COL4A2 (collagen type IV alpha 2 chain) - Rat Genome Database

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Gene: COL4A2 (collagen type IV alpha 2 chain) Homo sapiens
Analyze
Symbol: COL4A2
Name: collagen type IV alpha 2 chain
RGD ID: 1317652
HGNC Page HGNC
Description: An extracellular matrix structural constituent conferring tensile strength. Involved in endodermal cell differentiation and negative regulation of angiogenesis. Located in extracellular exosome. Colocalizes with collagen-containing extracellular matrix. Implicated in atherosclerosis and porencephaly.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BSVD2; canstatin; collagen alpha-2(IV) chain; collagen type IV alpha 2; collagen, type IV, alpha 2; DKFZp686I14213; FLJ22259; ICH; POREN2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl13110,305,812 - 110,513,209 (+)EnsemblGRCh38hg38GRCh38
GRCh3813110,307,284 - 110,513,209 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3713110,959,631 - 111,165,556 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3613109,757,632 - 109,963,375 (+)NCBINCBI36hg18NCBI36
Build 3413109,757,631 - 109,963,372NCBI
Celera1391,803,804 - 92,011,436 (+)NCBI
Cytogenetic Map13q34NCBI
HuRef1391,559,092 - 91,764,904 (+)NCBIHuRef
CHM1_113110,928,062 - 111,133,226 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2-methylcholine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-fluorouracil  (EXP)
8'-apo-beta,psi-caroten-8'-al  (EXP)
9-cis-retinoic acid  (EXP)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
aflatoxin B2  (EXP)
aldehydo-D-glucose  (EXP)
all-trans-4-oxoretinoic acid  (EXP)
all-trans-4-oxoretinol  (EXP)
all-trans-retinoic acid  (EXP,ISO)
all-trans-retinol  (EXP)
ammonium chloride  (ISO)
antimycin A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
benzo[e]pyrene  (EXP)
beta-carotene  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (ISO)
bisphenol F  (ISO)
C60 fullerene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
calcitriol  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chlordecone  (ISO)
chromium(6+)  (EXP)
ciprofibrate  (ISO)
cisplatin  (EXP,ISO)
clobetasol  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
curcumin  (ISO)
cyclosporin A  (EXP)
D-glucose  (EXP)
Deguelin  (EXP)
dexamethasone  (ISO)
dextran sulfate  (ISO)
dibenz[a,h]anthracene  (ISO)
dicrotophos  (EXP)
dioxygen  (ISO)
diuron  (ISO)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
ethanol  (ISO)
folpet  (ISO)
glucose  (EXP)
isotretinoin  (EXP)
ivermectin  (EXP)
lead(0)  (EXP)
lead(2+)  (EXP)
lipopolysaccharide  (ISO)
methapyrilene  (EXP)
mitomycin C  (EXP)
N,N-diethyl-m-toluamide  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nickel subsulfide  (EXP)
oxaliplatin  (ISO)
paclitaxel  (EXP)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
permethrin  (ISO)
phenethyl isothiocyanate  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
rotenone  (EXP)
silicon dioxide  (ISO)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenite  (EXP)
sodium dichromate  (EXP)
streptozocin  (ISO)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trimellitic anhydride  (ISO)
troglitazone  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:1377218   PMID:1724753   PMID:2211625   PMID:2426947   PMID:2439508   PMID:2844531   PMID:2846280   PMID:3025878   PMID:3089234   PMID:3182844   PMID:3198637   PMID:3345760  
PMID:3582677   PMID:3692475   PMID:3997552   PMID:6389236   PMID:6811420   PMID:6988303   PMID:7495302   PMID:7500359   PMID:7827955   PMID:8006028   PMID:8317999   PMID:8995276  
PMID:9136074   PMID:9334230   PMID:9409248   PMID:9506531   PMID:9673377   PMID:9878537   PMID:10382266   PMID:10416788   PMID:10625665   PMID:10926178   PMID:11259413   PMID:11683410  
PMID:11711546   PMID:11867580   PMID:12011424   PMID:12021518   PMID:12180907   PMID:12477932   PMID:12878203   PMID:15057823   PMID:15146197   PMID:15231748   PMID:15489334   PMID:15522229  
PMID:15743801   PMID:16368877   PMID:16712791   PMID:17216253   PMID:17339318   PMID:17554254   PMID:17557121   PMID:17700531   PMID:18050191   PMID:18706356   PMID:19481338   PMID:19913121  
PMID:20067797   PMID:20080650   PMID:20201926   PMID:20452482   PMID:20551380   PMID:20628086   PMID:20673868   PMID:20805453   PMID:20889312   PMID:21378990   PMID:21527998   PMID:21873635  
PMID:21900206   PMID:21942715   PMID:22144573   PMID:22209246   PMID:22209247   PMID:22261194   PMID:22268729   PMID:22333902   PMID:23154389   PMID:23376485   PMID:23533145   PMID:23551189  
PMID:23658023   PMID:23818951   PMID:23979707   PMID:24262325   PMID:24317722   PMID:24503185   PMID:24742657   PMID:25037231   PMID:25169943   PMID:25653287   PMID:26006016   PMID:26186194  
PMID:26209635   PMID:26310581   PMID:26343951   PMID:26344197   PMID:27068509   PMID:27389912   PMID:27515006   PMID:27559042   PMID:27794444   PMID:27906681   PMID:27919040   PMID:28005267  
PMID:28327460   PMID:28344315   PMID:28380382   PMID:28514442   PMID:28542708   PMID:28675934   PMID:29507755   PMID:29872149   PMID:30315939   PMID:30351356   PMID:30413629   PMID:30575818  
PMID:30975489   PMID:31214923   PMID:31285761   PMID:31837516   PMID:32413593   PMID:32513696   PMID:33148145   PMID:33247988   PMID:33577044   PMID:33957083  


Genomics

Comparative Map Data
COL4A2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl13110,305,812 - 110,513,209 (+)EnsemblGRCh38hg38GRCh38
GRCh3813110,307,284 - 110,513,209 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3713110,959,631 - 111,165,556 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3613109,757,632 - 109,963,375 (+)NCBINCBI36hg18NCBI36
Build 3413109,757,631 - 109,963,372NCBI
Celera1391,803,804 - 92,011,436 (+)NCBI
Cytogenetic Map13q34NCBI
HuRef1391,559,092 - 91,764,904 (+)NCBIHuRef
CHM1_113110,928,062 - 111,133,226 (+)NCBICHM1_1
Col4a2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39811,362,805 - 11,499,287 (+)NCBIGRCm39mm39
GRCm39 Ensembl811,362,805 - 11,499,287 (+)Ensembl
GRCm38811,312,805 - 11,449,287 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl811,312,805 - 11,449,287 (+)EnsemblGRCm38mm10GRCm38
MGSCv37811,312,829 - 11,449,287 (+)NCBIGRCm37mm9NCBIm37
MGSCv36811,312,996 - 11,449,187 (+)NCBImm8
Celera811,487,441 - 11,623,992 (+)NCBICelera
Cytogenetic Map8A1.1NCBI
cM Map85.62NCBI
Col4a2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21678,047,591 - 78,183,360 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1678,047,602 - 78,183,839 (-)Ensembl
Rnor_6.01683,386,388 - 83,522,169 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1683,387,364 - 83,438,561 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01682,852,230 - 82,987,790 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41682,899,206 - 83,045,102 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11682,871,435 - 83,006,872 (-)NCBI
Celera1675,846,004 - 75,981,238 (-)NCBICelera
Cytogenetic Map16q12.5NCBI
Col4a2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554042,092,184 - 2,178,079 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554042,092,184 - 2,178,079 (-)NCBIChiLan1.0ChiLan1.0
COL4A2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.113110,562,681 - 110,768,362 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl13110,563,119 - 110,767,530 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01391,440,314 - 91,650,138 (+)NCBIMhudiblu_PPA_v0panPan3
COL4A2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12258,656,579 - 58,820,560 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2258,697,175 - 58,773,297 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2258,360,350 - 58,530,121 (+)NCBI
ROS_Cfam_1.02259,273,416 - 59,443,367 (+)NCBI
UMICH_Zoey_3.12258,775,158 - 58,944,081 (+)NCBI
UNSW_CanFamBas_1.02258,766,023 - 58,936,137 (+)NCBI
UU_Cfam_GSD_1.02258,801,350 - 58,971,538 (+)NCBI
Col4a2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945193,535,946 - 193,681,319 (+)NCBI
SpeTri2.0NW_0049364722,270,836 - 2,416,324 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
COL4A2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1176,997,516 - 77,161,615 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11176,996,885 - 77,161,617 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21184,613,792 - 84,675,826 (+)NCBISscrofa10.2Sscrofa10.2susScr3
COL4A2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1388,564,328 - 88,760,191 (+)NCBI
ChlSab1.1 Ensembl388,563,903 - 88,760,411 (+)Ensembl
Vero_WHO_p1.0NW_02366604645,280,036 - 45,477,365 (+)NCBI
Col4a2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247932,201,815 - 2,325,002 (-)NCBI

Position Markers
SHGC-79998  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713111,099,589 - 111,099,860UniSTSGRCh37
Build 3613109,897,590 - 109,897,861RGDNCBI36
Celera1391,945,765 - 91,946,036RGD
Cytogenetic Map13q34UniSTS
HuRef1391,700,005 - 91,700,276UniSTS
TNG Radiation Hybrid Map1341589.0UniSTS
SHGC-146027  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713111,141,743 - 111,142,020UniSTSGRCh37
Build 3613109,939,744 - 109,940,021RGDNCBI36
Celera1391,987,822 - 91,988,099RGD
