RASA1 (RAS p21 protein activator 1) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: RASA1 (RAS p21 protein activator 1) Homo sapiens
Analyze
Symbol: RASA1
Name: RAS p21 protein activator 1
RGD ID: 732468
HGNC Page HGNC:9871
Description: Enables several functions, including GTPase activator activity; GTPase binding activity; and phosphotyrosine residue binding activity. Involved in several processes, including blood vessel morphogenesis; negative regulation of cell-matrix adhesion; and regulation of actin filament polymerization. Predicted to be located in cytosol. Implicated in arteriovenous malformation and basal cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CM-AVM; CMAVM; CMAVM1; DKFZp434N071; GAP; GTPase-activating protein; p120; p120GAP; p120RASGAP; PKWS; ras GTPase-activating protein 1; RAS p21 protein activator (GTPase activating protein) 1; RASA; RASGAP; triphosphatase-activating protein
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
GRCh38587,267,883 - 87,391,916 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl587,267,883 - 87,391,931 (+)EnsemblGRCh38hg38GRCh38
GRCh37586,563,700 - 86,687,733 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36586,599,907 - 86,723,489 (+)NCBINCBI36Build 36hg18NCBI36
Build 34586,600,521 - 86,723,488NCBI
Celera582,456,373 - 82,579,983 (+)NCBICelera
Cytogenetic Map5q14.3NCBI
HuRef581,768,403 - 81,891,908 (+)NCBIHuRef
CHM1_1585,997,132 - 86,120,771 (+)NCBICHM1_1
T2T-CHM13v2.0587,749,006 - 87,873,021 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-taxifolin  (EXP)
1,2-dimethylhydrazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
aristolochic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
cadmium sulfate  (ISO)
caffeine  (EXP)
carbamazepine  (EXP)
cisplatin  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
coumestrol  (EXP)
crocidolite asbestos  (EXP,ISO)
dexamethasone  (EXP,ISO)
dibutyl phthalate  (ISO)
dichlorine  (ISO)
diclofenac  (EXP)
disulfiram  (EXP)
doxorubicin  (ISO)
epoxiconazole  (ISO)
fenthion  (ISO)
finasteride  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (EXP,ISO)
fulvestrant  (EXP)
GTP  (EXP)
indometacin  (EXP)
irinotecan  (EXP)
isoprenaline  (ISO)
ivermectin  (EXP)
ketamine  (ISO)
lipopolysaccharide  (EXP)
methidathion  (ISO)
miconazole  (ISO)
mitoxantrone  (EXP)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (EXP)
phenethyl isothiocyanate  (ISO)
phenobarbital  (ISO)
PhIP  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
quercetin  (EXP)
rac-lactic acid  (EXP)
raloxifene  (ISO)
rofecoxib  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
sodium arsenite  (EXP)
sodium fluoride  (ISO)
sulindac  (ISO)
sunitinib  (EXP)
tamoxifen  (EXP)
temozolomide  (EXP)
testosterone  (EXP)
thioacetamide  (ISO)
topotecan  (ISO)
trichostatin A  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IEA,NAS)
cytosol  (ISO,TAS)
membrane  (ISO)
nuclear membrane  (ISO)
plasma membrane  (IEA,ISO)
ruffle  (IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal B-type natriuretic peptide level  (IAGP)
Abnormal femoral metaphysis morphology  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal lymphatic vessel morphology  (IAGP)
Abnormality of the lymphatic system  (IAGP)
Abnormality of the musculature of the limbs  (IAGP)
Arteriovenous fistula  (IAGP)
Autosomal dominant inheritance  (IAGP)
Back pain  (IAGP)
Basal cell carcinoma  (IAGP)
Bounding pulse  (IAGP)
Capillary hemangioma  (IAGP)
Capillary malformation  (IAGP)
Cerebral arteriovenous malformation  (IAGP)
Cerebral ischemia  (IAGP)
Cerebral venous angioma  (IAGP)
Chest pain  (IAGP)
Chylothorax  (IAGP)
Conus terminalis arteriovenous malformation  (IAGP)
Disseminated intravascular coagulation  (IAGP)
Distal sensory impairment  (IAGP)
Dural ectasia  (IAGP)
Epistaxis  (IAGP)
Erythematous plaque  (IAGP)
Facial capillary hemangioma  (IAGP)
Functional motor deficit  (IAGP)
Headache  (IAGP)
Hemangiomatosis  (IAGP)
Hemihypertrophy of lower limb  (IAGP)
High-output congestive heart failure  (IAGP)
Hydrocephalus  (IAGP)
Hypertrophy of the upper limb  (IAGP)
Hypopigmented macule  (IAGP)
Lower limb muscle weakness  (IAGP)
Lower limb pain  (IAGP)
Lymphedema  (IAGP)
Migraine  (IAGP)
Muscle hypertrophy of the lower extremities  (IAGP)
Myelopathy  (IAGP)
Neck pain  (IAGP)
Nephrotic syndrome  (IAGP)
Neurogenic bladder  (IAGP)
Nevus flammeus  (IAGP)
Nonimmune hydrops fetalis  (IAGP)
Paraplegia  (IAGP)
Peripheral arteriovenous fistula  (IAGP)
Prominent superficial blood vessels  (IAGP)
Scaling skin  (IAGP)
Seizure  (IAGP)
Skin ulcer  (IAGP)
Spinal arteriovenous malformation  (IAGP)
Subarachnoid hemorrhage  (IAGP)
Telangiectasia  (IAGP)
Urinary retention  (IAGP)
Varicose veins  (IAGP)
Vascular dilatation  (IAGP)
Vascular tortuosity  (IAGP)
Vein of Galen aneurysmal malformation  (IAGP)
Venous malformation  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. RASA1: variable phenotype with capillary and arteriovenous malformations. Boon LM, etal., Curr Opin Genet Dev. 2005 Jun;15(3):265-9.
2. Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Eerola I, etal., Am J Hum Genet 2003 Dec;73(6):1240-9.
3. Nonsense mutations in the C-terminal SH2 region of the GTPase activating protein (GAP) gene in human tumours. Friedman E, etal., Nat Genet 1993 Nov;5(3):242-7.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
6. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
7. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
8. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
9. Sex- and estrogen-dependent regulation of a miRNA network in the healthy and hypertrophied heart. Queiros AM, etal., Int J Cardiol. 2013 Nov 20;169(5):331-8. doi: 10.1016/j.ijcard.2013.09.002. Epub 2013 Oct 5.
10. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
12. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1314164   PMID:1331107   PMID:1336372   PMID:1347942   PMID:1374686   PMID:1375321   PMID:1383690   PMID:1385407   PMID:1512257   PMID:1544885   PMID:1545818   PMID:1553544  
PMID:1571536   PMID:1581965   PMID:1633149   PMID:1689011   PMID:1717825   PMID:1756860   PMID:1850098   PMID:2122974   PMID:2123878   PMID:2157284   PMID:2164710   PMID:2172781  
PMID:2173144   PMID:2176151   PMID:2188736   PMID:2307479   PMID:2574500   PMID:2821624   PMID:2833817   PMID:3201259   PMID:7478585   PMID:7537265   PMID:7544435   PMID:7628625  
PMID:7642582   PMID:7682895   PMID:7689724   PMID:7691175   PMID:7760813   PMID:7782336   PMID:8006063   PMID:8084603   PMID:8137811   PMID:8155326   PMID:8189062   PMID:8270251  
PMID:8321198   PMID:8344248   PMID:8360177   PMID:8382774   PMID:8384556   PMID:8395016   PMID:8419471   PMID:8537347   PMID:8570203   PMID:8618896   PMID:8647858   PMID:8649363  
PMID:8663024   PMID:8766817   PMID:8798684   PMID:8890167   PMID:8955277   PMID:8977179   PMID:9008161   PMID:9034330   PMID:9079622   PMID:9113414   PMID:9169421   PMID:9174053  
PMID:9218456   PMID:9219684   PMID:9233798   PMID:9478921   PMID:9564850   PMID:9603468   PMID:9632780   PMID:9674711   PMID:9743338   PMID:9822717   PMID:10092539   PMID:10187839  
PMID:10200531   PMID:10202139   PMID:10319320   PMID:10428862   PMID:10508618   PMID:10571081   PMID:10644995   PMID:10669731   PMID:10688886   PMID:10697503   PMID:10708762   PMID:10713673  
PMID:10769036   PMID:10790433   PMID:10799545   PMID:10822173   PMID:10899172   PMID:11071635   PMID:11116152   PMID:11331873   PMID:11350068   PMID:11389730   PMID:11536198   PMID:11551902  
PMID:11604231   PMID:11751853   PMID:11786539   PMID:11847220   PMID:11896619   PMID:11976319   PMID:12091389   PMID:12112020   PMID:12151397   PMID:12441060   PMID:12477932   PMID:12679785  
PMID:12730209   PMID:12730241   PMID:15010862   PMID:15041706   PMID:15077193   PMID:15121898   PMID:15151996   PMID:15187129   PMID:15489334   PMID:15504032   PMID:15542850   PMID:15574420  
PMID:15592455   PMID:15688026   PMID:15713673   PMID:16046410   PMID:16051609   PMID:16273093   PMID:16344560   PMID:16971514   PMID:17412687   PMID:18024870   PMID:18067320   PMID:18327598  
PMID:18363760   PMID:18446851   PMID:18556463   PMID:18761085   PMID:18784923   PMID:19012001   PMID:19151751   PMID:19435801   PMID:19578876   PMID:19773259   PMID:19786546   PMID:19843518  
PMID:20007727   PMID:20592250   PMID:20598684   PMID:20610402   PMID:20624904   PMID:20676106   PMID:20688547   PMID:20702649   PMID:20808760   PMID:20821215   PMID:21081503   PMID:21173776  
PMID:21348050   PMID:21368895   PMID:21460216   PMID:21646295   PMID:21664272   PMID:21768288   PMID:21832049   PMID:21900206   PMID:22200646   PMID:22205990   PMID:22342634   PMID:22949691  
PMID:22973453   PMID:22974441   PMID:23158644   PMID:23322774   PMID:23377640   PMID:23386617   PMID:23447049   PMID:23650393   PMID:23687085   PMID:23826368   PMID:23829194   PMID:24038909  
PMID:24347041   PMID:24412244   PMID:24443565   PMID:24465899   PMID:24600991   PMID:24728074   PMID:25040287   PMID:25202123   PMID:25246356   PMID:25394563   PMID:25663768   PMID:25733681  
PMID:25814554   PMID:25867276   PMID:25921289   PMID:26096958   PMID:26109071   PMID:26126858   PMID:26192947   PMID:26710849   PMID:26721396   PMID:26747707   PMID:26760575   PMID:26840794  
PMID:26969842   PMID:26993606   PMID:27101583   PMID:27752061   PMID:27767378   PMID:28086240   PMID:28108518   PMID:28179330   PMID:28611215   PMID:28687708   PMID:28798331   PMID:29024832  
PMID:29110021   PMID:29127119   PMID:29891884   PMID:29991678   PMID:30243714   PMID:30569149   PMID:30578106   PMID:30635911   PMID:30864691   PMID:31300548   PMID:31857500   PMID:31980649  
PMID:32296183   PMID:32540970   PMID:32588875   PMID:32605345   PMID:32776686   PMID:32814053   PMID:32900839   PMID:33118152   PMID:33961781   PMID:34173139   PMID:34238206   PMID:34238211  
PMID:34407391   PMID:34464226   PMID:34491620   PMID:35271311   PMID:35676246   PMID:35831314   PMID:35997118  


Genomics

Comparative Map Data
RASA1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38587,267,883 - 87,391,916 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl587,267,883 - 87,391,931 (+)EnsemblGRCh38hg38GRCh38
GRCh37586,563,700 - 86,687,733 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36586,599,907 - 86,723,489 (+)NCBINCBI36Build 36hg18NCBI36
Build 34586,600,521 - 86,723,488NCBI
Celera582,456,373 - 82,579,983 (+)NCBICelera
Cytogenetic Map5q14.3NCBI
HuRef581,768,403 - 81,891,908 (+)NCBIHuRef
CHM1_1585,997,132 - 86,120,771 (+)NCBICHM1_1
T2T-CHM13v2.0587,749,006 - 87,873,021 (+)NCBIT2T-CHM13v2.0
Rasa1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391385,362,818 - 85,437,605 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1385,362,899 - 85,437,249 (-)EnsemblGRCm39 Ensembl
GRCm381385,214,699 - 85,289,486 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1385,214,780 - 85,289,130 (-)EnsemblGRCm38mm10GRCm38
MGSCv371385,354,304 - 85,429,091 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361385,689,136 - 85,729,574 (-)NCBIMGSCv36mm8
Celera1387,446,946 - 87,523,497 (-)NCBICelera
Cytogenetic Map13C3NCBI
cM Map1345.05NCBI
