCh37]
Chr11:11p15.5
uncertain significance
GRCh37/hg19 11p15.5(chr11:230615-1150353)x3 copy number gain not provided [RCV001259592] Chr11:230615..1150353 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.450+107_450+112dup duplication Noonan syndrome [RCV001261053] Chr11:533340..533341 [GRCh38]
Chr11:533340..533341 [GRCh37]
Chr11:11p15.5
uncertain significance
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_005343.4(HRAS):c.236T>A (p.Leu79Gln) single nucleotide variant Costello syndrome [RCV001312421] Chr11:533820 [GRCh38]
Chr11:533820 [GRCh37]
Chr11:11p15.5
uncertain significance
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_005343.4(HRAS):c.374T>C (p.Val125Ala) single nucleotide variant Noonan syndrome [RCV001261052] Chr11:533529 [GRCh38]
Chr11:533529 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.358C>G (p.Leu120Val) single nucleotide variant Costello syndrome [RCV001324745] Chr11:533545 [GRCh38]
Chr11:533545 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.506G>T (p.Arg169Leu) single nucleotide variant Costello syndrome [RCV001338600] Chr11:532700 [GRCh38]
Chr11:532700 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.427G>A (p.Glu143Lys) single nucleotide variant Costello syndrome [RCV001320813] Chr11:533476 [GRCh38]
Chr11:533476 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.245T>C (p.Phe82Ser) single nucleotide variant Costello syndrome [RCV001306208] Chr11:533811 [GRCh38]
Chr11:533811 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.484G>A (p.Glu162Lys) single nucleotide variant Costello syndrome [RCV001337613] Chr11:532722 [GRCh38]
Chr11:532722 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.203G>T (p.Arg68Leu) single nucleotide variant Costello syndrome [RCV001321198] Chr11:533853 [GRCh38]
Chr11:533853 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.560T>C (p.Val187Ala) single nucleotide variant Costello syndrome [RCV001309436] Chr11:532646 [GRCh38]
Chr11:532646 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.379T>C (p.Ser127Pro) single nucleotide variant Costello syndrome [RCV001350388] Chr11:533524 [GRCh38]
Chr11:533524 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.202C>G (p.Arg68Gly) single nucleotide variant Costello syndrome [RCV001372298] Chr11:533854 [GRCh38]
Chr11:533854 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.517C>T (p.Pro173Ser) single nucleotide variant Costello syndrome [RCV001325045] Chr11:532689 [GRCh38]
Chr11:532689 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.291-3C>T single nucleotide variant Costello syndrome [RCV001305262] Chr11:533615 [GRCh38]
Chr11:533615 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.211T>C (p.Tyr71His) single nucleotide variant Costello syndrome [RCV001370190] Chr11:533845 [GRCh38]
Chr11:533845 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.-2C>A single nucleotide variant not specified [RCV001328343] Chr11:534324 [GRCh38]
Chr11:534324 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.426C>A (p.Ile142=) single nucleotide variant Costello syndrome [RCV001324473] Chr11:533477 [GRCh38]
Chr11:533477 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.329C>T (p.Pro110Leu) single nucleotide variant Costello syndrome [RCV001372946] Chr11:533574 [GRCh38]
Chr11:533574 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.261C>T (p.Thr87=) single nucleotide variant Costello syndrome [RCV001415096] Chr11:533795 [GRCh38]
Chr11:533795 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.101C>T (p.Pro34Leu) single nucleotide variant Costello syndrome [RCV001360851] Chr11:534222 [GRCh38]
Chr11:534222 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.108dup (p.Glu37fs) duplication Costello syndrome [RCV001371797] Chr11:534214..534215 [GRCh38]
Chr11:534214..534215 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.463G>A (p.Ala155Thr) single nucleotide variant Costello syndrome [RCV001373169] Chr11:532743 [GRCh38]
Chr11:532743 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.545T>C (p.Met182Thr) single nucleotide variant Costello syndrome [RCV001341872] Chr11:532661 [GRCh38]
Chr11:532661 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.515A>G (p.Asn172Ser) single nucleotide variant Costello syndrome [RCV001364047] Chr11:532691 [GRCh38]
Chr11:532691 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.469T>C (p.Tyr157His) single nucleotide variant Costello syndrome [RCV001305343] Chr11:532737 [GRCh38]
Chr11:532737 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.424A>G (p.Ile142Val) single nucleotide variant Costello syndrome [RCV001351824] Chr11:533479 [GRCh38]
Chr11:533479 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.497A>G (p.His166Arg) single nucleotide variant Costello syndrome [RCV001318591] Chr11:532709 [GRCh38]
Chr11:532709 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.307G>A (p.Val103Met) single nucleotide variant Costello syndrome [RCV001321698] Chr11:533596 [GRCh38]
Chr11:533596 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.536C>T (p.Pro179Leu) single nucleotide variant Costello syndrome [RCV001360423] Chr11:532670 [GRCh38]