Cytogenetic Map13q34UniSTS
HuRef1391,741,926 - 91,742,203UniSTS
TNG Radiation Hybrid Map1341605.0UniSTS
COL4A2_2599  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713111,164,242 - 111,165,069UniSTSGRCh37
Build 3613109,962,243 - 109,963,070RGDNCBI36
Celera1392,010,306 - 92,011,131RGD
HuRef1391,763,774 - 91,764,599UniSTS
RH78290  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713111,164,309 - 111,164,442UniSTSGRCh37
Build 3613109,962,310 - 109,962,443RGDNCBI36
Celera1392,010,373 - 92,010,506RGD
Cytogenetic Map13q34UniSTS
HuRef1391,763,841 - 91,763,974UniSTS
GeneMap99-GB4 RH Map13313.51UniSTS
NCBI RH Map131041.4UniSTS
RH46595  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713111,129,267 - 111,129,408UniSTSGRCh37
Build 3613109,927,268 - 109,927,409RGDNCBI36
Celera1391,975,457 - 91,975,598RGD
Cytogenetic Map13q34UniSTS
HuRef1391,729,263 - 91,729,404UniSTS
GeneMap99-GB4 RH Map13311.21UniSTS
STS-W87433  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713111,129,162 - 111,129,305UniSTSGRCh37
Build 3613109,927,163 - 109,927,306RGDNCBI36
Celera1391,975,352 - 91,975,495RGD
Cytogenetic Map13q34UniSTS
HuRef1391,729,158 - 91,729,301UniSTS
GeneMap99-GB4 RH Map13312.01UniSTS
NCBI RH Map131041.4UniSTS
RH1614  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713111,022,300 - 111,022,462UniSTSGRCh37
Build 3613109,820,301 - 109,820,463RGDNCBI36
Celera1391,866,479 - 91,866,641RGD
Cytogenetic Map13q34UniSTS
HuRef1391,621,416 - 91,621,578UniSTS
GeneMap99-GB4 RH Map13312.01UniSTS
G19261  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713111,098,100 - 111,098,275UniSTSGRCh37
Build 3613109,896,101 - 109,896,276RGDNCBI36
Celera1391,944,276 - 91,944,451RGD
Cytogenetic Map13q34UniSTS
HuRef1391,698,515 - 91,698,690UniSTS
G20580  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713111,165,136 - 111,165,353UniSTSGRCh37
Build 3613109,963,137 - 109,963,354RGDNCBI36
Celera1392,011,198 - 92,011,415RGD
Cytogenetic Map13q34UniSTS
HuRef1391,764,666 - 91,764,883UniSTS
A005X39  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713111,165,136 - 111,165,353UniSTSGRCh37
Build 3613109,963,137 - 109,963,354RGDNCBI36
Celera1392,011,198 - 92,011,415RGD
Cytogenetic Map13q34UniSTS
HuRef1391,764,666 - 91,764,883UniSTS
GeneMap99-GB4 RH Map13312.01UniSTS
NCBI RH Map131041.4UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2193
Count of miRNA genes:987
Interacting mature miRNAs:1181
Transcripts:ENST00000360467, ENST00000400163, ENST00000462309, ENST00000463084, ENST00000478681, ENST00000480609, ENST00000480771, ENST00000483683, ENST00000494852
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1 24 1 1 1 14 1 5 8 4 1 10 1
Medium 2328 2188 1469 396 555 236 4273 2134 1296 403 1404 1500 169 1203 2740 3
Low 86 194 248 225 266 225 64 50 2408 11 32 53 2 38 2 2
Below cutoff 14 575 4 2 914 3 3 4 12 12 36 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF258350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF400430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL159153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL161773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW298730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY450357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY455978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC068210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC080644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BY795218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB045156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB148713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CK000715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN397790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN397808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN397819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN397864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J02760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M24766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M36963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X05562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X05610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X12784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000360467   ⟹   ENSP00000353654
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,307,284 - 110,513,209 (+)Ensembl
RefSeq Acc Id: ENST00000400163   ⟹   ENSP00000383027
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,305,812 - 110,424,861 (+)Ensembl
RefSeq Acc Id: ENST00000462309
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,430,051 - 110,431,007 (+)Ensembl
RefSeq Acc Id: ENST00000463084
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,507,444 - 110,512,133 (+)Ensembl
RefSeq Acc Id: ENST00000478681
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,462,022 - 110,462,449 (+)Ensembl
RefSeq Acc Id: ENST00000480609   ⟹   ENSP00000497080
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,506,468 - 110,508,330 (+)Ensembl
RefSeq Acc Id: ENST00000480771
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,307,267 - 110,328,549 (+)Ensembl
RefSeq Acc Id: ENST00000483683
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,477,948 - 110,484,107 (+)Ensembl
RefSeq Acc Id: ENST00000494852   ⟹   ENSP00000497664
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,467,082 - 110,473,594 (+)Ensembl
RefSeq Acc Id: ENST00000617564   ⟹   ENSP00000481492
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,436,286 - 110,459,771 (+)Ensembl
RefSeq Acc Id: ENST00000619688   ⟹   ENSP00000496868
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,424,802 - 110,429,842 (+)Ensembl
RefSeq Acc Id: ENST00000648222
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,511,365 - 110,513,027 (+)Ensembl
RefSeq Acc Id: ENST00000649101   ⟹   ENSP00000497869
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,307,258 - 110,362,215 (+)Ensembl
RefSeq Acc Id: ENST00000649396
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,503,751 - 110,506,571 (+)Ensembl
RefSeq Acc Id: ENST00000649951   ⟹   ENSP00000497015
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,503,976 - 110,504,595 (+)Ensembl
RefSeq Acc Id: ENST00000650225
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,477,923 - 110,513,027 (+)Ensembl
RefSeq Acc Id: ENST00000650322
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,503,697 - 110,507,988 (+)Ensembl
RefSeq Acc Id: ENST00000650540   ⟹   ENSP00000497878
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,307,357 - 110,448,678 (+)Ensembl
RefSeq Acc Id: NM_001846   ⟹   NP_001837
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813110,307,284 - 110,513,209 (+)NCBI
GRCh3713110,959,631 - 111,165,374 (+)ENTREZGENE
Build 3613109,757,632 - 109,963,375 (+)NCBI Archive
HuRef1391,559,092 - 91,764,904 (+)ENTREZGENE
CHM1_113110,928,062 - 111,133,226 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001837   ⟸   NM_001846
- Peptide Label: preproprotein
- UniProtKB: P08572 (UniProtKB/Swiss-Prot),   A0A024RDW8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000497015   ⟸   ENST00000649951
RefSeq Acc Id: ENSP00000497869   ⟸   ENST00000649101
RefSeq Acc Id: ENSP00000353654   ⟸   ENST00000360467
RefSeq Acc Id: ENSP00000383027   ⟸   ENST00000400163
RefSeq Acc Id: ENSP00000497878   ⟸   ENST00000650540
RefSeq Acc Id: ENSP00000497664   ⟸   ENST00000494852
RefSeq Acc Id: ENSP00000497080   ⟸   ENST00000480609
RefSeq Acc Id: ENSP00000481492   ⟸   ENST00000617564
RefSeq Acc Id: ENSP00000496868   ⟸   ENST00000619688
Protein Domains
Collagen IV NC1

Promoters
RGD ID:6790807
Promoter ID:HG_KWN:18543
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:ENST00000257309,   ENST00000298721,   ENST00000360467,   ENST00000360859,   ENST00000375815,   ENST00000397198,   ENST00000400163,   NM_001845,   OTTHUMT00000312858,   UC010AGL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3613109,757,279 - 109,757,779 (+)MPROMDB
RGD ID:6810480
Promoter ID:HG_ACW:21639
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:COL4A2.IAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 3613109,921,969 - 109,922,469 (+)MPROMDB
RGD ID:6790763
Promoter ID:HG_KWN:18551
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:OTTHUMT00000045763
Position:
Human AssemblyChrPosition (strand)Source
Build 3613109,957,364 - 109,957,864 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001846.4(COL4A2):c.1776+1G>T single nucleotide variant not provided [RCV000519501] Chr13:110462385 [GRCh38]
Chr13:111114732 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.3455G>A (p.Gly1152Asp) single nucleotide variant Porencephaly 2 [RCV000022467] Chr13:110492070 [GRCh38]
Chr13:111144417 [GRCh37]
Chr13:13q34
pathogenic
NM_001846.4(COL4A2):c.3110G>A (p.Gly1037Glu) single nucleotide variant Porencephaly 2 [RCV000022468] Chr13:110485739 [GRCh38]
Chr13:111138086 [GRCh37]
Chr13:13q34
pathogenic
NM_001846.4(COL4A2):c.3368A>G (p.Glu1123Gly) single nucleotide variant Hemorrhage, intracerebral, susceptibility to [RCV000022469]|Porencephaly 2 [RCV000989166]|not provided [RCV000439782] Chr13:110491254 [GRCh38]