Rasa1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2215,857,704 - 15,940,757 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl215,857,980 - 15,940,854 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx222,959,727 - 23,040,229 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0221,059,980 - 21,140,482 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0215,733,780 - 15,814,284 (-)NCBIRnor_WKY
Rnor_6.0213,617,021 - 13,696,531 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl213,616,822 - 13,696,426 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0213,470,580 - 13,551,782 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4214,203,815 - 14,287,824 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1214,124,183 - 14,208,193 (-)NCBI
Celera212,124,725 - 12,204,755 (-)NCBICelera
Cytogenetic Map2q11NCBI
Rasa1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541823,807,740 - 23,897,707 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541823,807,740 - 23,897,699 (-)NCBIChiLan1.0ChiLan1.0
RASA1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1528,115,159 - 28,239,854 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl528,115,159 - 28,240,321 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0527,980,907 - 28,104,368 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
RASA1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1321,068,182 - 21,177,288 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl321,054,930 - 21,176,757 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha322,433,878 - 22,542,367 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0320,976,854 - 21,085,576 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl320,963,599 - 21,086,379 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1320,947,976 - 21,056,165 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0320,910,527 - 21,018,703 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0321,202,248 - 21,310,549 (-)NCBIUU_Cfam_GSD_1.0
Rasa1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213176,687,034 - 176,786,016 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364695,839,743 - 5,932,021 (+)EnsemblSpeTri2.0
SpeTri2.0NW_0049364695,839,560 - 5,933,049 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RASA1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl294,878,911 - 94,993,450 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1294,879,615 - 94,992,725 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2297,399,815 - 97,512,972 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RASA1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1481,249,851 - 81,371,486 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl481,249,805 - 81,370,453 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604930,268,183 - 30,393,793 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rasa1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247436,788,108 - 6,882,223 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247436,750,476 - 6,882,556 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RASA1
559 total Variants
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR335hsa-miR-335-5pMirtarbaseexternal_infoLuciferase reporter assayNon-Functional MTI20065103
MIR132hsa-miR-132-3pMirtarbaseexternal_infoImmunoblot//Western blotFunctional MTI21868695
MIR31hsa-miR-31-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI23322774
MIR31hsa-miR-31-5pOncomiRDBexternal_infoNANA23322774

Predicted Target Of
Summary Value
Count of predictions:2191
Count of miRNA genes:773
Interacting mature miRNAs:885
Transcripts:ENST00000274376, ENST00000456692, ENST00000506290, ENST00000509953, ENST00000512763, ENST00000515800
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
STS-M23379  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37586,687,558 - 86,687,687UniSTSGRCh37
Build 36586,723,314 - 86,723,443RGDNCBI36
Celera582,579,808 - 82,579,937RGD
Cytogenetic Map5q13.3UniSTS
Cytogenetic Map5q13.3-q14UniSTS
HuRef581,891,723 - 81,891,852UniSTS
GeneMap99-GB4 RH Map5397.5UniSTS
RH69245  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37586,619,556 - 86,619,696UniSTSGRCh37
Build 36586,655,312 - 86,655,452RGDNCBI36
Celera582,511,806 - 82,511,946RGD
Cytogenetic Map5q13.3UniSTS
Cytogenetic Map5q14.3UniSTS
HuRef581,823,720 - 81,823,860UniSTS
GeneMap99-GB4 RH Map5397.57UniSTS
RH15818  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37586,635,288 - 86,635,393UniSTSGRCh37
Build 36586,671,044 - 86,671,149RGDNCBI36
Celera582,527,537 - 82,527,642RGD
Cytogenetic Map5q13.3UniSTS
HuRef581,839,452 - 81,839,557UniSTS
GeneMap99-GB4 RH Map5397.7UniSTS
RH93053  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37586,670,324 - 86,670,487UniSTSGRCh37
Build 36586,706,080 - 86,706,243RGDNCBI36
Celera582,562,574 - 82,562,737RGD
Cytogenetic Map5q13.3UniSTS
HuRef581,874,489 - 81,874,652UniSTS
GeneMap99-GB4 RH Map5397.5UniSTS
RH103694  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37586,682,010 - 86,682,167UniSTSGRCh37
Build 36586,717,766 - 86,717,923RGDNCBI36
Celera582,574,260 - 82,574,417RGD
Cytogenetic Map5q13.3UniSTS
HuRef581,886,175 - 81,886,332UniSTS
GeneMap99-GB4 RH Map5397.4UniSTS
RH104298  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37586,640,199 - 86,640,318UniSTSGRCh37
Build 36586,675,955 - 86,676,074RGDNCBI36
Celera582,532,448 - 82,532,567RGD
Cytogenetic Map5q13.3UniSTS
HuRef581,844,363 - 81,844,482UniSTS
GeneMap99-GB4 RH Map5397.5UniSTS
RH45809  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37586,586,919 - 86,587,051UniSTSGRCh37
Build 36586,622,675 - 86,622,807RGDNCBI36
Celera582,479,172 - 82,479,304RGD
Cytogenetic Map5q13.3UniSTS
HuRef581,791,086 - 81,791,218UniSTS
GeneMap99-GB4 RH Map5397.5UniSTS
RH78240  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37586,685,541 - 86,685,724UniSTSGRCh37
Build 36586,721,297 - 86,721,480RGDNCBI36
Celera582,577,791 - 82,577,974RGD
Cytogenetic Map5q13.3UniSTS
HuRef581,889,706 - 81,889,889UniSTS
GeneMap99-GB4 RH Map5397.5UniSTS
RH69527  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37586,687,556 - 86,687,635UniSTSGRCh37
Build 36586,723,312 - 86,723,391RGDNCBI36
Celera582,579,806 - 82,579,885RGD
Cytogenetic Map5q13.3UniSTS
Cytogenetic Map5q13.3-q14UniSTS
HuRef581,891,721 - 81,891,800UniSTS
GeneMap99-GB4 RH Map5392.41UniSTS
RASA1_8586  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37586,687,015 - 86,687,769UniSTSGRCh37
Build 36586,722,771 - 86,723,525RGDNCBI36
Celera582,579,265 - 82,580,019RGD
HuRef581,891,180 - 81,891,934UniSTS
WI-14548  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37586,685,443 - 86,685,560UniSTSGRCh37
Build 36586,721,199 - 86,721,316RGDNCBI36
Celera582,577,693 - 82,577,810RGD
Cytogenetic Map5q13.3UniSTS
HuRef581,889,608 - 81,889,725UniSTS
GeneMap99-GB4 RH Map5403.05UniSTS
Whitehead-RH Map5299.0UniSTS
STS-AA004311  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37586,570,263 - 86,570,512UniSTSGRCh37
Build 36586,606,019 - 86,606,268RGDNCBI36
Celera582,462,484 - 82,462,733RGD
Cytogenetic Map5q13.3UniSTS
HuRef581,774,595 - 81,774,844UniSTS
GeneMap99-GB4 RH Map5397.5UniSTS
1578  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37586,616,804 - 86,616,886UniSTSGRCh37
Build 36586,652,560 - 86,652,642RGDNCBI36
Celera582,509,054 - 82,509,136RGD
Cytogenetic Map5q13.3UniSTS
Cytogenetic Map5q14.3UniSTS
HuRef581,820,968 - 81,821,050UniSTS
GeneMap99-GB4 RH Map5403.15UniSTS
D5S2372  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37586,686,722 - 86,687,046UniSTSGRCh37
Build 36586,722,478 - 86,722,802RGDNCBI36
Celera582,578,972 - 82,579,296RGD
Cytogenetic Map5q13.3UniSTS
HuRef581,890,887 - 81,891,211UniSTS
Stanford-G3 RH Map53248.0UniSTS
GeneMap99-G3 RH Map53243.0UniSTS
STS-N22145  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37586,674,550 - 86,674,721UniSTSGRCh37
Build 36586,710,306 - 86,710,477RGDNCBI36
Celera582,566,800 - 82,566,971RGD
Cytogenetic Map5q13.3UniSTS
HuRef581,878,715 - 81,878,886UniSTS
GeneMap99-GB4 RH Map5397.4UniSTS
SGC30189  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37586,687,591 - 86,687,740UniSTSGRCh37
Build 36586,723,347 - 86,723,496RGDNCBI36
Celera582,579,841 - 82,579,990RGD
Cytogenetic Map5q13.3UniSTS
Cytogenetic Map5q13.3-q14UniSTS
HuRef581,891,756 - 81,891,905UniSTS
GeneMap99-GB4 RH Map5397.5UniSTS
Whitehead-RH Map5291.9UniSTS
RASA1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37586,687,274 - 86,687,478UniSTSGRCh37
Celera582,579,524 - 82,579,728UniSTS
HuRef581,891,439 - 81,891,643UniSTS


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 adipose tissue appendage entire extraembryonic component
High
Medium 2197 1531 1316 265 1241 111 3581 988 2684 299 1392 1583 167 1186 2034 4
Low 237 1444 409 357 700 353 775 1206 1029 119 58 26 4 18 754 1
Below cutoff 1 9 1 10 1 12 1 7 3 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC018754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC035142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC126776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC054891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC070063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC107870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC131816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF528258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA863496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M23379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M23612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000274376   ⟹   ENSP00000274376
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl587,267,883 - 87,391,916 (+)Ensembl
RefSeq Acc Id: ENST00000456692   ⟹   ENSP00000411221
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl587,268,933 - 87,391,931 (+)Ensembl
RefSeq Acc Id: ENST00000506290   ⟹   ENSP00000420905
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl587,268,944 - 87,391,129 (+)Ensembl
RefSeq Acc Id: ENST00000509953
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl587,337,972 - 87,369,901 (+)Ensembl
RefSeq Acc Id: ENST00000512763   ⟹   ENSP00000422008
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl587,268,944 - 87,391,099 (+)Ensembl
RefSeq Acc Id: ENST00000515800   ⟹   ENSP00000423395
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl587,267,888 - 87,391,919 (+)Ensembl
RefSeq Acc Id: NM_002890   ⟹   NP_002881
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38587,267,883 - 87,391,916 (+)NCBI
GRCh37586,564,070 - 86,687,743 (+)NCBI
Build 36586,599,907 - 86,723,489 (+)NCBI Archive
HuRef581,768,403 - 81,891,908 (+)NCBI
CHM1_1585,997,132 - 86,120,771 (+)NCBI
T2T-CHM13v2.0587,749,006 - 87,873,021 (+)NCBI
Sequence:
RefSeq Acc Id: NM_022650   ⟹   NP_072179
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38587,268,937 - 87,391,916 (+)NCBI
GRCh37586,564,070 - 86,687,743 (+)NCBI
Build 36586,600,522 - 86,723,489 (+)NCBI Archive
HuRef581,768,403 - 81,891,908 (+)NCBI
CHM1_1585,997,803 - 86,120,771 (+)NCBI
T2T-CHM13v2.0587,750,060 - 87,873,021 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002881   ⟸   NM_002890