Chr11:532670 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.361G>A (p.Ala121Thr) single nucleotide variant Costello syndrome [RCV001338691] Chr11:533542 [GRCh38]
Chr11:533542 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.391C>G (p.Gln131Glu) single nucleotide variant Costello syndrome [RCV001321875] Chr11:533512 [GRCh38]
Chr11:533512 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.269T>C (p.Phe90Ser) single nucleotide variant Costello syndrome [RCV001307584] Chr11:533787 [GRCh38]
Chr11:533787 [GRCh37]
Chr11:11p15.5
uncertain significance
NC_000011.9:g.(?_298501)_(4113028_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001316682] Chr11:298501..4113028 [GRCh37]
Chr11:11p15.5-15.4
uncertain significance
NM_005343.4(HRAS):c.542G>A (p.Cys181Tyr) single nucleotide variant Costello syndrome [RCV001346242] Chr11:532664 [GRCh38]
Chr11:532664 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.260C>T (p.Thr87Ile) single nucleotide variant Costello syndrome [RCV001347584] Chr11:533796 [GRCh38]
Chr11:533796 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.134T>A (p.Val45Asp) single nucleotide variant Costello syndrome [RCV001335259] Chr11:533922 [GRCh38]
Chr11:533922 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.479T>C (p.Val160Ala) single nucleotide variant Costello syndrome [RCV001319495] Chr11:532727 [GRCh38]
Chr11:532727 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.386A>G (p.Gln129Arg) single nucleotide variant Costello syndrome [RCV001329395] Chr11:533517 [GRCh38]
Chr11:533517 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.138T>G (p.Ile46Met) single nucleotide variant Costello syndrome [RCV001297540] Chr11:533918 [GRCh38]
Chr11:533918 [GRCh37]
Chr11:11p15.5
uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:10701-5080415)x2 copy number gain See cases [RCV001310286] Chr11:10701..5080415 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
NM_005343.4(HRAS):c.404G>A (p.Arg135Gln) single nucleotide variant Costello syndrome [RCV001298446] Chr11:533499 [GRCh38]
Chr11:533499 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.370A>G (p.Thr124Ala) single nucleotide variant Costello syndrome [RCV001351593] Chr11:533533 [GRCh38]
Chr11:533533 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_005343.4(HRAS):c.99C>T (p.Asp33=) single nucleotide variant Costello syndrome [RCV001413845] Chr11:534224 [GRCh38]
Chr11:534224 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.390T>G (p.Ala130=) single nucleotide variant Costello syndrome [RCV001402800] Chr11:533513 [GRCh38]
Chr11:533513 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.399C>T (p.Leu133=) single nucleotide variant Costello syndrome [RCV001400583] Chr11:533504 [GRCh38]
Chr11:533504 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.222C>G (p.Thr74=) single nucleotide variant Costello syndrome [RCV001429768] Chr11:533834 [GRCh38]
Chr11:533834 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.159G>A (p.Leu53=) single nucleotide variant Costello syndrome [RCV001404417] Chr11:533897 [GRCh38]
Chr11:533897 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.375G>C (p.Val125=) single nucleotide variant Costello syndrome [RCV001407667] Chr11:533528 [GRCh38]
Chr11:533528 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.414C>A (p.Gly138=) single nucleotide variant Costello syndrome [RCV001444684] Chr11:533489 [GRCh38]
Chr11:533489 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.318G>A (p.Ser106=) single nucleotide variant Costello syndrome [RCV001442126] Chr11:533585 [GRCh38]
Chr11:533585 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.123G>C (p.Arg41=) single nucleotide variant Costello syndrome [RCV001447692] Chr11:533933 [GRCh38]
Chr11:533933 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.291-10C>T single nucleotide variant Costello syndrome [RCV001440352] Chr11:533622 [GRCh38]
Chr11:533622 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.483T>C (p.Arg161=) single nucleotide variant Costello syndrome [RCV001411333] Chr11:532723 [GRCh38]
Chr11:532723 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.198C>T (p.Ala66=) single nucleotide variant Costello syndrome [RCV001438160] Chr11:533858 [GRCh38]
Chr11:533858 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.147G>A (p.Glu49=) single nucleotide variant Costello syndrome [RCV001448313] Chr11:533909 [GRCh38]
Chr11:533909 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.15G>A (p.Lys5=) single nucleotide variant Costello syndrome [RCV001416541] Chr11:534308 [GRCh38]
Chr11:534308 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.288C>T (p.Tyr96=) single nucleotide variant Costello syndrome [RCV001445773] Chr11:533768 [GRCh38]
Chr11:533768 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.420C>T (p.Pro140=) single nucleotide variant Costello syndrome [RCV001411688] Chr11:533483 [GRCh38]
Chr11:533483 [GRCh37]
Chr11:11p15.5
likely benign
NM_005343.4(HRAS):c.438C>A (p.Ala146=) single nucleotide variant Costello syndrome [RCV001432469] Chr11:533465 [GRCh38]
Chr11:533465 [GRCh37]
Chr11:11p15.5