Chr13:111143601 [GRCh37]
Chr13:13q34
risk factor|benign|likely benign
NM_001846.4(COL4A2):c.3448C>A (p.Gln1150Lys) single nucleotide variant Hemorrhage, intracerebral, susceptibility to [RCV000022470]|Porencephaly 2 [RCV000989167]|not provided [RCV000947547] Chr13:110491334 [GRCh38]
Chr13:111143681 [GRCh37]
Chr13:13q34
risk factor|benign|likely benign
NM_001846.4(COL4A2):c.5068G>A (p.Ala1690Thr) single nucleotide variant Hemorrhage, intracerebral, susceptibility to [RCV000022471]|Porencephaly 2 [RCV000989168]|not provided [RCV000897161] Chr13:110512120 [GRCh38]
Chr13:111164467 [GRCh37]
Chr13:13q34
risk factor|benign|likely benign
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34
pathogenic
NM_001846.4(COL4A2):c.3272-89T>C single nucleotide variant not provided [RCV001571477] Chr13:110489622 [GRCh38]
Chr13:111141969 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.4595-112C>G single nucleotide variant not provided [RCV001564557] Chr13:110507823 [GRCh38]
Chr13:111160170 [GRCh37]
Chr13:13q34
likely benign
NM_001846.2(COL4A2):c.181-11754A>C single nucleotide variant Lung cancer [RCV000097734] Chr13:110412980 [GRCh38]
Chr13:111065327 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.2(COL4A2):c.181-11721G>C single nucleotide variant Lung cancer [RCV000097735] Chr13:110413013 [GRCh38]
Chr13:111065360 [GRCh37]
Chr13:13q34
uncertain significance
GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050921]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050921]|See cases [RCV000050921] Chr13:107918132..114327173 [GRCh38]
Chr13:108570480..115092648 [GRCh37]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1 copy number loss See cases [RCV000050922] Chr13:107918132..114327173 [GRCh38]
Chr13:108570480..115092648 [GRCh37]
Chr13:107368481..114110750 [NCBI36]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q33.3-34(chr13:108743171-114327173)x1 copy number loss See cases [RCV000050540] Chr13:108743171..114327173 [GRCh38]
Chr13:109395519..115085141 [GRCh37]
Chr13:108193520..114110750 [NCBI36]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q33.2-34(chr13:104461586-114327173)x1 copy number loss See cases [RCV000051448] Chr13:104461586..114327173 [GRCh38]
Chr13:105113936..115085141 [GRCh37]
Chr13:103911937..114110750 [NCBI36]
Chr13:13q33.2-34
pathogenic
GRCh38/hg38 13q33.2-34(chr13:104698508-114327173)x1 copy number loss See cases [RCV000051449] Chr13:104698508..114327173 [GRCh38]
Chr13:105350859..115085141 [GRCh37]
Chr13:104148860..114110750 [NCBI36]
Chr13:13q33.2-34
pathogenic
GRCh38/hg38 13q33.2-34(chr13:105571072-114327314)x1 copy number loss See cases [RCV000051450] Chr13:105571072..114327314 [GRCh38]
Chr13:106223421..115085141 [GRCh37]
Chr13:105021422..114110891 [NCBI36]
Chr13:13q33.2-34
pathogenic
GRCh38/hg38 13q33.2-34(chr13:106043720-110366226)x1 copy number loss See cases [RCV000051451] Chr13:106043720..110366226 [GRCh38]
Chr13:106696069..111018573 [GRCh37]
Chr13:105494070..109816574 [NCBI36]
Chr13:13q33.2-34
pathogenic
GRCh38/hg38 13q33.3-34(chr13:107168805-114327314)x1 copy number loss See cases [RCV000051452] Chr13:107168805..114327314 [GRCh38]
Chr13:107821153..115085141 [GRCh37]
Chr13:106619154..114110891 [NCBI36]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:82581008-114327173)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|See cases [RCV000051380] Chr13:82581008..114327173 [GRCh38]
Chr13:83155143..115085141 [GRCh37]
Chr13:82053144..114110750 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q31.3-34(chr13:91366227-114327314)x1 copy number loss See cases [RCV000051418] Chr13:91366227..114327314 [GRCh38]
Chr13:92018481..115085141 [GRCh37]
Chr13:90816482..114110891 [NCBI36]
Chr13:13q31.3-34
pathogenic
GRCh38/hg38 13q32.3-34(chr13:101049614-114327314)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051421]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051421]|See cases [RCV000051421] Chr13:101049614..114327314 [GRCh38]
Chr13:101587036..115085141 [GRCh37]
Chr13:100385037..114110891 [NCBI36]
Chr13:13q32.3-34
pathogenic
GRCh38/hg38 13q33.1-34(chr13:101537045-114327173)x1 copy number loss See cases [RCV000051422] Chr13:101537045..114327173 [GRCh38]
Chr13:102189396..115085141 [GRCh37]
Chr13:100987397..114110750 [NCBI36]
Chr13:13q33.1-34
pathogenic
GRCh38/hg38 13q33.1-34(chr13:102114025-114327173)x1 copy number loss See cases [RCV000051423] Chr13:102114025..114327173 [GRCh38]
Chr13:102766375..115085141 [GRCh37]
Chr13:101564376..114110750 [NCBI36]
Chr13:13q33.1-34
pathogenic
GRCh38/hg38 13q33.2-34(chr13:106157165-114327173)x1 copy number loss See cases [RCV000051180] Chr13:106157165..114327173 [GRCh38]
Chr13:106809514..115085141 [GRCh37]
Chr13:105607515..114110750 [NCBI36]
Chr13:13q33.2-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q32.3-34(chr13:99472316-114293545)x3 copy number gain See cases [RCV000053792] Chr13:99472316..114293545 [GRCh38]
Chr13:100124570..115059020 [GRCh37]
Chr13:98922571..114077122 [NCBI36]
Chr13:13q32.3-34
pathogenic
GRCh38/hg38 13q14.11-34(chr13:43219125-114327314)x3 copy number gain See cases [RCV000053762] Chr13:43219125..114327314 [GRCh38]
Chr13:43793261..115085141 [GRCh37]
Chr13:42691261..114110891 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3 copy number gain See cases [RCV000053795] Chr13:100039860..114327173 [GRCh38]
Chr13:100692114..115085141 [GRCh37]
Chr13:99490115..114110750 [NCBI36]
Chr13:13q32.3-34
pathogenic
GRCh38/hg38 13q33.3-34(chr13:109162657-114327314)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053797]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053797]|See cases [RCV000053797] Chr13:109162657..114327314 [GRCh38]
Chr13:109815005..115085141 [GRCh37]
Chr13:108613006..114110891 [NCBI36]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3 copy number gain See cases [RCV000053764] Chr13:44164751..114327173 [GRCh38]
Chr13:44738887..115085141 [GRCh37]
Chr13:43636887..114110750 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3 copy number gain See cases [RCV000053767] Chr13:44733046..114327173 [GRCh38]
Chr13:45307182..115085141 [GRCh37]
Chr13:44205182..114110750 [NCBI36]
Chr13:13q14.12-34
pathogenic
GRCh38/hg38 13q22.1-34(chr13:74345951-114327314)x3 copy number gain See cases [RCV000053770] Chr13:74345951..114327314 [GRCh38]
Chr13:74920088..115085141 [GRCh37]
Chr13:73818089..114110891 [NCBI36]
Chr13:13q22.1-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:80628584-114327173)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|See cases [RCV000053772] Chr13:80628584..114327173 [GRCh38]
Chr13:81202719..115085141 [GRCh37]
Chr13:80100720..114110750 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 copy number gain See cases [RCV000053759] Chr13:33528097..114327173 [GRCh38]
Chr13:34102234..115085141 [GRCh37]
Chr13:33000234..114110750 [NCBI36]
Chr13:13q13.2-34
pathogenic
NM_001846.2(COL4A2):c.431C>T (p.Ser144Leu) single nucleotide variant Malignant melanoma [RCV000070288] Chr13:110428537 [GRCh38]
Chr13:111080884 [GRCh37]
Chr13:109878885 [NCBI36]
Chr13:13q34
not provided
NM_001846.2(COL4A2):c.1111C>T (p.Gln371Ter) single nucleotide variant Malignant melanoma [RCV000070289] Chr13:110449711 [GRCh38]
Chr13:111102058 [GRCh37]
Chr13:109900059 [NCBI36]
Chr13:13q34
not provided
NM_001846.4(COL4A2):c.3258G>A (p.Ala1086=) single nucleotide variant not provided [RCV000924594] Chr13:110489495 [GRCh38]
Chr13:111141842 [GRCh37]
Chr13:109939843 [NCBI36]
Chr13:13q34
likely benign|not provided
NM_001846.2(COL4A2):c.4157G>A (p.Gly1386Glu) single nucleotide variant Malignant melanoma [RCV000070291] Chr13:110503865 [GRCh38]
Chr13:111156212 [GRCh37]
Chr13:109954213 [NCBI36]
Chr13:13q34
not provided
NM_001846.2(COL4A2):c.3921T>C (p.Pro1307=) single nucleotide variant Malignant melanoma [RCV000062638] Chr13:110503164 [GRCh38]
Chr13:111155511 [GRCh37]
Chr13:109953512 [NCBI36]
Chr13:13q34
not provided
NM_001846.4(COL4A2):c.4291C>T (p.Arg1431Cys) single nucleotide variant Vascular dementia [RCV001263181] Chr13:110504153 [GRCh38]
Chr13:111156500 [GRCh37]
Chr13:109954501 [NCBI36]
Chr13:13q34
uncertain significance|not provided
NM_001846.2(COL4A2):c.4464C>T (p.Ile1488=) single nucleotide variant Malignant melanoma [RCV000062640] Chr13:110506476 [GRCh38]
Chr13:111158823 [GRCh37]
Chr13:109956824 [NCBI36]
Chr13:13q34
not provided
GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x3 copy number gain See cases [RCV000050921] Chr13:107918132..114327173 [GRCh38]
Chr13:108570480..115085141 [GRCh37]
Chr13:107368481..114110750 [NCBI36]
Chr13:13q33.3-34
pathogenic
NM_001846.4(COL4A2):c.4981G>A (p.Gly1661Ser) single nucleotide variant Porencephaly 2 [RCV001291633] Chr13:110512033 [GRCh38]
Chr13:111164380 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.4147G>A (p.Gly1383Arg) single nucleotide variant Inborn genetic diseases [RCV000190797]|Porencephaly 2 [RCV000761267]|not provided [RCV001579761] Chr13:110503855 [GRCh38]
Chr13:111156202 [GRCh37]
Chr13:13q34
likely pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3 copy number gain See cases [RCV000137102] Chr13:88937651..114327173 [GRCh38]