- Peptide Label: isoform 1
- UniProtKB: Q9UDI1 (UniProtKB/Swiss-Prot),   P20936 (UniProtKB/Swiss-Prot),   Q59GK3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_072179   ⟸   NM_022650
- Peptide Label: isoform 2
- UniProtKB: P20936 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000420905   ⟸   ENST00000506290
RefSeq Acc Id: ENSP00000411221   ⟸   ENST00000456692
RefSeq Acc Id: ENSP00000274376   ⟸   ENST00000274376
RefSeq Acc Id: ENSP00000422008   ⟸   ENST00000512763
RefSeq Acc Id: ENSP00000423395   ⟸   ENST00000515800
Protein Domains
C2   PH   Ras-GAP   SH2   SH3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P20936-F1-model_v2 AlphaFold P20936 1-1047 view protein structure

Promoters
RGD ID:6803494
Promoter ID:HG_KWN:50620
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000274376,   NM_022650,   UC010JAV.1,   UC010JAW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36586,598,921 - 86,600,327 (+)MPROMDB
RGD ID:6870280
Promoter ID:EPDNEW_H8192
Type:initiation region
Name:RASA1_1
Description:RAS p21 protein activator 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8193  EPDNEW_H8194  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38587,267,883 - 87,267,943EPDNEW
RGD ID:6870056
Promoter ID:EPDNEW_H8193
Type:initiation region
Name:RASA1_3
Description:RAS p21 protein activator 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8194  EPDNEW_H8192  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38587,268,269 - 87,268,329EPDNEW
RGD ID:6870058
Promoter ID:EPDNEW_H8194
Type:initiation region
Name:RASA1_2
Description:RAS p21 protein activator 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8193  EPDNEW_H8192  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38587,268,962 - 87,269,022EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002890.3(RASA1):c.162G>C (p.Glu54Asp) single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV001158033]|Capillary malformation-arteriovenous malformation syndrome [RCV000549855] Chr5:87268613 [GRCh38]
Chr5:86564430 [GRCh37]
Chr5:5q14.3
benign|likely benign
NM_002890.3(RASA1):c.2622T>C (p.Tyr874_Gly875=) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV000545886]|not provided [RCV001580513] Chr5:87380527 [GRCh38]
Chr5:86676344 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.617T>C (p.Ile206Thr) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV000547516]|not provided [RCV001591228] Chr5:87331425 [GRCh38]
Chr5:86627242 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.2461A>G (p.Ile821Val) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002231770] Chr5:87378512 [GRCh38]
Chr5:86674329 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.475_476del (p.Leu159fs) microsatellite Capillary malformation-arteriovenous malformation 1 [RCV000017370]|Capillary malformation-arteriovenous malformation syndrome [RCV002228029]|not provided [RCV000200157] Chr5:87268922..87268923 [GRCh38]
Chr5:86564739..86564740 [GRCh37]
Chr5:5q14.3
pathogenic|likely pathogenic
NM_002890.3(RASA1):c.829-9G>A single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000017374] Chr5:87333258 [GRCh38]
Chr5:86629075 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.2252_2255dup (p.Ala753fs) duplication Capillary malformation-arteriovenous malformation 1 [RCV000017375] Chr5:87376947..87376948 [GRCh38]
Chr5:86672764..86672765 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.917T>C (p.Met306Thr) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002232789] Chr5:87337991 [GRCh38]
Chr5:86633808 [GRCh37]
Chr5:5q14.3
uncertain significance
NC_000005.10:g.(?_87268432)_(87353255_?)del deletion Capillary malformation-arteriovenous malformation 1 [RCV000524974] Chr5:87268432..87353255 [GRCh38]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.3109_3112del (p.Gln1037fs) deletion Capillary malformation-arteriovenous malformation syndrome [RCV000546260] Chr5:87390845..87390848 [GRCh38]
Chr5:86686662..86686665 [GRCh37]
Chr5:5q14.3
likely pathogenic
NM_002890.3(RASA1):c.1644T>C (p.Phe548_Ser549=) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002231767] Chr5:87369846 [GRCh38]
Chr5:86665663 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.656C>G (p.Ser219Ter) single nucleotide variant Basal cell carcinoma, susceptibility to, 1 [RCV000763547]|Capillary malformation-arteriovenous malformation syndrome [RCV002231775] Chr5:87331464 [GRCh38]
Chr5:86627281 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.1193G>T (p.Arg398Leu) single nucleotide variant Basal cell carcinoma, somatic [RCV000017367] Chr5:87349304 [GRCh38]
Chr5:86645121 [GRCh37]
Chr5:5q14.3
pathogenic|other
NM_002890.3(RASA1):c.1198A>G (p.Lys400Glu) single nucleotide variant Basal cell carcinoma, somatic [RCV000017368] Chr5:87349309 [GRCh38]
Chr5:86645126 [GRCh37]
Chr5:5q14.3
pathogenic|other
NM_002890.3(RASA1):c.1201A>G (p.Ile401Val) single nucleotide variant Basal cell carcinoma, somatic [RCV000017369] Chr5:87349312 [GRCh38]
Chr5:86645129 [GRCh37]
Chr5:5q14.3
pathogenic|other
NM_002890.3(RASA1):c.1619G>A (p.Cys540Tyr) single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000017372] Chr5:87369821 [GRCh38]
Chr5:86665638 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.853C>T (p.Arg285Ter) single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000017373] Chr5:87333291 [GRCh38]
Chr5:86629108 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.2(RASA1):c.2185-35C>T single nucleotide variant Lung cancer [RCV000096255] Chr5:87376846 [GRCh38]
Chr5:86672663 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.2(RASA1):c.2758+617A>G single nucleotide variant Lung cancer [RCV000096256] Chr5:87384397 [GRCh38]
Chr5:86680214 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.1780A>G (p.Ser594Gly) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV001229366] Chr5:87374166 [GRCh38]
Chr5:86669983 [GRCh37]
Chr5:5q14.3
uncertain significance
GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)x1 copy number loss See cases [RCV000050945] Chr5:87376883..101524443 [GRCh38]
Chr5:86672700..100860147 [GRCh37]
Chr5:86708456..100888046 [NCBI36]
Chr5:5q14.3-21.1
pathogenic
GRCh38/hg38 5q14.3(chr5:85876480-88958682)x1 copy number loss See cases [RCV000051010] Chr5:85876480..88958682 [GRCh38]
Chr5:85172298..88254499 [GRCh37]
Chr5:85208054..88290255 [NCBI36]
Chr5:5q14.3
pathogenic
GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3 copy number gain See cases [RCV000051839] Chr5:74163186..110809453 [GRCh38]
Chr5:73459011..110145153 [GRCh37]
Chr5:73494767..110173052 [NCBI36]
Chr5:5q13.3-22.1
pathogenic
GRCh38/hg38 5q14.3-15(chr5:87124838-93383020)x3 copy number gain See cases [RCV000051840] Chr5:87124838..93383020 [GRCh38]
Chr5:86420655..92718726 [GRCh37]
Chr5:86456411..92744482 [NCBI36]
Chr5:5q14.3-15
pathogenic
GRCh38/hg38 5q14.3(chr5:86343721-88779835)x1 copy number loss See cases [RCV000053475] Chr5:86343721..88779835 [GRCh38]
Chr5:85639539..88075652 [GRCh37]
Chr5:85675295..88111408 [NCBI36]
Chr5:5q14.3
pathogenic
GRCh38/hg38 5q14.3(chr5:86743723-92337264)x1 copy number loss See cases [RCV000053477] Chr5:86743723..92337264 [GRCh38]
Chr5:86039540..91633081 [GRCh37]
Chr5:86075296..91668837 [NCBI36]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.473C>G (p.Ser158Cys) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV001348277] Chr5:87268924 [GRCh38]
Chr5:86564741 [GRCh37]
Chr5:5q14.3
uncertain significance
GRCh38/hg38 5q14.3-21.1(chr5:85966055-101335711)x1 copy number loss See cases [RCV000135748] Chr5:85966055..101335711 [GRCh38]
Chr5:85261873..100671415 [GRCh37]
Chr5:85297629..100699314 [NCBI36]
Chr5:5q14.3-21.1
pathogenic
GRCh38/hg38 5q14.3(chr5:87191898-89957449)x1 copy number loss See cases [RCV000135596] Chr5:87191898..89957449 [GRCh38]
Chr5:86487715..89253266 [GRCh37]
Chr5:86523471..89289022 [NCBI36]
Chr5:5q14.3
pathogenic
GRCh38/hg38 5q14.3(chr5:86658611-87608243)x1 copy number loss See cases [RCV000140403] Chr5:86658611..87608243 [GRCh38]
Chr5:85954428..86904060 [GRCh37]
Chr5:85990184..86939816 [NCBI36]
Chr5:5q14.3
pathogenic
GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1 copy number loss See cases [RCV000139656] Chr5:84603580..111435081 [GRCh38]
Chr5:83899398..110770779 [GRCh37]
Chr5:83935154..110798678 [NCBI36]
Chr5:5q14.3-22.1
pathogenic
GRCh38/hg38 5q14.3(chr5:86766959-92148845)x1 copy number loss See cases [RCV000141419] Chr5:86766959..92148845 [GRCh38]
Chr5:86062776..91444662 [GRCh37]
Chr5:86098532..91480418 [NCBI36]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.2184+9_2184+10insGTTAAA insertion not specified [RCV000197148] Chr5:87376574..87376575 [GRCh38]
Chr5:86672391..86672392 [GRCh37]
Chr5:5q14.3
benign
NM_002890.3(RASA1):c.2690+1G>A single nucleotide variant not provided [RCV000197942] Chr5:87380596 [GRCh38]
Chr5:86676413 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.1777-14T>A single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000400118]|Capillary malformation-arteriovenous malformation syndrome [RCV002054311]|Parkes Weber syndrome [RCV000301492]|not specified [RCV000198079] Chr5:87374149 [GRCh38]
Chr5:86669966 [GRCh37]
Chr5:5q14.3
benign
NM_002890.3(RASA1):c.296C>T (p.Ala99Val) single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000351057]|Capillary malformation-arteriovenous malformation syndrome [RCV001083983]|Parkes Weber syndrome [RCV000279612]|not provided [RCV001812199]|not specified [RCV000199589] Chr5:87268747 [GRCh38]
Chr5:86564564 [GRCh37]
Chr5:5q14.3
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_002890.3(RASA1):c.618_621del (p.Ile206fs) deletion not provided [RCV000196235] Chr5:87331426..87331429 [GRCh38]
Chr5:86627243..86627246 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.2131C>T (p.Arg711Ter) single nucleotide variant Basal cell carcinoma, susceptibility to, 1 [RCV000763548]|Capillary malformation-arteriovenous malformation syndrome [RCV001853161]|not provided [RCV000196439] Chr5:87376512 [GRCh38]
Chr5:86672329 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.543G>A (p.Trp181Ter) single nucleotide variant Angioosteohypertrophic syndrome [RCV001526499] Chr5:87331351 [GRCh38]
Chr5:86627168 [GRCh37]
Chr5:5q14.3
pathogenic
GRCh37/hg19 5q14.3(chr5:85913910-87524304)x3 copy number gain Ductal breast carcinoma [RCV000207184] Chr5:85913910..87524304 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.2638T>A (p.Ser880Thr) single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000230507]|Capillary malformation-arteriovenous malformation syndrome [RCV001322302] Chr5:87380543 [GRCh38]
Chr5:86676360 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.2528C>A (p.Thr843Asn) single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000229857]|Capillary malformation-arteriovenous malformation syndrome [RCV000858226]|Parkes Weber syndrome [RCV000325671]|not provided [RCV001561210] Chr5:87379775 [GRCh38]
Chr5:86675592 [GRCh37]
Chr5:5q14.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_002890.3(RASA1):c.2529dup (p.Asn844Ter) duplication Capillary malformation-arteriovenous malformation 1 [RCV000232710]|Capillary malformation-arteriovenous malformation syndrome [RCV001382360] Chr5:87379775..87379776 [GRCh38]
Chr5:86675592..86675593 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.1651G>A (p.Glu551Lys) single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000227007]|Capillary malformation-arteriovenous malformation syndrome [RCV001363115] Chr5:87369853 [GRCh38]
Chr5:86665670 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.1290G>A (p.Gln430_Ile431=) single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000233174]|Capillary malformation-arteriovenous malformation syndrome [RCV001449154] Chr5:87353193 [GRCh38]
Chr5:86649010 [GRCh37]
Chr5:5q14.3
likely benign|uncertain significance
NM_002890.3(RASA1):c.2909_2913dup (p.Asp972delinsPheTer) duplication Capillary malformation-arteriovenous malformation syndrome [RCV002229344] Chr5:87386886..87386887 [GRCh38]
Chr5:86682703..86682704 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.304G>T (p.Val102Leu) single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV001281686]|Capillary malformation-arteriovenous malformation syndrome [RCV001082060]|not provided [RCV000429159] Chr5:87268755 [GRCh38]
Chr5:86564572 [GRCh37]
Chr5:5q14.3
benign|likely benign
NM_002890.3(RASA1):c.2795T>C (p.Leu932Ser) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002231772] Chr5:87385337 [GRCh38]
Chr5:86681154 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.2603C>T (p.Pro868Leu) single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000285687]|Capillary malformation-arteriovenous malformation syndrome [RCV001034623]|Parkes Weber syndrome [RCV000343253]|not provided [RCV000681077] Chr5:87379850 [GRCh38]
Chr5:86675667 [GRCh37]
Chr5:5q14.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002890.3(RASA1):c.224G>C (p.Gly75Ala) single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000321017]|Capillary malformation-arteriovenous malformation syndrome [RCV001088338]|Parkes Weber syndrome [RCV000268284]|not provided [RCV001812903] Chr5:87268675 [GRCh38]
Chr5:86564492 [GRCh37]
Chr5:5q14.3
benign|likely benign
NM_002890.3(RASA1):c.*818T>C single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000316838]|Parkes Weber syndrome [RCV000266380] Chr5:87391701 [GRCh38]
Chr5:86687518 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.2608T>C (p.Leu870_Arg871=) single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000376841]|Capillary malformation-arteriovenous malformation syndrome [RCV000869901]|Parkes Weber syndrome [RCV000284664] Chr5:87380513 [GRCh38]
Chr5:86676330 [GRCh37]
Chr5:5q14.3
likely benign|uncertain significance
NM_002890.3(RASA1):c.1777-15_1777-14insA insertion Capillary malformation-arteriovenous malformation 1 [RCV000341189]|Capillary malformation-arteriovenous malformation syndrome [RCV002061297]|Parkes Weber syndrome [RCV000302639]|not provided [RCV001533887] Chr5:87374148..87374149 [GRCh38]
Chr5:86669965..86669966 [GRCh37]
Chr5:5q14.3
benign|likely benign
NM_002890.3(RASA1):c.-198G>T single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000315415]|Parkes Weber syndrome [RCV000367624]|not provided [RCV001584077] Chr5:87268254 [GRCh38]
Chr5:86564071 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.612T>C (p.Tyr204_Leu205=) single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000398495]|Capillary malformation-arteriovenous malformation syndrome [RCV000869395]|Parkes Weber syndrome [RCV000304263] Chr5:87331420 [GRCh38]
Chr5:86627237 [GRCh37]
Chr5:5q14.3
benign|likely benign
NM_002890.3(RASA1):c.*97A>G single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000270378]|Parkes Weber syndrome [RCV000323019]|not provided [RCV001584078] Chr5:87390980 [GRCh38]
Chr5:86686797 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.2691-11C>T single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000337398]|Capillary malformation-arteriovenous malformation syndrome [RCV002058542]|Parkes Weber syndrome [RCV000396388]|not provided [RCV001591020] Chr5:87383702 [GRCh38]
Chr5:86679519 [GRCh37]
Chr5:5q14.3
benign|likely benign
NM_002890.3(RASA1):c.209A>G (p.Glu70Gly) single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000360391]|Capillary malformation-arteriovenous malformation syndrome [RCV001087155]|Parkes Weber syndrome [RCV000326908]|not provided [RCV000757713] Chr5:87268660 [GRCh38]
Chr5:86564477 [GRCh37]
Chr5:5q14.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_002890.3(RASA1):c.*543A>G single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000393368]|Parkes Weber syndrome [RCV000307148] Chr5:87391426 [GRCh38]
Chr5:86687243 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.1494G>A (p.Glu498_Gly499=) single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000397814]|Capillary malformation-arteriovenous malformation syndrome [RCV000865658]|Parkes Weber syndrome [RCV000289574] Chr5:87363388 [GRCh38]
Chr5:86659205 [GRCh37]
Chr5:5q14.3
benign|likely benign
NM_002890.3(RASA1):c.1394G>A (p.Arg465His) single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000348020]|Capillary malformation-arteriovenous malformation syndrome [RCV001079422]|Parkes Weber syndrome [RCV000290542]|not provided [RCV001812904] Chr5:87362612 [GRCh38]
Chr5:86658429 [GRCh37]
Chr5:5q14.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_002890.3(RASA1):c.*375T>C single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000321699]|Parkes Weber syndrome [RCV000374124] Chr5:87391258 [GRCh38]
Chr5:86687075 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.899+8A>G single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000357177]|Parkes Weber syndrome [RCV000321783] Chr5:87333345 [GRCh38]
Chr5:86629162 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.2259C>T (p.Ala753_Ser754=) single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000274214]|Capillary malformation-arteriovenous malformation syndrome [RCV001521367]|Parkes Weber syndrome [RCV000331764] Chr5:87376955 [GRCh38]
Chr5:86672772 [GRCh37]
Chr5:5q14.3
benign|likely benign
NM_002890.3(RASA1):c.*16T>C single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000309726]|Parkes Weber syndrome [RCV000362673] Chr5:87390899 [GRCh38]
Chr5:86686716 [GRCh37]
Chr5:5q14.3
likely benign|uncertain significance
NM_002890.3(RASA1):c.407C>T (p.Pro136Leu) single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000362610]|Capillary malformation-arteriovenous malformation syndrome [RCV001850876]|Parkes Weber syndrome [RCV000310250] Chr5:87268858 [GRCh38]
Chr5:86564675 [GRCh37]
Chr5:5q14.3
likely benign|uncertain significance
NM_002890.3(RASA1):c.*733ATT[1] microsatellite Capillary malformation-arteriovenous malformation 1 [RCV000358528]|Parkes Weber syndrome [RCV000306095] Chr5:87391615..87391617 [GRCh38]
Chr5:86687432..86687434 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.351C>T (p.Thr117=) single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000292682]|Parkes Weber syndrome [RCV000393238] Chr5:87268802 [GRCh38]
Chr5:86564619 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.1102+10T>C single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000317579]|Capillary malformation-arteriovenous malformation syndrome [RCV000858578]|Parkes Weber syndrome [RCV000259976]|not provided [RCV001580487] Chr5:87346734 [GRCh38]
Chr5:86642551 [GRCh37]
Chr5:5q14.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_002890.3(RASA1):c.*476T>G single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000346635]|Parkes Weber syndrome [RCV000294167] Chr5:87391359 [GRCh38]
Chr5:86687176 [GRCh37]
Chr5:5q14.3
likely benign|uncertain significance
NM_002890.3(RASA1):c.*424G>T single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000295105]|Parkes Weber syndrome [RCV000373324] Chr5:87391307 [GRCh38]
Chr5:86687124 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.1305T>C (p.Tyr435_Tyr436=) single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000388490]|Capillary malformation-arteriovenous malformation syndrome [RCV002058541]|Parkes Weber syndrome [RCV000296505] Chr5:87353208 [GRCh38]
Chr5:86649025 [GRCh37]
Chr5:5q14.3
likely benign|uncertain significance
NM_002890.3(RASA1):c.829-12T>A single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000264332]|Capillary malformation-arteriovenous malformation syndrome [RCV002061296]|Parkes Weber syndrome [RCV000361365] Chr5:87333255 [GRCh38]
Chr5:86629072 [GRCh37]
Chr5:5q14.3
benign|likely benign
NM_002890.3(RASA1):c.248G>A (p.Gly83Glu) single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000280765]|Capillary malformation-arteriovenous malformation syndrome [RCV002229973]|Parkes Weber syndrome [RCV000377938] Chr5:87268699 [GRCh38]
Chr5:86564516 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.1371G>A (p.Lys457_Glu458=) single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000330390]|Capillary malformation-arteriovenous malformation syndrome [RCV000858684]|Parkes Weber syndrome [RCV000387224]|not provided [RCV001564743]|not specified [RCV001001597] Chr5:87362589 [GRCh38]
Chr5:86658406 [GRCh37]
Chr5:5q14.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_002890.3(RASA1):c.360C>A (p.Pro120=) single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000349970]|Capillary malformation-arteriovenous malformation syndrome [RCV001081077]|Parkes Weber syndrome [RCV000393247]|not provided [RCV000431869] Chr5:87268811 [GRCh38]
Chr5:86564628 [GRCh37]
Chr5:5q14.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_002890.3(RASA1):c.*424G>A single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000281984]|Parkes Weber syndrome [RCV000335005] Chr5:87391307 [GRCh38]
Chr5:86687124 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.1583A>G (p.Tyr528Cys) single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000397802]|Capillary malformation-arteriovenous malformation syndrome [RCV000858079]|Parkes Weber syndrome [RCV000342211]|not provided [RCV001712339]|not specified [RCV000506253] Chr5:87363477 [GRCh38]
Chr5:86659294 [GRCh37]
Chr5:5q14.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_002890.3(RASA1):c.*852A>G single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000386314]|Parkes Weber syndrome [RCV000331895] Chr5:87391735 [GRCh38]
Chr5:86687552 [GRCh37]
Chr5:5q14.3
likely benign|uncertain significance
NM_002890.3(RASA1):c.260C>G (p.Thr87Arg) single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000319476]|Parkes Weber syndrome [RCV000371706] Chr5:87268711 [GRCh38]
Chr5:86564528 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.*9G>A single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000271038]|Parkes Weber syndrome [RCV000368389] Chr5:87390892 [GRCh38]
Chr5:86686709 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.2926-8C>T single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV001089068]|not provided [RCV000344207] Chr5:87389385 [GRCh38]
Chr5:86685202 [GRCh37]
Chr5:5q14.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002890.3(RASA1):c.2011+4A>C single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000353985]|Parkes Weber syndrome [RCV000261406] Chr5:87374920 [GRCh38]