Chr13:89589905..115085141 [GRCh37]
Chr13:88387906..114110750 [NCBI36]
Chr13:13q31.2-34
pathogenic
GRCh38/hg38 13q34(chr13:109862835-110921746)x3 copy number gain See cases [RCV000136625] Chr13:109862835..110921746 [GRCh38]
Chr13:110515182..111574093 [GRCh37]
Chr13:109313183..110372094 [NCBI36]
Chr13:13q34
uncertain significance
GRCh38/hg38 13q33.1-34(chr13:101868708-114293545)x3 copy number gain See cases [RCV000136805] Chr13:101868708..114293545 [GRCh38]
Chr13:102521058..115059020 [GRCh37]
Chr13:101319059..114077122 [NCBI36]
Chr13:13q33.1-34
pathogenic
GRCh38/hg38 13q33.3-34(chr13:107075477-114340331)x1 copy number loss See cases [RCV000137684] Chr13:107075477..114340331 [GRCh38]
Chr13:107727825..115085141 [GRCh37]
Chr13:106525826..114123908 [NCBI36]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q33.1-34(chr13:102883322-114340331)x1 copy number loss See cases [RCV000137823] Chr13:102883322..114340331 [GRCh38]
Chr13:103535672..115085141 [GRCh37]
Chr13:102333673..114123908 [NCBI36]
Chr13:13q33.1-34
pathogenic
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 copy number loss See cases [RCV000137893] Chr13:40942298..114340331 [GRCh38]
Chr13:41516434..115085141 [GRCh37]
Chr13:40414434..114123908 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3 copy number gain See cases [RCV000138742] Chr13:78999318..114327106 [GRCh38]
Chr13:79573453..115085141 [GRCh37]
Chr13:78471454..114110683 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1 copy number loss See cases [RCV000138340] Chr13:86788927..114340331 [GRCh38]
Chr13:87441182..115085141 [GRCh37]
Chr13:86239183..114123908 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q32.1-34(chr13:95744855-110863818)x3 copy number gain See cases [RCV000139021] Chr13:95744855..110863818 [GRCh38]
Chr13:96397109..111516165 [GRCh37]
Chr13:95195110..110314166 [NCBI36]
Chr13:13q32.1-34
pathogenic
GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3 copy number gain See cases [RCV000139160] Chr13:96745059..114327106 [GRCh38]
Chr13:97397313..115085141 [GRCh37]
Chr13:96195314..114110683 [NCBI36]
Chr13:13q32.1-34
pathogenic
GRCh38/hg38 13q33.2-34(chr13:105861075-114342258)x1 copy number loss See cases [RCV000140449] Chr13:105861075..114342258 [GRCh38]
Chr13:106513424..115107733 [GRCh37]
Chr13:105311425..114125835 [NCBI36]
Chr13:13q33.2-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q33.1-34(chr13:101762788-114340285)x3 copy number gain See cases [RCV000141331] Chr13:101762788..114340285 [GRCh38]
Chr13:102415138..115105760 [GRCh37]
Chr13:101213139..114123862 [NCBI36]
Chr13:13q33.1-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3 copy number gain See cases [RCV000141248] Chr13:78964223..114340331 [GRCh38]
Chr13:79538358..115085141 [GRCh37]
Chr13:78436359..114123908 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q33.3-34(chr13:107708655-112101112)x1 copy number loss See cases [RCV000141465] Chr13:107708655..112101112 [GRCh38]
Chr13:108361003..112755426 [GRCh37]
Chr13:107159004..111803427 [NCBI36]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3 copy number gain See cases [RCV000141804] Chr13:83288131..114342258 [GRCh38]
Chr13:83862266..115107733 [GRCh37]
Chr13:82760267..114125835 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q33.1-34(chr13:103914488-110857896)x3 copy number gain See cases [RCV000143101] Chr13:103914488..110857896 [GRCh38]
Chr13:104566838..111510243 [GRCh37]
Chr13:103364839..110308244 [NCBI36]
Chr13:13q33.1-34
uncertain significance
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q33.2-34(chr13:104968135-114340331)x1 copy number loss See cases [RCV000143330] Chr13:104968135..114340331 [GRCh38]
Chr13:105620486..115085141 [GRCh37]
Chr13:104418487..114123908 [NCBI36]
Chr13:13q33.2-34
pathogenic
GRCh38/hg38 13q33.2-34(chr13:105423935-114342258)x3 copy number gain See cases [RCV000143556] Chr13:105423935..114342258 [GRCh38]
Chr13:106076284..115107733 [GRCh37]
Chr13:104874285..114125835 [NCBI36]
Chr13:13q33.2-34
uncertain significance
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1 copy number loss See cases [RCV000148262] Chr13:107918132..114327173 [GRCh38]
Chr13:108570480..115085141 [GRCh37]
Chr13:107368481..114110750 [NCBI36]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
NM_001846.4(COL4A2):c.649-16C>T single nucleotide variant not provided [RCV000513778] Chr13:110432309 [GRCh38]
Chr13:111084656 [GRCh37]
Chr13:13q34
benign
GRCh37/hg19 13q31.2-34(chr13:89796110-115083342)x1 copy number loss See cases [RCV000240161] Chr13:89796110..115083342 [GRCh37]
Chr13:13q31.2-34
pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34
pathogenic
NM_001846.4(COL4A2):c.2102A>G (p.Lys701Arg) single nucleotide variant Porencephaly 2 [RCV000339830]|not provided [RCV000224185] Chr13:110469223 [GRCh38]
Chr13:111121570 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.382C>T (p.Pro128Ser) single nucleotide variant not provided [RCV000521004] Chr13:110428488 [GRCh38]
Chr13:111080835 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.1776+1G>A single nucleotide variant Porencephaly 2 [RCV000850253]|not provided [RCV000256038] Chr13:110462385 [GRCh38]
Chr13:111114732 [GRCh37]
Chr13:13q34
pathogenic|likely pathogenic|uncertain significance
NM_001846.4(COL4A2):c.2546A>C (p.Gln849Pro) single nucleotide variant not provided [RCV000519433] Chr13:110478123 [GRCh38]
Chr13:111130470 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.1414G>A (p.Gly472Arg) single nucleotide variant not provided [RCV000522001] Chr13:110457417 [GRCh38]
Chr13:111109764 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.2894G>A (p.Gly965Asp) single nucleotide variant not provided [RCV000521727] Chr13:110482651 [GRCh38]
Chr13:111134998 [GRCh37]
Chr13:13q34
likely pathogenic
NM_001846.4(COL4A2):c.4146C>T (p.Pro1382=) single nucleotide variant Porencephaly 2 [RCV000301744]|not provided [RCV000886256] Chr13:110503854 [GRCh38]
Chr13:111156201 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.1655C>A (p.Thr552Lys) single nucleotide variant Porencephaly 2 [RCV000301385]|not provided [RCV000957189] Chr13:110462172 [GRCh38]
Chr13:111114519 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.1339+14A>G single nucleotide variant Porencephaly 2 [RCV000344999] Chr13:110450468 [GRCh38]
Chr13:111102815 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.576C>T (p.Val192=) single nucleotide variant Porencephaly 2 [RCV000283111]|not provided [RCV000888165] Chr13:110430427 [GRCh38]
Chr13:111082774 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.*280C>G single nucleotide variant Porencephaly 2 [RCV000283201] Chr13:110512471 [GRCh38]
Chr13:111164818 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.4882-7T>C single nucleotide variant Porencephaly 2 [RCV000301333]|not provided [RCV000969643] Chr13:110511927 [GRCh38]
Chr13:111164274 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.2095+9C>T single nucleotide variant Porencephaly 2 [RCV000284805] Chr13:110467105 [GRCh38]
Chr13:111119452 [GRCh37]
Chr13:13q34
benign|uncertain significance
NM_001846.4(COL4A2):c.684+8G>A single nucleotide variant Porencephaly 2 [RCV000395713]|not provided [RCV000923897] Chr13:110432368 [GRCh38]
Chr13:111084715 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.4776G>T (p.Val1592=) single nucleotide variant Porencephaly 2 [RCV000286091]|not provided [RCV000885282] Chr13:110508116 [GRCh38]
Chr13:111160463 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.2444G>C (p.Gly815Ala) single nucleotide variant Porencephaly 2 [RCV000397527] Chr13:110478021 [GRCh38]
Chr13:111130368 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.3396C>T (p.Phe1132=) single nucleotide variant Porencephaly 2 [RCV000373197]|not provided [RCV000899268] Chr13:110491282 [GRCh38]
Chr13:111143629 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.862-5C>T single nucleotide variant Porencephaly 2 [RCV000399097] Chr13:110438613 [GRCh38]
Chr13:111090960 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.4096G>A (p.Asp1366Asn) single nucleotide variant Porencephaly 2 [RCV000400289]|Seizures [RCV001281446]|not provided [RCV000934968] Chr13:110503439 [GRCh38]
Chr13:111155786 [GRCh37]
Chr13:13q34
benign|likely benign|uncertain significance
NM_001846.4(COL4A2):c.*727G>C single nucleotide variant Porencephaly 2 [RCV000268815] Chr13:110512918 [GRCh38]
Chr13:111165265 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.*76T>C single nucleotide variant Porencephaly 2 [RCV000286656] Chr13:110512267 [GRCh38]
Chr13:111164614 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.732C>T (p.Asp244=) single nucleotide variant Porencephaly 2 [RCV000305606]|not provided [RCV000889022] Chr13:110436274 [GRCh38]
Chr13:111088621 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.5111G>T (p.Arg1704Leu) single nucleotide variant Porencephaly 2 [RCV000326433] Chr13:110512163 [GRCh38]
Chr13:111164510 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.2587+8C>T single nucleotide variant Porencephaly 2 [RCV000350640]|not provided [RCV001512399] Chr13:110478172 [GRCh38]
Chr13:111130519 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.2152C>T (p.Pro718Ser) single nucleotide variant Porencephaly 2 [RCV000375113]|not provided [RCV000836662] Chr13:110469273 [GRCh38]
Chr13:111121620 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.2004C>T (p.Ala668=) single nucleotide variant Porencephaly 2 [RCV000269704]|not provided [RCV000923659] Chr13:110466028 [GRCh38]
Chr13:111118375 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.1978+10A>G single nucleotide variant Porencephaly 2 [RCV000327890] Chr13:110465616 [GRCh38]
Chr13:111117963 [GRCh37]
Chr13:13q34
likely benign|uncertain significance
NM_001846.4(COL4A2):c.5085C>T (p.Ala1695=) single nucleotide variant Acquired porencephaly [RCV000271202]|not provided [RCV000932670] Chr13:110512137 [GRCh38]
Chr13:111164484 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.4683C>T (p.Asn1561=) single nucleotide variant Porencephaly 2 [RCV000289707] Chr13:110508023 [GRCh38]
Chr13:111160370 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.1328C>G (p.Pro443Arg) single nucleotide variant Porencephaly 2 [RCV000290038]|not provided [RCV000912243] Chr13:110450443 [GRCh38]
Chr13:111102790 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.3455-14G>A single nucleotide variant Porencephaly 2 [RCV000352134] Chr13:110492056 [GRCh38]
Chr13:111144403 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.3087C>T (p.Pro1029=) single nucleotide variant Porencephaly 2 [RCV000271418] Chr13:110485716 [GRCh38]
Chr13:111138063 [GRCh37]
Chr13:13q34
benign|uncertain significance
NM_001846.4(COL4A2):c.1948C>T (p.Pro650Ser) single nucleotide variant Optic nerve hypoplasia [RCV000677262]|Porencephaly 2 [RCV000272784]|not provided [RCV000909731] Chr13:110465576 [GRCh38]
Chr13:111117923 [GRCh37]
Chr13:13q34
benign|likely benign|uncertain significance
NM_001846.4(COL4A2):c.*25T>C single nucleotide variant Porencephaly 2 [RCV000381085] Chr13:110512216 [GRCh38]
Chr13:111164563 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.912+9C>T single nucleotide variant Porencephaly 2 [RCV000273982]|not provided [RCV001518574] Chr13:110438677 [GRCh38]
Chr13:111091024 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.1208C>T (p.Pro403Leu) single nucleotide variant Porencephaly 2 [RCV000293652] Chr13:110450323 [GRCh38]
Chr13:111102670 [GRCh37]
Chr13:13q34
likely benign|uncertain significance
NM_001846.4(COL4A2):c.3634+4C>T single nucleotide variant Porencephaly 2 [RCV000293730]|not provided [RCV000836769] Chr13:110493286 [GRCh38]
Chr13:111145633 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.315+14G>T single nucleotide variant Porencephaly 2 [RCV000382722] Chr13:110424882 [GRCh38]
Chr13:111077229 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.4617G>A (p.Ala1539=) single nucleotide variant Porencephaly 2 [RCV000383562]|not provided [RCV000839063] Chr13:110507957 [GRCh38]
Chr13:111160304 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.4987G>A (p.Gly1663Ser) single nucleotide variant Optic nerve hypoplasia [RCV000677259]|Porencephaly 2 [RCV000274759]|not provided [RCV000892490] Chr13:110512039 [GRCh38]
Chr13:111164386 [GRCh37]
Chr13:13q34
likely pathogenic|benign|likely benign
NM_001846.4(COL4A2):c.4561G>A (p.Glu1521Lys) single nucleotide variant Porencephaly 2 [RCV000293231] Chr13:110506573 [GRCh38]
Chr13:111158920 [GRCh37]
Chr13:13q34
likely benign|uncertain significance
NM_001846.4(COL4A2):c.4436C>T (p.Pro1479Leu) single nucleotide variant Porencephaly 2 [RCV000277848] Chr13:110506448 [GRCh38]
Chr13:111158795 [GRCh37]
Chr13:13q34
benign|uncertain significance
NM_001846.4(COL4A2):c.1308C>T (p.Pro436=) single nucleotide variant Porencephaly 2 [RCV000384397]|not provided [RCV000893809] Chr13:110450423 [GRCh38]
Chr13:111102770 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.415G>A (p.Gly139Arg) single nucleotide variant Porencephaly 2 [RCV000294716] Chr13:110428521 [GRCh38]
Chr13:111080868 [GRCh37]
Chr13:13q34
likely benign|uncertain significance
NM_001846.4(COL4A2):c.4255A>G (p.Met1419Val) single nucleotide variant Porencephaly 2 [RCV000262550]|not provided [RCV000913585] Chr13:110503963 [GRCh38]
Chr13:111156310 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.*557A>G single nucleotide variant Porencephaly 2 [RCV000314922] Chr13:110512748 [GRCh38]
Chr13:111165095 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.*800G>A single nucleotide variant Porencephaly 2 [RCV000360052] Chr13:110512991 [GRCh38]
Chr13:111165338 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.1094C>T (p.Pro365Leu) single nucleotide variant Porencephaly 2 [RCV000259618] Chr13:110449694 [GRCh38]
Chr13:111102041 [GRCh37]
Chr13:13q34
benign|uncertain significance
NM_001846.4(COL4A2):c.1790A>G (p.Lys597Arg) single nucleotide variant Porencephaly 2 [RCV000276715] Chr13:110465418 [GRCh38]
Chr13:111117765 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.1179C>T (p.Ile393=) single nucleotide variant Porencephaly 2 [RCV000387950]|not provided [RCV000836722] Chr13:110449779 [GRCh38]
Chr13:111102126 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.3455-5C>G single nucleotide variant Porencephaly 2 [RCV000388024]|not provided [RCV000836768] Chr13:110492065 [GRCh38]
Chr13:111144412 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.*450G>T single nucleotide variant Porencephaly 2 [RCV000278584] Chr13:110512641 [GRCh38]
Chr13:111164988 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.549+15G>C single nucleotide variant Porencephaly 2 [RCV000279301]|not provided [RCV001523040] Chr13:110429971 [GRCh38]
Chr13:111082318 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.3346+7A>G single nucleotide variant Porencephaly 2 [RCV000264503]|not provided [RCV000906495] Chr13:110489792 [GRCh38]
Chr13:111142139 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.2317C>T (p.Pro773Ser) single nucleotide variant Acquired porencephaly [RCV000280551] Chr13:110473042 [GRCh38]
Chr13:111125389 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.*695T>C single nucleotide variant Porencephaly 2 [RCV000365967] Chr13:110512886 [GRCh38]
Chr13:111165233 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.5070C>T (p.Ala1690=) single nucleotide variant Porencephaly 2 [RCV000365783]|not provided [RCV000915089] Chr13:110512122 [GRCh38]
Chr13:111164469 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.2903-12A>G single nucleotide variant Porencephaly 2 [RCV000365978]|not provided [RCV000840369] Chr13:110484893 [GRCh38]
Chr13:111137240 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.*101_*102del deletion Acquired porencephaly [RCV000322953] Chr13:110512282..110512283 [GRCh38]
Chr13:111164629..111164630 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.3326G>A (p.Arg1109Gln) single nucleotide variant Porencephaly 2 [RCV000323020]|not provided [RCV000880334] Chr13:110489765 [GRCh38]
Chr13:111142112 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.4731C>T (p.Pro1577=) single nucleotide variant Porencephaly 2 [RCV000344668] Chr13:110508071 [GRCh38]
Chr13:111160418 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.3856C>T (p.Pro1286Ser) single nucleotide variant Porencephaly 2 [RCV000344932] Chr13:110501763 [GRCh38]
Chr13:111154110 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.1945C>T (p.Pro649Ser) single nucleotide variant Porencephaly 2 [RCV000367862]|not provided [RCV000929362] Chr13:110465573 [GRCh38]
Chr13:111117920 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.4985G>A (p.Arg1662His) single nucleotide variant Porencephaly 2 [RCV000369382] Chr13:110512037 [GRCh38]
Chr13:111164384 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.1550G>A (p.Arg517Lys) single nucleotide variant Porencephaly 2 [RCV000394894]|not provided [RCV000836661]|not specified [RCV001529643] Chr13:110458888 [GRCh38]
Chr13:111111235 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.1375G>A (p.Ala459Thr) single nucleotide variant Porencephaly 2 [RCV000394963]|not provided [RCV000948410] Chr13:110457378 [GRCh38]
Chr13:111109725 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.2039-3C>T single nucleotide variant Porencephaly 2 [RCV000324803]|not provided [RCV000960948] Chr13:110467037 [GRCh38]
Chr13:111119384 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.1008C>T (p.Pro336=) single nucleotide variant Porencephaly 2 [RCV000369813]|not provided [RCV000836659]|not specified [RCV001529390] Chr13:110445879 [GRCh38]
Chr13:111098226 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.4882-13C>G single nucleotide variant Porencephaly 2 [RCV000395335] Chr13:110511921 [GRCh38]
Chr13:111164268 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.3634+13G>A single nucleotide variant Porencephaly 2 [RCV000396211]|not provided [RCV001519376] Chr13:110493295 [GRCh38]
Chr13:111145642 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.316-5C>G single nucleotide variant Porencephaly 2 [RCV000272421] Chr13:110424948 [GRCh38]
Chr13:111077295 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.297G>A (p.Thr99=) single nucleotide variant Porencephaly 2 [RCV000325831]|not provided [RCV001522924] Chr13:110424850 [GRCh38]