Chr5:86670737 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.2487+11A>C single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000272899]|Parkes Weber syndrome [RCV000383929] Chr5:87378549 [GRCh38]
Chr5:86674366 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.2450_2451del (p.Ser817fs) microsatellite not provided [RCV000313015] Chr5:87378499..87378500 [GRCh38]
Chr5:86674316..86674317 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.*840ATT[1] microsatellite Capillary malformation-arteriovenous malformation 1 [RCV000352914]|Parkes Weber syndrome [RCV000262695] Chr5:87391723..87391725 [GRCh38]
Chr5:86687540..86687542 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.2698_2701del (p.Val900fs) deletion Capillary malformation-arteriovenous malformation syndrome [RCV001060687]|not provided [RCV000327372] Chr5:87383717..87383720 [GRCh38]
Chr5:86679534..86679537 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.*298T>C single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000379992]|Parkes Weber syndrome [RCV000264266] Chr5:87391181 [GRCh38]
Chr5:86686998 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.2444_2445del (p.Lys815fs) deletion not provided [RCV000350739] Chr5:87378494..87378495 [GRCh38]
Chr5:86674311..86674312 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.2164G>T (p.Glu722Ter) single nucleotide variant not provided [RCV000377920] Chr5:87376545 [GRCh38]
Chr5:86672362 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.-128GTT[2] microsatellite Capillary malformation-arteriovenous malformation 1 [RCV000366343]|Parkes Weber syndrome [RCV000269463] Chr5:87268322..87268324 [GRCh38]
Chr5:86564139..86564141 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.2798_2804del (p.Val933fs) deletion not provided [RCV000489096] Chr5:87385340..87385346 [GRCh38]
Chr5:86681157..86681163 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.540-70T>A single nucleotide variant not provided [RCV001546333] Chr5:87331278 [GRCh38]
Chr5:86627095 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.2049G>C (p.Gly683_His684=) single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000314316]|Parkes Weber syndrome [RCV000371204] Chr5:87376430 [GRCh38]
Chr5:86672247 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.*572C>A single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000401955]|Parkes Weber syndrome [RCV000364112] Chr5:87391455 [GRCh38]
Chr5:86687272 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.2125C>T (p.Arg709Ter) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV001386102]|not provided [RCV000521374] Chr5:87376506 [GRCh38]
Chr5:86672323 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.*1000GTTAA[1] microsatellite Capillary malformation-arteriovenous malformation 1 [RCV000296743]|Parkes Weber syndrome [RCV000332841] Chr5:87391883..87391887 [GRCh38]
Chr5:86687700..86687704 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.*448T>G single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000352323]|Parkes Weber syndrome [RCV000393369] Chr5:87391331 [GRCh38]
Chr5:86687148 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.-179A>C single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000309354]|Parkes Weber syndrome [RCV000400820] Chr5:87268273 [GRCh38]
Chr5:86564090 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.2926-14C>T single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000298321]|Capillary malformation-arteriovenous malformation syndrome [RCV002058543]|Parkes Weber syndrome [RCV000350994] Chr5:87389379 [GRCh38]
Chr5:86685196 [GRCh37]
Chr5:5q14.3
likely benign|uncertain significance
NM_002890.3(RASA1):c.3029G>A (p.Arg1010Gln) single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000390256]|Parkes Weber syndrome [RCV000311341] Chr5:87389496 [GRCh38]
Chr5:86685313 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.1934+3A>C single nucleotide variant not provided [RCV000579105] Chr5:87374323 [GRCh38]
Chr5:86670140 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.508G>A (p.Ala170Thr) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV000640558] Chr5:87268959 [GRCh38]
Chr5:86564776 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.319G>C (p.Val107Leu) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002233485] Chr5:87268770 [GRCh38]
Chr5:86564587 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.2506G>T (p.Glu836Ter) single nucleotide variant not provided [RCV000598939] Chr5:87379753 [GRCh38]
Chr5:86675570 [GRCh37]
Chr5:5q14.3
pathogenic
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Familial adenomatous polyposis 1 [RCV002231249]|Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2
pathogenic
NM_002890.3(RASA1):c.1453+1G>T single nucleotide variant not provided [RCV000521243] Chr5:87362672 [GRCh38]
Chr5:86658489 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.261_262del (p.Gly89fs) deletion Capillary malformation-arteriovenous malformation syndrome [RCV000640554]|not provided [RCV000599535] Chr5:87268712..87268713 [GRCh38]
Chr5:86564529..86564530 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.2300C>T (p.Ser767Leu) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002232629] Chr5:87376996 [GRCh38]
Chr5:86672813 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.1859T>C (p.Leu620Pro) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002233035] Chr5:87374245 [GRCh38]
Chr5:86670062 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.2747A>G (p.Asn916Ser) single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000532894]|not provided [RCV001764567] Chr5:87383769 [GRCh38]
Chr5:86679586 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.3085A>G (p.Ile1029Val) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV000640557] Chr5:87390824 [GRCh38]
Chr5:86686641 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.1248T>G (p.Tyr416Ter) single nucleotide variant not provided [RCV000757712] Chr5:87349359 [GRCh38]
Chr5:86645176 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.64G>T (p.Gly22Cys) single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV001332196]|Capillary malformation-arteriovenous malformation syndrome [RCV001206753]|not provided [RCV000757714] Chr5:87268515 [GRCh38]
Chr5:86564332 [GRCh37]
Chr5:5q14.3
benign|likely benign|uncertain significance
NM_002890.3(RASA1):c.1279C>T (p.Arg427Ter) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV001052132]|not provided [RCV000757715] Chr5:87353182 [GRCh38]
Chr5:86648999 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.431_438del (p.Pro144fs) deletion not specified [RCV001000944] Chr5:87268882..87268889 [GRCh38]
Chr5:86564699..86564706 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.1049+36dup duplication not provided [RCV001541017] Chr5:87341347..87341348 [GRCh38]
Chr5:86637164..86637165 [GRCh37]
Chr5:5q14.3
benign
NM_002890.3(RASA1):c.2873del (p.Pro958fs) deletion Capillary malformation-arteriovenous malformation 1 [RCV000558080] Chr5:87386850 [GRCh38]
Chr5:86682667 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.384C>T (p.Leu128=) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV000558647] Chr5:87268835 [GRCh38]
Chr5:86564652 [GRCh37]
Chr5:5q14.3
benign
NM_002890.3(RASA1):c.539+5G>A single nucleotide variant not provided [RCV000414450] Chr5:87268995 [GRCh38]
Chr5:86564812 [GRCh37]
Chr5:5q14.3
likely pathogenic
NM_002890.3(RASA1):c.2707C>T (p.Arg903Ter) single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000553769]|Capillary malformation-arteriovenous malformation syndrome [RCV002231771] Chr5:87383729 [GRCh38]
Chr5:86679546 [GRCh37]
Chr5:5q14.3
pathogenic
GRCh37/hg19 5q14.3(chr5:86254118-86777028)x1 copy number loss See cases [RCV000447494] Chr5:86254118..86777028 [GRCh37]
Chr5:5q14.3
pathogenic
GRCh37/hg19 5q14.3(chr5:86530415-88893604)x1 copy number loss See cases [RCV000446445] Chr5:86530415..88893604 [GRCh37]
Chr5:5q14.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_002890.3(RASA1):c.1777-16A>T single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002061573]|not specified [RCV000440727] Chr5:87374147 [GRCh38]
Chr5:86669964 [GRCh37]
Chr5:5q14.3
benign
NM_002890.3(RASA1):c.1141A>G (p.Asn381Asp) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002230637] Chr5:87349252 [GRCh38]
Chr5:86645069 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.3055C>T (p.Gln1019Ter) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002230640] Chr5:87389522 [GRCh38]
Chr5:86685339 [GRCh37]
Chr5:5q14.3
likely pathogenic
NM_002890.3(RASA1):c.17C>T (p.Ala6Val) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV000469146] Chr5:87268468 [GRCh38]
Chr5:86564285 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.1938T>C (p.Asp646_Leu647=) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV000463900] Chr5:87374843 [GRCh38]
Chr5:86670660 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.3133G>T (p.Asp1045Tyr) single nucleotide variant not provided [RCV000480583] Chr5:87390872 [GRCh38]
Chr5:86686689 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.1041A>G (p.Glu347_Gly348=) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV000468419] Chr5:87341313 [GRCh38]
Chr5:86637130 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.613_617del (p.Leu205fs) deletion Capillary malformation-arteriovenous malformation syndrome [RCV000468716] Chr5:87331417..87331421 [GRCh38]
Chr5:86627234..86627238 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.2847+1G>A single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002230638] Chr5:87385390 [GRCh38]
Chr5:86681207 [GRCh37]
Chr5:5q14.3
likely pathogenic
NM_002890.3(RASA1):c.632_644del (p.Arg211fs) deletion not provided [RCV000478063] Chr5:87331438..87331450 [GRCh38]
Chr5:86627255..86627267 [GRCh37]
Chr5:5q14.3
likely pathogenic
NM_002890.3(RASA1):c.1491_1494del (p.Glu498fs) deletion not provided [RCV000486436] Chr5:87363385..87363388 [GRCh38]
Chr5:86659202..86659205 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.1968A>T (p.Ile656_Thr657=) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV000469521] Chr5:87374873 [GRCh38]
Chr5:86670690 [GRCh37]
Chr5:5q14.3
benign
NM_002890.3(RASA1):c.1358_1359del (p.Thr453fs) microsatellite Capillary malformation-arteriovenous malformation syndrome [RCV002230639] Chr5:87362573..87362574 [GRCh38]
Chr5:86658390..86658391 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.297del (p.Ala100fs) deletion not provided [RCV000523180] Chr5:87268748 [GRCh38]
Chr5:86564565 [GRCh37]
Chr5:5q14.3
pathogenic|likely pathogenic
NM_002890.3(RASA1):c.407C>A (p.Pro136His) single nucleotide variant not provided [RCV000498168] Chr5:87268858 [GRCh38]
Chr5:86564675 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.1447A>T (p.Lys483Ter) single nucleotide variant not provided [RCV000498475] Chr5:87362665 [GRCh38]
Chr5:86658482 [GRCh37]
Chr5:5q14.3
likely pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
NM_002890.3(RASA1):c.2691-17del deletion not provided [RCV001562257]|not specified [RCV000505891] Chr5:87383679 [GRCh38]