Chr13:111077197 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.3634+12C>T single nucleotide variant Porencephaly 2 [RCV000348523]|not provided [RCV001545695] Chr13:110493294 [GRCh38]
Chr13:111145641 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.1777-7C>T single nucleotide variant Porencephaly 2 [RCV000371352]|not provided [RCV000839540] Chr13:110465398 [GRCh38]
Chr13:111117745 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.574G>T (p.Val192Phe) single nucleotide variant Porencephaly 2 [RCV000397389]|not provided [RCV000949368] Chr13:110430425 [GRCh38]
Chr13:111082772 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.*541C>T single nucleotide variant Porencephaly 2 [RCV000397445] Chr13:110512732 [GRCh38]
Chr13:111165079 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.*650T>C single nucleotide variant Porencephaly 2 [RCV000397455] Chr13:110512841 [GRCh38]
Chr13:111165188 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.2588-11C>T single nucleotide variant Porencephaly 2 [RCV000397536]|not provided [RCV000836829]|not specified [RCV001528599] Chr13:110480209 [GRCh38]
Chr13:111132556 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.*769G>A single nucleotide variant Porencephaly 2 [RCV000307601] Chr13:110512960 [GRCh38]
Chr13:111165307 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.*663T>C single nucleotide variant Porencephaly 2 [RCV000308964] Chr13:110512854 [GRCh38]
Chr13:111165201 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.888A>G (p.Gly296=) single nucleotide variant Porencephaly 2 [RCV000309102]|not provided [RCV000960546] Chr13:110438644 [GRCh38]
Chr13:111090991 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.3642C>T (p.Asp1214=) single nucleotide variant Porencephaly 2 [RCV000308762]|not provided [RCV000960547] Chr13:110495349 [GRCh38]
Chr13:111147696 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.4578G>A (p.Ala1526=) single nucleotide variant Porencephaly 2 [RCV000329550]|not provided [RCV000894566] Chr13:110506590 [GRCh38]
Chr13:111158937 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.1256C>T (p.Ala419Val) single nucleotide variant Porencephaly 2 [RCV000329824] Chr13:110450371 [GRCh38]
Chr13:111102718 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.4428G>A (p.Pro1476=) single nucleotide variant Porencephaly 2 [RCV000353776] Chr13:110506440 [GRCh38]
Chr13:111158787 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.4916C>T (p.Ser1639Leu) single nucleotide variant Porencephaly 2 [RCV000354257] Chr13:110511968 [GRCh38]
Chr13:111164315 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.4737C>T (p.Ala1579=) single nucleotide variant Porencephaly 2 [RCV000402849]|not provided [RCV000964523] Chr13:110508077 [GRCh38]
Chr13:111160424 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.2759-5T>C single nucleotide variant Porencephaly 2 [RCV000311051]|not provided [RCV000833023]|not specified [RCV001529751] Chr13:110482511 [GRCh38]
Chr13:111134858 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.4456G>A (p.Val1486Ile) single nucleotide variant Porencephaly 2 [RCV000332995]|not provided [RCV000900151] Chr13:110506468 [GRCh38]
Chr13:111158815 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.468C>T (p.Thr156=) single nucleotide variant Porencephaly 2 [RCV000333155] Chr13:110428574 [GRCh38]
Chr13:111080921 [GRCh37]
Chr13:13q34
benign|uncertain significance
NM_001846.4(COL4A2):c.1095G>A (p.Pro365=) single nucleotide variant Porencephaly 2 [RCV000333464]|not provided [RCV000836721] Chr13:110449695 [GRCh38]
Chr13:111102042 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.2048G>C (p.Gly683Ala) single nucleotide variant Porencephaly 2 [RCV000379310]|not provided [RCV000836723]|not specified [RCV001529383] Chr13:110467049 [GRCh38]
Chr13:111119396 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.*417C>G single nucleotide variant Porencephaly 2 [RCV000404461] Chr13:110512608 [GRCh38]
Chr13:111164955 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.4195G>A (p.Val1399Ile) single nucleotide variant Porencephaly 2 [RCV000356521]|not provided [RCV000840150] Chr13:110503903 [GRCh38]
Chr13:111156250 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.1979-6C>T single nucleotide variant Porencephaly 2 [RCV000382503]|not provided [RCV000842029] Chr13:110465997 [GRCh38]
Chr13:111118344 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.2429G>A (p.Ser810Asn) single nucleotide variant Porencephaly 2 [RCV000335701] Chr13:110478006 [GRCh38]
Chr13:111130353 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.*493C>G single nucleotide variant Porencephaly 2 [RCV000335971] Chr13:110512684 [GRCh38]
Chr13:111165031 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.2484T>C (p.Pro828=) single nucleotide variant Porencephaly 2 [RCV000314447]|not provided [RCV000894866] Chr13:110478061 [GRCh38]
Chr13:111130408 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.4968C>T (p.Ile1656=) single nucleotide variant Porencephaly 2 [RCV000314631]|not provided [RCV000976587] Chr13:110512020 [GRCh38]
Chr13:111164367 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.550-13T>C single nucleotide variant Porencephaly 2 [RCV000336739] Chr13:110430388 [GRCh38]
Chr13:111082735 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.4089G>A (p.Ala1363=) single nucleotide variant Porencephaly 2 [RCV000359805]|not provided [RCV000839215] Chr13:110503432 [GRCh38]
Chr13:111155779 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.*413_*414del deletion Acquired porencephaly [RCV000338281] Chr13:110512604..110512605 [GRCh38]
Chr13:111164951..111164952 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.395C>T (p.Pro132Leu) single nucleotide variant Porencephaly 2 [RCV000386592] Chr13:110428501 [GRCh38]
Chr13:111080848 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.*830T>C single nucleotide variant Porencephaly 2 [RCV000267502] Chr13:110513021 [GRCh38]
Chr13:111165368 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.4256T>C (p.Met1419Thr) single nucleotide variant Porencephaly 2 [RCV000317764]|not provided [RCV000953671] Chr13:110503964 [GRCh38]
Chr13:111156311 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.3234A>C (p.Ala1078=) single nucleotide variant Porencephaly 2 [RCV000362439]|not provided [RCV000969642] Chr13:110489471 [GRCh38]
Chr13:111141818 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.783C>A (p.Ile261=) single nucleotide variant Porencephaly 2 [RCV000362649] Chr13:110436325 [GRCh38]
Chr13:111088672 [GRCh37]
Chr13:13q34
likely benign|uncertain significance
NM_001846.4(COL4A2):c.4515A>G (p.Pro1505=) single nucleotide variant Porencephaly 2 [RCV000387441]|not provided [RCV000835694] Chr13:110506527 [GRCh38]
Chr13:111158874 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.3286A>G (p.Thr1096Ala) single nucleotide variant Porencephaly 2 [RCV000267977] Chr13:110489725 [GRCh38]
Chr13:111142072 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.-44-5T>C single nucleotide variant Porencephaly 2 [RCV000268402] Chr13:110307855 [GRCh38]
Chr13:110960202 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.594C>T (p.Pro198=) single nucleotide variant Porencephaly 2 [RCV000340405]|not provided [RCV000947546] Chr13:110430553 [GRCh38]
Chr13:111082900 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.1488G>A (p.Pro496=) single nucleotide variant Porencephaly 2 [RCV000341336]|not provided [RCV000836660]|not specified [RCV001529690] Chr13:110458826 [GRCh38]
Chr13:111111173 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.4882-15C>T single nucleotide variant Porencephaly 2 [RCV000341058] Chr13:110511919 [GRCh38]
Chr13:111164266 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.4929G>A (p.Pro1643=) single nucleotide variant Porencephaly 2 [RCV000390138]|not provided [RCV000888082] Chr13:110511981 [GRCh38]
Chr13:111164328 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.1738G>A (p.Asp580Asn) single nucleotide variant Porencephaly 2 [RCV000390182] Chr13:110462346 [GRCh38]
Chr13:111114693 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.3400G>A (p.Gly1134Arg) single nucleotide variant not provided [RCV000490216] Chr13:110491286 [GRCh38]
Chr13:111143633 [GRCh37]
Chr13:13q34
likely pathogenic
NM_001846.4(COL4A2):c.1727G>A (p.Ser576Asn) single nucleotide variant not provided [RCV000489475] Chr13:110462335 [GRCh38]
Chr13:111114682 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.2096-99C>T single nucleotide variant not provided [RCV001566216] Chr13:110469118 [GRCh38]
Chr13:111121465 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.913-1G>A single nucleotide variant not provided [RCV000487860] Chr13:110439788 [GRCh38]
Chr13:111092135 [GRCh37]
Chr13:13q34
likely pathogenic
NM_001846.4(COL4A2):c.3026-192T>C single nucleotide variant not provided [RCV001548245] Chr13:110485463 [GRCh38]
Chr13:111137810 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.361-5C>T single nucleotide variant Porencephaly 2 [RCV000329854] Chr13:110428462 [GRCh38]
Chr13:111080809 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.-101G>A single nucleotide variant Acquired porencephaly [RCV000344862]|Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps [RCV000308659]|Brain small vessel disease with hemorrhage [RCV000391146]|Porencephaly 2 [RCV001094166] Chr13:110307472 [GRCh38]
Chr13:110959819 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.992A>G (p.Asp331Gly) single nucleotide variant Porencephaly 2 [RCV000331421] Chr13:110445863 [GRCh38]
Chr13:111098210 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.1868T>A (p.Leu623Gln) single nucleotide variant Porencephaly 2 [RCV000331873] Chr13:110465496 [GRCh38]
Chr13:111117843 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.4040-11_4040-8del microsatellite Acquired porencephaly [RCV000305363] Chr13:110503368..110503371 [GRCh38]
Chr13:111155715..111155718 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.*563A>G single nucleotide variant Porencephaly 2 [RCV000348623] Chr13:110512754 [GRCh38]
Chr13:111165101 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.907C>T (p.Leu303=) single nucleotide variant Acquired porencephaly [RCV000366192] Chr13:110438663 [GRCh38]
Chr13:111091010 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.3208-14A>G single nucleotide variant Porencephaly 2 [RCV000307718] Chr13:110489431 [GRCh38]
Chr13:111141778 [GRCh37]
Chr13:13q34
uncertain significance
NM_001845.6(COL4A1):c.19G>C (p.Val7Leu) single nucleotide variant Acquired porencephaly [RCV000305275]|Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps [RCV000259549]|Brain small vessel disease 1 with or without ocular anomalies [RCV001094165]|Brain small vessel disease with hemorrhage [RCV000298310]|not provided [RCV001515223]|not specified [RCV000173263] Chr13:110307009 [GRCh38]
Chr13:110959356 [GRCh37]
Chr13:13q34
benign
NM_001845.6(COL4A1):c.-13C>G single nucleotide variant Acquired porencephaly [RCV000341399]|Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps [RCV000320399]|Brain small vessel disease 1 with or without ocular anomalies [RCV001112457]|Brain small vessel disease with hemorrhage [RCV000263022] Chr13:110307040 [GRCh38]
Chr13:110959387 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.-215C>T single nucleotide variant Acquired porencephaly [RCV000263402]|Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps [RCV000385884]|Brain small vessel disease with hemorrhage [RCV000319008]|Porencephaly 2 [RCV001094101] Chr13:110307358 [GRCh38]
Chr13:110959705 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.-203T>C single nucleotide variant Acquired porencephaly [RCV000264613]|Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps [RCV000373619]|Brain small vessel disease with hemorrhage [RCV000279148]|Porencephaly 2 [RCV001094102] Chr13:110307370 [GRCh38]
Chr13:110959717 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.1451G>C (p.Arg484Thr) single nucleotide variant Porencephaly 2 [RCV000286317] Chr13:110458789 [GRCh38]
Chr13:111111136 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.1772C>G (p.Pro591Arg) single nucleotide variant Porencephaly 2 [RCV000297788] Chr13:110462380 [GRCh38]
Chr13:111114727 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.549+5G>A single nucleotide variant Porencephaly 2 [RCV000371442] Chr13:110429961 [GRCh38]
Chr13:111082308 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.-277A>C single nucleotide variant Acquired porencephaly [RCV000270652]|Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps [RCV000365296]|Brain small vessel disease with hemorrhage [RCV000307011]|Porencephaly 2 [RCV001094085] Chr13:110307296 [GRCh38]
Chr13:110959643 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.1706G>A (p.Gly569Glu) single nucleotide variant Porencephaly 2 [RCV000356149] Chr13:110462314 [GRCh38]
Chr13:111114661 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.-232C>G single nucleotide variant Acquired porencephaly [RCV000299822]|Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps [RCV000276341]|Brain small vessel disease with hemorrhage [RCV000331461]|Porencephaly 2 [RCV001094100] Chr13:110307341 [GRCh38]
Chr13:110959688 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.-133A>G single nucleotide variant Acquired porencephaly [RCV000303409]|Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps [RCV000285021]|Brain small vessel disease with hemorrhage [RCV000339993]|Porencephaly 2 [RCV001094103] Chr13:110307440 [GRCh38]
Chr13:110959787 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.*242C>T single nucleotide variant Porencephaly 2 [RCV000377704] Chr13:110512433 [GRCh38]
Chr13:111164780 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.3332C>T (p.Thr1111Ile) single nucleotide variant Porencephaly 2 [RCV000377742] Chr13:110489771 [GRCh38]
Chr13:111142118 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.3915T>C (p.Ala1305=) single nucleotide variant Porencephaly 2 [RCV000396226] Chr13:110503158 [GRCh38]
Chr13:111155505 [GRCh37]
Chr13:13q34
uncertain significance
NM_001845.6(COL4A1):c.-90G>T single nucleotide variant Acquired porencephaly [RCV000293049]|Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps [RCV000350326]|Brain small vessel disease 1 with or without ocular anomalies [RCV000385183] Chr13:110307117 [GRCh38]
Chr13:110959464 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.2090_2091del (p.Pro697fs) deletion not provided [RCV000627496] Chr13:110467089..110467090 [GRCh38]
Chr13:111119436..111119437 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.5018G>C (p.Ser1673Thr) single nucleotide variant not provided [RCV000585157] Chr13:110512070 [GRCh38]
Chr13:111164417 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.3490G>A (p.Gly1164Arg) single nucleotide variant not provided [RCV000416075] Chr13:110492105 [GRCh38]
Chr13:111144452 [GRCh37]
Chr13:13q34
pathogenic
NM_001846.4(COL4A2):c.2698C>T (p.His900Tyr) single nucleotide variant not provided [RCV000734238] Chr13:110480330 [GRCh38]
Chr13:111132677 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)x3 copy number gain See cases [RCV000449118] Chr13:61424168..115107733 [GRCh37]
Chr13:13q21.2-34
pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q31.3-34(chr13:94269729-115107733)x3 copy number gain See cases [RCV000447545] Chr13:94269729..115107733 [GRCh37]
Chr13:13q31.3-34
pathogenic
GRCh37/hg19 13q33.2-34(chr13:106941499-113674752)x3 copy number gain See cases [RCV000447024] Chr13:106941499..113674752 [GRCh37]
Chr13:13q33.2-34
uncertain significance
GRCh37/hg19 13q31.1-34(chr13:82221361-115092569)x3 copy number gain See cases [RCV000447429] Chr13:82221361..115092569 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q33.2-34(chr13:106450862-115107733)x1 copy number loss See cases [RCV000447192] Chr13:106450862..115107733 [GRCh37]
Chr13:13q33.2-34
pathogenic
GRCh37/hg19 13q32.3-34(chr13:101357397-115107733)x3 copy number gain See cases [RCV000447642] Chr13:101357397..115107733 [GRCh37]
Chr13:13q32.3-34
pathogenic
GRCh37/hg19 13q21.1-34(chr13:56431743-115107733) copy number gain See cases [RCV000510722] Chr13:56431743..115107733 [GRCh37]
Chr13:13q21.1-34
pathogenic
NM_001846.4(COL4A2):c.3257C>T (p.Ala1086Val) single nucleotide variant Porencephaly 2 [RCV001112811]|not provided [RCV000417915] Chr13:110489494 [GRCh38]
Chr13:111141841 [GRCh37]
Chr13:13q34
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001846.4(COL4A2):c.316-1G>C single nucleotide variant Porencephaly 2 [RCV000679958] Chr13:110424952 [GRCh38]
Chr13:111077299 [GRCh37]
Chr13:13q34
pathogenic
GRCh37/hg19 13q34(chr13:111058488-111317455)x3 copy number gain See cases [RCV000445721] Chr13:111058488..111317455 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
NM_001846.4(COL4A2):c.1898G>A (p.Gly633Asp) single nucleotide variant not provided [RCV000426149] Chr13:110465526 [GRCh38]
Chr13:111117873 [GRCh37]
Chr13:13q34
likely pathogenic
NM_001846.4(COL4A2):c.3920C>G (p.Pro1307Arg) single nucleotide variant Porencephaly 2 [RCV001110888]|not provided [RCV000429629] Chr13:110503163 [GRCh38]
Chr13:111155510 [GRCh37]
Chr13:13q34
benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)x1 copy number loss See cases [RCV000448405] Chr13:88073140..115107733 [GRCh37]
Chr13:13q31.2-34
pathogenic
GRCh37/hg19 13q33.2-34(chr13:106056749-115107733)x1 copy number loss See cases [RCV000448783] Chr13:106056749..115107733 [GRCh37]
Chr13:13q33.2-34
pathogenic
NM_001846.4(COL4A2):c.4058G>C (p.Gly1353Ala) single nucleotide variant not provided [RCV000480552] Chr13:110503401 [GRCh38]
Chr13:111155748 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.4850G>A (p.Arg1617Gln) single nucleotide variant Porencephaly 2 [RCV001110975]|not provided [RCV000485539] Chr13:110508190 [GRCh38]
Chr13:111160537 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.2530C>T (p.Pro844Ser) single nucleotide variant not provided [RCV000481798] Chr13:110478107 [GRCh38]
Chr13:111130454 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.1979-2A>C single nucleotide variant not provided [RCV000482337] Chr13:110466001 [GRCh38]