Chr5:86679496 [GRCh37]
Chr5:5q14.3
benign|likely benign
NM_002890.3(RASA1):c.2035C>T (p.Arg679Ter) single nucleotide variant not provided [RCV001811004] Chr5:87376416 [GRCh38]
Chr5:86672233 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.2(RASA1):c.1513A[3](p.Ile505Lysfs) insertion Capillary malformation-arteriovenous malformation syndrome [RCV001232408] Chr5:87363406..87363407 [GRCh38]
Chr5:86659224 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.2604-2A>C single nucleotide variant not specified [RCV000507008] Chr5:87380507 [GRCh38]
Chr5:86676324 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.1834A>G (p.Thr612Ala) single nucleotide variant not specified [RCV000507080] Chr5:87374220 [GRCh38]
Chr5:86670037 [GRCh37]
Chr5:5q14.3
uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_002890.3(RASA1):c.1534C>T (p.Arg512Ter) single nucleotide variant not specified [RCV000507565] Chr5:87363428 [GRCh38]
Chr5:86659245 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.829-12del deletion not provided [RCV001811005] Chr5:87333245 [GRCh38]
Chr5:86629062 [GRCh37]
Chr5:5q14.3
benign
NM_002890.3(RASA1):c.2307G>A (p.Leu769_Leu770=) single nucleotide variant not specified [RCV000508184] Chr5:87377003 [GRCh38]
Chr5:86672820 [GRCh37]
Chr5:5q14.3
likely benign
GRCh37/hg19 5q14.3(chr5:86621337-89204392)x3 copy number gain See cases [RCV000510982] Chr5:86621337..89204392 [GRCh37]
Chr5:5q14.3
likely pathogenic
NM_002890.3(RASA1):c.2011+7T>G single nucleotide variant not specified [RCV000601396] Chr5:87374923 [GRCh38]
Chr5:86670740 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.2925+9A>T single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002231773] Chr5:87386912 [GRCh38]
Chr5:86682729 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.1659C>A (p.Tyr553Ter) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002231768] Chr5:87369861 [GRCh38]
Chr5:86665678 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.2266C>T (p.Leu756_Leu757=) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002232251] Chr5:87376962 [GRCh38]
Chr5:86672779 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.1935-3T>G single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002232790] Chr5:87374837 [GRCh38]
Chr5:86670654 [GRCh37]
Chr5:5q14.3
likely pathogenic|uncertain significance
NM_002890.3(RASA1):c.2603+1G>A single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002232788]|not provided [RCV000680836] Chr5:87379851 [GRCh38]
Chr5:86675668 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.2557dup (p.Ser853fs) duplication Capillary malformation-arteriovenous malformation syndrome [RCV000533121] Chr5:87379801..87379802 [GRCh38]
Chr5:86675618..86675619 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.1935-3T>C single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV000556122]|not provided [RCV001551616] Chr5:87374837 [GRCh38]
Chr5:86670654 [GRCh37]
Chr5:5q14.3
likely benign|uncertain significance
NM_002890.3(RASA1):c.1332+20T>C single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002063057]|not specified [RCV000609819] Chr5:87353255 [GRCh38]
Chr5:86649072 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.3067T>C (p.Leu1023_Lys1024=) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV000640566] Chr5:87390806 [GRCh38]
Chr5:86686623 [GRCh37]
Chr5:5q14.3
benign
NM_002890.3(RASA1):c.395_396delinsTT (p.Gly132Val) indel Capillary malformation-arteriovenous malformation syndrome [RCV002231774] Chr5:87268846..87268847 [GRCh38]
Chr5:86564663..86564664 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.1024dup (p.Glu342fs) duplication Capillary malformation-arteriovenous malformation 1 [RCV000627050] Chr5:87341293..87341294 [GRCh38]
Chr5:86637110..86637111 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.3060+9dup duplication Capillary malformation-arteriovenous malformation syndrome [RCV001502210]|not specified [RCV000604501] Chr5:87389533..87389534 [GRCh38]
Chr5:86685350..86685351 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.1454-7del deletion Capillary malformation-arteriovenous malformation syndrome [RCV002062182]|not specified [RCV000609361] Chr5:87363331 [GRCh38]
Chr5:86659148 [GRCh37]
Chr5:5q14.3
benign
NM_002890.3(RASA1):c.2011+6T>A single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002231769] Chr5:87374922 [GRCh38]
Chr5:86670739 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.2773A>G (p.Ile925Val) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV000640553] Chr5:87385315 [GRCh38]
Chr5:86681132 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.190G>A (p.Gly64Arg) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV000640563]|not provided [RCV001766373] Chr5:87268641 [GRCh38]
Chr5:86564458 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.1409C>G (p.Ala470Gly) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002232791] Chr5:87362627 [GRCh38]
Chr5:86658444 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.3060+10C>T single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002233036] Chr5:87389537 [GRCh38]
Chr5:86685354 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.1380T>C (p.Tyr460_Asn461=) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002233037] Chr5:87362598 [GRCh38]
Chr5:86658415 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.3009G>C (p.Val1003_Ala1004=) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV001466615]|not specified [RCV000605997] Chr5:87389476 [GRCh38]
Chr5:86685293 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.1493_1494dup (p.Gly499fs) microsatellite not provided [RCV000657251] Chr5:87363384..87363385 [GRCh38]
Chr5:86659201..86659202 [GRCh37]
Chr5:5q14.3
likely pathogenic
NM_002890.3(RASA1):c.2245C>T (p.Arg749Ter) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002232823]|not provided [RCV001572593] Chr5:87376941 [GRCh38]
Chr5:86672758 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.669G>C (p.Gln223His) single nucleotide variant not provided [RCV000681052] Chr5:87331477 [GRCh38]
Chr5:86627294 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.2806_2807insTT (p.Ser936fs) insertion not provided [RCV000681408] Chr5:87385347..87385348 [GRCh38]
Chr5:86681164..86681165 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.2093dup (p.Leu698fs) duplication not provided [RCV000681389] Chr5:87376472..87376473 [GRCh38]
Chr5:86672289..86672290 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.2345-69T>G single nucleotide variant not provided [RCV000680748] Chr5:87378327 [GRCh38]
Chr5:86674144 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.540-27G>A single nucleotide variant not provided [RCV000680728] Chr5:87331321 [GRCh38]
Chr5:86627138 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.1698+2T>C single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002233250] Chr5:87369902 [GRCh38]
Chr5:86665719 [GRCh37]
Chr5:5q14.3
likely pathogenic
NM_002890.3(RASA1):c.1760A>G (p.Asn587Ser) single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000705419] Chr5:87372179 [GRCh38]
Chr5:86667996 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.2020C>T (p.Arg674Cys) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002233649]|not provided [RCV001756217] Chr5:87376401 [GRCh38]
Chr5:86672218 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.2333dup (p.Ser779fs) duplication Capillary malformation-arteriovenous malformation syndrome [RCV002233116] Chr5:87377028..87377029 [GRCh38]
Chr5:86672845..86672846 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.467G>T (p.Gly156Val) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002233348] Chr5:87268918 [GRCh38]
Chr5:86564735 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.2866_2867del (p.Val956fs) microsatellite Capillary malformation-arteriovenous malformation 1 [RCV000706831] Chr5:87386842..87386843 [GRCh38]
Chr5:86682659..86682660 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.3043G>T (p.Glu1015Ter) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002233425] Chr5:87389510 [GRCh38]
Chr5:86685327 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.2239C>A (p.Gln747Lys) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002232945] Chr5:87376935 [GRCh38]
Chr5:86672752 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.1368C>T (p.Gly456_Lys457=) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002233272] Chr5:87362586 [GRCh38]
Chr5:86658403 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.539+3A>G single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002233627] Chr5:87268993 [GRCh38]
Chr5:86564810 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.1017+160T>C single nucleotide variant not provided [RCV001582109] Chr5:87338251 [GRCh38]
Chr5:86634068 [GRCh37]
Chr5:5q14.3
likely benign
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_002890.3(RASA1):c.2771del (p.Pro924fs) deletion Capillary malformation-arteriovenous malformation 1 [RCV001542654] Chr5:87385312 [GRCh38]
Chr5:86681129 [GRCh37]
Chr5:5q14.3
likely pathogenic
NM_002890.3(RASA1):c.2758+43T>A single nucleotide variant not provided [RCV001585007] Chr5:87383823 [GRCh38]
Chr5:86679640 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.2149A>G (p.Ile717Val) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV001871681]|not provided [RCV001812937] Chr5:87376530 [GRCh38]
Chr5:86672347 [GRCh37]
Chr5:5q14.3
likely benign|uncertain significance
NM_002890.3(RASA1):c.1777-3del deletion Capillary malformation-arteriovenous malformation syndrome [RCV002071924]|not provided [RCV001535035] Chr5:87374148 [GRCh38]
Chr5:86669965 [GRCh37]
Chr5:5q14.3
benign
NM_002890.3(RASA1):c.2723C>G (p.Ala908Gly) single nucleotide variant not provided [RCV001571021] Chr5:87383745 [GRCh38]
Chr5:86679562 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.1333-69C>A single nucleotide variant not provided [RCV001547230] Chr5:87362482 [GRCh38]
Chr5:86658299 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.2725A>G (p.Ile909Val) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV001035662]|not provided [RCV000756590] Chr5:87383747 [GRCh38]
Chr5:86679564 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.71C>G (p.Ala24Gly) single nucleotide variant not provided [RCV000756592] Chr5:87268522 [GRCh38]
Chr5:86564339 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.3018del (p.Asp1007fs) deletion not provided [RCV000756593] Chr5:87389485 [GRCh38]
Chr5:86685302 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.2365C>T (p.Arg789Ter) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV001855925]|not provided [RCV000760461] Chr5:87378416 [GRCh38]
Chr5:86674233 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.566C>T (p.Thr189Met) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV001060027] Chr5:87331374 [GRCh38]
Chr5:86627191 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.253G>A (p.Gly85Arg) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV001060760] Chr5:87268704 [GRCh38]
Chr5:86564521 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.1017+65G>A single nucleotide variant not provided [RCV001641337] Chr5:87338156 [GRCh38]
Chr5:86633973 [GRCh37]
Chr5:5q14.3
benign
NM_002890.3(RASA1):c.2603+3A>G single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV001992939] Chr5:87379853 [GRCh38]
Chr5:86675670 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.2470A>T (p.Ser824Cys) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV001882688]|not provided [RCV001575925] Chr5:87378521 [GRCh38]
Chr5:86674338 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.539+363G>A single nucleotide variant not provided [RCV001576066] Chr5:87269353 [GRCh38]
Chr5:86565170 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.-299T>G single nucleotide variant not provided [RCV001693129] Chr5:87268153 [GRCh38]
Chr5:86563970 [GRCh37]
Chr5:5q14.3
benign
NM_002890.3(RASA1):c.2345-6del deletion Capillary malformation-arteriovenous malformation syndrome [RCV001469761]|not provided [RCV000926584] Chr5:87378390 [GRCh38]
Chr5:86674207 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.2345-9T>C single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV000973839] Chr5:87378387 [GRCh38]
Chr5:86674204 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.1332+8T>C single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV000870233]|not provided [RCV001811525] Chr5:87353243 [GRCh38]
Chr5:86649060 [GRCh37]
Chr5:5q14.3
benign
NM_002890.3(RASA1):c.1911A>G (p.Val637_Trp638=) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV000945393] Chr5:87374297 [GRCh38]
Chr5:86670114 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.288T>G (p.Ala96=) single nucleotide variant not provided [RCV000937879] Chr5:87268739 [GRCh38]
Chr5:86564556 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.2286C>T (p.His762_Glu763=) single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV001152667]|Capillary malformation-arteriovenous malformation syndrome [RCV000863664] Chr5:87376982 [GRCh38]
Chr5:86672799 [GRCh37]
Chr5:5q14.3
benign
NM_002890.3(RASA1):c.414C>G (p.Pro138=) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV000863757] Chr5:87268865 [GRCh38]
Chr5:86564682 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.864A>G (p.Leu288_Pro289=) single nucleotide variant not provided [RCV000928389] Chr5:87333302 [GRCh38]
Chr5:86629119 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.693-158A>G single nucleotide variant not provided [RCV001643421] Chr5:87332349 [GRCh38]
Chr5:86628166 [GRCh37]
Chr5:5q14.3
benign
NM_002890.3(RASA1):c.448C>T (p.Leu150Phe) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV001049456] Chr5:87268899 [GRCh38]
Chr5:86564716 [GRCh37]
Chr5:5q14.3
uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
NM_002890.3(RASA1):c.1777-3T>A single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002234205] Chr5:87374160 [GRCh38]
Chr5:86669977 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.188G>T (p.Gly63Val) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV000793419] Chr5:87268639 [GRCh38]
Chr5:86564456 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.347T>C (p.Leu116Pro) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV000863983] Chr5:87268798 [GRCh38]
Chr5:86564615 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.2033G>A (p.Ser678Asn) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV000864032] Chr5:87376414 [GRCh38]
Chr5:86672231 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.1605T>C (p.Phe535_Gly536=) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV001459623]|not provided [RCV000944745] Chr5:87363499 [GRCh38]
Chr5:86659316 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.1212G>A (p.Thr404_Pro405=) single nucleotide variant not provided [RCV000870415] Chr5:87349323 [GRCh38]
Chr5:86645140 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.2766A>T (p.Pro922_Ser923=) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV000867820]|not provided [RCV001759649] Chr5:87385308 [GRCh38]
Chr5:86681125 [GRCh37]
Chr5:5q14.3
benign|likely benign
NM_002890.3(RASA1):c.1308T>C (p.Tyr436_Leu437=) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV001469691]|not provided [RCV000876834] Chr5:87353211 [GRCh38]
Chr5:86649028 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.1722A>G (p.Ala574_Phe575=) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV000862656]|not provided [RCV001811512] Chr5:87372141 [GRCh38]
Chr5:86667958 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.3135T>C (p.Asp1045_Val1046=) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV000941225] Chr5:87390874 [GRCh38]
Chr5:86686691 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.2794T>C (p.Leu932_Val933=) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV001454180]|not provided [RCV000960451] Chr5:87385336 [GRCh38]
Chr5:86681153 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.1352A>G (p.Asn451Ser) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002234783] Chr5:87362570 [GRCh38]
Chr5:86658387 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.412C>T (p.Pro138Ser) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002234315] Chr5:87268863 [GRCh38]
Chr5:86564680 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.1280G>A (p.Arg427Gln) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002235039] Chr5:87353183 [GRCh38]
Chr5:86649000 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.258G>C (p.Leu86=) single nucleotide variant not provided [RCV000869503] Chr5:87268709 [GRCh38]
Chr5:86564526 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.370C>T (p.Leu124Phe) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV000808263] Chr5:87268821 [GRCh38]
Chr5:86564638 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.442G>T (p.Ala148Ser) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002235345] Chr5:87268893 [GRCh38]
Chr5:86564710 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.1192C>T (p.Arg398Ter) single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000808665]|Capillary malformation-arteriovenous malformation syndrome [RCV002235551]|not provided [RCV002254318] Chr5:87349303 [GRCh38]
Chr5:86645120 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.3060+1G>T single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002235307] Chr5:87389528 [GRCh38]
Chr5:86685345 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.1049+5G>T single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002234859] Chr5:87341326 [GRCh38]
Chr5:86637143 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.1888G>C (p.Ala630Pro) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002234271] Chr5:87374274 [GRCh38]
Chr5:86670091 [GRCh37]
Chr5:5q14.3
uncertain significance
GRCh37/hg19 5q14.3(chr5:83497559-88416354)x1 copy number loss not provided [RCV000849702] Chr5:83497559..88416354 [GRCh37]
Chr5:5q14.3
pathogenic
NC_000005.10:g.(?_87390790)_(87390893_?)del deletion Capillary malformation-arteriovenous malformation syndrome [RCV000805289] Chr5:87390790..87390893 [GRCh38]
Chr5:86686607..86686710 [GRCh37]
Chr5:5q14.3
likely pathogenic|uncertain significance
NM_002890.3(RASA1):c.2739G>T (p.Arg913_Met914=) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002234815] Chr5:87383761 [GRCh38]
Chr5:86679578 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.1222C>T (p.Gln408Ter) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV001058236] Chr5:87349333 [GRCh38]
Chr5:86645150 [GRCh37]
Chr5:5q14.3
pathogenic
NC_000005.10:g.(?_87268442)_(87353245_?)del deletion Capillary malformation-arteriovenous malformation 1 [RCV000811353]|Capillary malformation-arteriovenous malformation syndrome [RCV001385465] Chr5:87268442..87353245 [GRCh38]
Chr5:86564259..86649062 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.358C>T (p.Pro120Ser) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV001060880] Chr5:87268809 [GRCh38]
Chr5:86564626 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.2603+2dup duplication Capillary malformation-arteriovenous malformation syndrome [RCV002234222] Chr5:87379851..87379852 [GRCh38]
Chr5:86675668..86675669 [GRCh37]
Chr5:5q14.3
likely pathogenic|uncertain significance
NM_002890.3(RASA1):c.146A>G (p.Tyr49Cys) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002234281] Chr5:87268597 [GRCh38]
Chr5:86564414 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.1254-4A>T single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002235017] Chr5:87353153 [GRCh38]
Chr5:86648970 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.2942C>T (p.Pro981Leu) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002234196] Chr5:87389409 [GRCh38]
Chr5:86685226 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.2691-4T>C single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV001423718]|not provided [RCV000864376] Chr5:87383709 [GRCh38]
Chr5:86679526 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.1324C>T (p.Pro442Ser) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV000816513] Chr5:87353227 [GRCh38]
Chr5:86649044 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.143C>A (p.Pro48His) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002235090] Chr5:87268594 [GRCh38]
Chr5:86564411 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.2288A>T (p.Glu763Val) single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV000987531]|Capillary malformation-arteriovenous malformation syndrome [RCV000861887]|not provided [RCV002225752] Chr5:87376984 [GRCh38]
Chr5:86672801 [GRCh37]
Chr5:5q14.3
benign|likely benign
NM_002890.3(RASA1):c.202G>A (p.Gly68Arg) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002234263] Chr5:87268653 [GRCh38]
Chr5:86564470 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.360C>G (p.Pro120=) single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV001152558]|Capillary malformation-arteriovenous malformation syndrome [RCV001485058] Chr5:87268811 [GRCh38]
Chr5:86564628 [GRCh37]
Chr5:5q14.3
benign|likely benign
NM_002890.3(RASA1):c.567G>A (p.Thr189_Ile190=) single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV001152560]|Capillary malformation-arteriovenous malformation syndrome [RCV002070853] Chr5:87331375 [GRCh38]
Chr5:86627192 [GRCh37]
Chr5:5q14.3
likely benign|uncertain significance
GRCh37/hg19 5q14.3(chr5:86602617-86701090)x3 copy number gain not provided [RCV000847322] Chr5:86602617..86701090 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.693-6_711del deletion Capillary malformation-arteriovenous malformation syndrome [RCV001062257] Chr5:87332501..87332525 [GRCh38]
Chr5:86628318..86628342 [GRCh37]
Chr5:5q14.3
likely pathogenic
NM_002890.3(RASA1):c.1934+2T>G single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV001055527] Chr5:87374322 [GRCh38]
Chr5:86670139 [GRCh37]
Chr5:5q14.3
likely pathogenic
NM_002890.3(RASA1):c.1332+2T>G single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV001216670] Chr5:87353237 [GRCh38]
Chr5:86649054 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.1567A>G (p.Ser523Gly) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV001056647] Chr5:87363461 [GRCh38]
Chr5:86659278 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.2189T>C (p.Ile730Thr) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV001209130] Chr5:87376885 [GRCh38]
Chr5:86672702 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.1579_1582del (p.Val527fs) deletion Capillary malformation-arteriovenous malformation syndrome [RCV001224362] Chr5:87363470..87363473 [GRCh38]
Chr5:86659287..86659290 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.2149dup (p.Ile717fs) duplication not provided [RCV001009181] Chr5:87376524..87376525 [GRCh38]
Chr5:86672341..86672342 [GRCh37]
Chr5:5q14.3
pathogenic|likely pathogenic
NM_002890.3(RASA1):c.693-5A>G single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV001208804] Chr5:87332502 [GRCh38]
Chr5:86628319 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.848G>A (p.Arg283His) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV001207704] Chr5:87333286 [GRCh38]
Chr5:86629103 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.110A>G (p.Lys37Arg) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV001235297] Chr5:87268561 [GRCh38]
Chr5:86564378 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.2582T>C (p.Met861Thr) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV001237408] Chr5:87379829 [GRCh38]
Chr5:86675646 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.2666C>A (p.Thr889Asn) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV001213081] Chr5:87380571 [GRCh38]
Chr5:86676388 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.2943G>A (p.Pro981_Asp982=) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV001201944] Chr5:87389410 [GRCh38]
Chr5:86685227 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.1611-15G>A single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV001156473] Chr5:87369798 [GRCh38]
Chr5:86665615 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.1914G>T (p.Trp638Cys) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV001224540] Chr5:87374300 [GRCh38]
Chr5:86670117 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.2848-26T>C single nucleotide variant not provided [RCV001551062] Chr5:87386800 [GRCh38]
Chr5:86682617 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.1050-183A>T single nucleotide variant not provided [RCV001566072] Chr5:87346489 [GRCh38]
Chr5:86642306 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.1102+207C>T single nucleotide variant not provided [RCV001551786] Chr5:87346931 [GRCh38]
Chr5:86642748 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.1699-132T>C single nucleotide variant not provided [RCV001650692] Chr5:87371986 [GRCh38]
Chr5:86667803 [GRCh37]
Chr5:5q14.3
benign
NM_002890.3(RASA1):c.1453+331G>T single nucleotide variant not provided [RCV001585353] Chr5:87363002 [GRCh38]
Chr5:86658819 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.1049+76A>G single nucleotide variant not provided [RCV001549710] Chr5:87341397 [GRCh38]
Chr5:86637214 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.2011+237T>C single nucleotide variant not provided [RCV001713238] Chr5:87375153 [GRCh38]
Chr5:86670970 [GRCh37]
Chr5:5q14.3
benign
NM_002890.3(RASA1):c.-493dup duplication not provided [RCV001658712] Chr5:87267958..87267959 [GRCh38]
Chr5:86563775..86563776 [GRCh37]
Chr5:5q14.3
benign
NM_002890.3(RASA1):c.2185-155A>G single nucleotide variant not provided [RCV001639084] Chr5:87376726 [GRCh38]
Chr5:86672543 [GRCh37]
Chr5:5q14.3
benign
NM_002890.3(RASA1):c.1699-35T>C single nucleotide variant not provided [RCV001556587] Chr5:87372083 [GRCh38]
Chr5:86667900 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.1610+29C>T single nucleotide variant not provided [RCV001645976] Chr5:87363533 [GRCh38]
Chr5:86659350 [GRCh37]
Chr5:5q14.3
benign
NM_002890.3(RASA1):c.1934+143T>A single nucleotide variant not provided [RCV001562049] Chr5:87374463 [GRCh38]
Chr5:86670280 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.1777-4_1777-3del deletion not provided [RCV001562610] Chr5:87374148..87374149 [GRCh38]
Chr5:86669965..86669966 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.829-123T>G single nucleotide variant not provided [RCV001562656] Chr5:87333144 [GRCh38]
Chr5:86628961 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.1049+207A>G single nucleotide variant not provided [RCV001563321] Chr5:87341528 [GRCh38]
Chr5:86637345 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.2691-64T>C single nucleotide variant not provided [RCV001718489] Chr5:87383649 [GRCh38]
Chr5:86679466 [GRCh37]
Chr5:5q14.3
benign
NM_002890.3(RASA1):c.2345-111C>T single nucleotide variant not provided [RCV001546409] Chr5:87378285 [GRCh38]
Chr5:86674102 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.2422C>T (p.Gln808Ter) single nucleotide variant not provided [RCV001566042] Chr5:87378473 [GRCh38]
Chr5:86674290 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.1934+142T>A single nucleotide variant not provided [RCV001570665] Chr5:87374462 [GRCh38]
Chr5:86670279 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.-515C>T single nucleotide variant not provided [RCV001588298] Chr5:87267937 [GRCh38]
Chr5:86563754 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.829-193G>A single nucleotide variant not provided [RCV001716733] Chr5:87333074 [GRCh38]
Chr5:86628891 [GRCh37]
Chr5:5q14.3
benign
NM_002890.3(RASA1):c.3061-193T>C single nucleotide variant not provided [RCV001583235] Chr5:87390607 [GRCh38]
Chr5:86686424 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.1348C>T (p.Leu450Phe) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV000865993]|not provided [RCV001811521] Chr5:87362566 [GRCh38]
Chr5:86658383 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.261A>G (p.Thr87=) single nucleotide variant not provided [RCV000951782] Chr5:87268712 [GRCh38]
Chr5:86564529 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.684C>T (p.Asn228_His229=) single nucleotide variant not provided [RCV000908821] Chr5:87331492 [GRCh38]
Chr5:86627309 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.829-9G>T single nucleotide variant not provided [RCV000951945] Chr5:87333258 [GRCh38]
Chr5:86629075 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.829-8G>T single nucleotide variant not provided [RCV000951946] Chr5:87333259 [GRCh38]
Chr5:86629076 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.78C>T (p.Gly26=) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV001505875]|not provided [RCV000908900] Chr5:87268529 [GRCh38]
Chr5:86564346 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.75G>A (p.Ala25=) single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV001158031]|Capillary malformation-arteriovenous malformation syndrome [RCV002070948] Chr5:87268526 [GRCh38]
Chr5:86564343 [GRCh37]
Chr5:5q14.3
likely benign|uncertain significance
NM_002890.3(RASA1):c.79T>C (p.Ser27Pro) single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV001158032] Chr5:87268530 [GRCh38]
Chr5:86564347 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.*1001T>C single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV001158257] Chr5:87391884 [GRCh38]
Chr5:86687701 [GRCh37]
Chr5:5q14.3
benign
NM_002890.3(RASA1):c.1076A>T (p.Gln359Leu) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV001234498] Chr5:87346698 [GRCh38]
Chr5:86642515 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.*96C>G single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV001153944] Chr5:87390979 [GRCh38]
Chr5:86686796 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.1333-17_1340del deletion Capillary malformation-arteriovenous malformation syndrome [RCV001238578] Chr5:87362533..87362557 [GRCh38]
Chr5:86658350..86658374 [GRCh37]
Chr5:5q14.3
likely pathogenic
NM_002890.3(RASA1):c.346C>G (p.Leu116Val) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV001241886] Chr5:87268797 [GRCh38]
Chr5:86564614 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.854G>A (p.Arg285Gln) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV001208641] Chr5:87333292 [GRCh38]
Chr5:86629109 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.402T>C (p.Phe134=) single nucleotide variant Capillary malformation-arteriovenous malformation 1 [RCV001152559] Chr5:87268853 [GRCh38]
Chr5:86564670 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.1777-2A>T single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV001064155] Chr5:87374161 [GRCh38]
Chr5:86669978 [GRCh37]
Chr5:5q14.3
likely pathogenic
NM_002890.3(RASA1):c.27G>T (p.Glu9Asp) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV001227386] Chr5:87268478 [GRCh38]
Chr5:86564295 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002890.3(RASA1):c.2925+1G>A single nucleotide variant Basal cell carcinoma, susceptibility to, 1 [RCV001197461] Chr5:87386904 [GRCh38]
Chr5:86682721 [GRCh37]
Chr5:5q14.3
likely pathogenic
NM_002890.3(RASA1):c.492C>A (p.Tyr164Ter) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV001230539] Chr5:87268943 [GRCh38]
Chr5:86564760 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.396C>T (p.Gly132=) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV001414874]|not provided [RCV000911764] Chr5:87268847 [GRCh38]
Chr5:86564664 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.828+257A>G single nucleotide variant not provided [RCV001545087] Chr5:87332899 [GRCh38]
Chr5:86628716 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.2011+149T>C single nucleotide variant not provided [RCV001545458] Chr5:87375065 [GRCh38]
Chr5:86670882 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.2184+109A>C single nucleotide variant not provided [RCV001557309] Chr5:87376674 [GRCh38]
Chr5:86672491 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.2848-21C>T single nucleotide variant not provided [RCV001548420] Chr5:87386805 [GRCh38]
Chr5:86682622 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.2759-190T>C single nucleotide variant not provided [RCV001657402] Chr5:87385111 [GRCh38]
Chr5:86680928 [GRCh37]
Chr5:5q14.3
benign
NM_002890.3(RASA1):c.2011+56A>G single nucleotide variant not provided [RCV001637514] Chr5:87374972 [GRCh38]
Chr5:86670789 [GRCh37]
Chr5:5q14.3
benign
NM_002890.3(RASA1):c.1777-3dup duplication Capillary malformation-arteriovenous malformation syndrome [RCV002072107]|not provided [RCV001558399] Chr5:87374147..87374148 [GRCh38]
Chr5:86669964..86669965 [GRCh37]
Chr5:5q14.3
benign|likely benign
NM_002890.3(RASA1):c.625_626del (p.Glu208_Ser209insTer) microsatellite not provided [RCV002254431] Chr5:87331427..87331428 [GRCh38]
Chr5:86627244..86627245 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.1657dup (p.Tyr553fs) duplication Capillary infantile hemangioma [RCV002254433] Chr5:87369857..87369858 [GRCh38]
Chr5:86665674..86665675 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002890.3(RASA1):c.1254-54A>G single nucleotide variant not provided [RCV001560070] Chr5:87353103 [GRCh38]
Chr5:86648920 [GRCh37]
Chr5:5q14.3
likely benign
NM_002890.3(RASA1):c.2758+93del deletion not provided [RCV001555996] Chr5:87383860 [GRCh38]
Chr5:86679677 [GRCh37]
Chr5:5q14.