Chr13:111118348 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q33.1-34(chr13:103170306-115107733)x1 copy number loss See cases [RCV000512127] Chr13:103170306..115107733 [GRCh37]
Chr13:13q33.1-34
pathogenic
GRCh37/hg19 13q33.3-34(chr13:109151651-115107733)x1 copy number loss See cases [RCV000512069] Chr13:109151651..115107733 [GRCh37]
Chr13:13q33.3-34
pathogenic
NM_001846.4(COL4A2):c.4268G>C (p.Gly1423Ala) single nucleotide variant not provided [RCV000478453] Chr13:110503976 [GRCh38]
Chr13:111156323 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q33.1-34(chr13:103880953-115107733)x1 copy number loss See cases [RCV000510433] Chr13:103880953..115107733 [GRCh37]
Chr13:13q33.1-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
NM_001846.4(COL4A2):c.5007CAA[1] (p.Asn1670del) microsatellite not provided [RCV000523218] Chr13:110512059..110512061 [GRCh38]
Chr13:111164406..111164408 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q31.3-34(chr13:94474530-115107733)x1 copy number loss See cases [RCV000510535] Chr13:94474530..115107733 [GRCh37]
Chr13:13q31.3-34
pathogenic
GRCh37/hg19 13q21.33-34(chr13:71871468-115107733)x4 copy number gain See cases [RCV000510281] Chr13:71871468..115107733 [GRCh37]
Chr13:13q21.33-34
pathogenic
NM_001846.4(COL4A2):c.4039+1G>A single nucleotide variant not provided [RCV000497523] Chr13:110503283 [GRCh38]
Chr13:111155630 [GRCh37]
Chr13:13q34
likely pathogenic
NM_001846.4(COL4A2):c.3796G>T (p.Gly1266Trp) single nucleotide variant not provided [RCV000497776] Chr13:110501703 [GRCh38]
Chr13:111154050 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q31.1-34(chr13:80058840-115107733)x3 copy number gain See cases [RCV000510566] Chr13:80058840..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
NM_001846.4(COL4A2):c.4678C>T (p.Arg1560Trp) single nucleotide variant not provided [RCV000498178] Chr13:110508018 [GRCh38]
Chr13:111160365 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.360+6T>C single nucleotide variant not provided [RCV000493953] Chr13:110425003 [GRCh38]
Chr13:111077350 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
NM_001846.4(COL4A2):c.290G>A (p.Gly97Glu) single nucleotide variant Inborn genetic diseases [RCV000623549] Chr13:110424843 [GRCh38]
Chr13:111077190 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.551G>A (p.Gly184Asp) single nucleotide variant Joint hypermobility [RCV000626813] Chr13:110430402 [GRCh38]
Chr13:111082749 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q32.1-34(chr13:96586481-115107733)x1 copy number loss See cases [RCV000512257] Chr13:96586481..115107733 [GRCh37]
Chr13:13q32.1-34
pathogenic
GRCh37/hg19 13q31.1-34(chr13:83435292-115107733)x3 copy number gain See cases [RCV000512605] Chr13:83435292..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
NM_001846.4(COL4A2):c.3170dup (p.Gly1058fs) duplication not provided [RCV000512646] Chr13:110485793..110485794 [GRCh38]
Chr13:111138140..111138141 [GRCh37]
Chr13:13q34
likely pathogenic
NM_001846.4(COL4A2):c.4357G>T (p.Gly1453Ter) single nucleotide variant not provided [RCV000513067] Chr13:110504219 [GRCh38]
Chr13:111156566 [GRCh37]
Chr13:13q34
likely pathogenic
NM_001846.4(COL4A2):c.1776+13A>G single nucleotide variant Vasculitis [RCV000626812] Chr13:110462397 [GRCh38]
Chr13:111114744 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q31.1-34(chr13:85176519-115107733)x3 copy number gain See cases [RCV000512242] Chr13:85176519..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
NM_001846.4(COL4A2):c.403G>A (p.Asp135Asn) single nucleotide variant not provided [RCV000658252] Chr13:110428509 [GRCh38]
Chr13:111080856 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.2569G>A (p.Gly857Arg) single nucleotide variant not provided [RCV000658354] Chr13:110478146 [GRCh38]
Chr13:111130493 [GRCh37]
Chr13:13q34
likely pathogenic
NM_001846.4(COL4A2):c.2846C>T (p.Ala949Val) single nucleotide variant not provided [RCV000658683] Chr13:110482603 [GRCh38]
Chr13:111134950 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.2185G>A (p.Gly729Arg) single nucleotide variant Optic nerve hypoplasia [RCV000677256] Chr13:110469306 [GRCh38]
Chr13:111121653 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q34(chr13:110946122-111292044)x3 copy number gain not provided [RCV000683519] Chr13:110946122..111292044 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q34(chr13:110590097-111395766)x3 copy number gain not provided [RCV000683535] Chr13:110590097..111395766 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q33.3-34(chr13:109771548-115107733)x1 copy number loss not provided [RCV000683563] Chr13:109771548..115107733 [GRCh37]
Chr13:13q33.3-34
pathogenic
GRCh37/hg19 13q33.2-34(chr13:105389857-113467489)x1 copy number loss not provided [RCV000683567] Chr13:105389857..113467489 [GRCh37]
Chr13:13q33.2-34
pathogenic
GRCh37/hg19 13q33.3-34(chr13:108567578-115107733)x3 copy number gain not provided [RCV000683565] Chr13:108567578..115107733 [GRCh37]
Chr13:13q33.3-34
pathogenic
GRCh37/hg19 13q22.3-34(chr13:78590089-115107733)x3 copy number gain not provided [RCV000683571] Chr13:78590089..115107733 [GRCh37]
Chr13:13q22.3-34
pathogenic
GRCh37/hg19 13q33.3-34(chr13:108083664-115107733)x1 copy number loss not provided [RCV000683566] Chr13:108083664..115107733 [GRCh37]
Chr13:13q33.3-34
pathogenic
NM_001846.4(COL4A2):c.1777-56G>A single nucleotide variant not provided [RCV001567940] Chr13:110465349 [GRCh38]
Chr13:111117696 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.2039-95G>A single nucleotide variant not provided [RCV001574689] Chr13:110466945 [GRCh38]
Chr13:111119292 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.3455-315T>C single nucleotide variant not provided [RCV001530812] Chr13:110491755 [GRCh38]
Chr13:111144102 [GRCh37]
Chr13:13q34
benign
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q32.3-34(chr13:101075864-115105020)x1 copy number loss not provided [RCV000738357] Chr13:101075864..115105020 [GRCh37]
Chr13:13q32.3-34
pathogenic
GRCh37/hg19 13q34(chr13:110848498-111132556)x3 copy number gain not provided [RCV000738384] Chr13:110848498..111132556 [GRCh37]
Chr13:13q34
benign
GRCh37/hg19 13q34(chr13:110959350-110960146)x0 copy number loss not provided [RCV000738385] Chr13:110959350..110960146 [GRCh37]
Chr13:13q34
benign
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q33.1-34(chr13:104539503-115103529)x1 copy number loss not provided [RCV000750890] Chr13:104539503..115103529 [GRCh37]
Chr13:13q33.1-34
pathogenic
GRCh37/hg19 13q34(chr13:110959350-110961114)x0 copy number loss not provided [RCV000750902] Chr13:110959350..110961114 [GRCh37]
Chr13:13q34
benign
GRCh37/hg19 13q34(chr13:110959529-110961114)x1 copy number loss not provided [RCV000750903] Chr13:110959529..110961114 [GRCh37]
Chr13:13q34
benign
GRCh37/hg19 13q34(chr13:111152478-114527838)x1 copy number loss not provided [RCV000750904] Chr13:111152478..114527838 [GRCh37]
Chr13:13q34
pathogenic
NM_001846.4(COL4A2):c.5066C>T (p.Ser1689Phe) single nucleotide variant not provided [RCV001530130] Chr13:110512118 [GRCh38]
Chr13:111164465 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.3883C>T (p.Arg1295Trp) single nucleotide variant not provided [RCV000896030] Chr13:110503126 [GRCh38]
Chr13:111155473 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.4285+36G>A single nucleotide variant not provided [RCV001535067] Chr13:110504029 [GRCh38]
Chr13:111156376 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.2353G>A (p.Gly785Arg) single nucleotide variant not provided [RCV001566545] Chr13:110473078 [GRCh38]
Chr13:111125425 [GRCh37]
Chr13:13q34
likely pathogenic
NM_001846.4(COL4A2):c.3025+268G>A single nucleotide variant not provided [RCV001567039] Chr13:110485295 [GRCh38]
Chr13:111137642 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.4815G>C (p.Gln1605His) single nucleotide variant not provided [RCV000761861] Chr13:110508155 [GRCh38]
Chr13:111160502 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.1340-21_1340-20insGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTCATGCCCTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTCATGCCCTGC microsatellite not provided [RCV001551508] Chr13:110457271..110457272 [GRCh38]
Chr13:111109618..111109619 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.965G>A (p.Arg322Gln) single nucleotide variant not provided [RCV001573123] Chr13:110445836 [GRCh38]
Chr13:111098183 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.1012-1G>A single nucleotide variant not provided [RCV001058304] Chr13:110446797 [GRCh38]
Chr13:111099144 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.913-75G>A single nucleotide variant not provided [RCV001548140] Chr13:110439714 [GRCh38]
Chr13:111092061 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.2759-74C>G single nucleotide variant not provided [RCV001575130] Chr13:110482442 [GRCh38]
Chr13:111134789 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.3455-309G>C single nucleotide variant not provided [RCV001548473] Chr13:110491761 [GRCh38]
Chr13:111144108 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.4381C>G (p.Gln1461Glu) single nucleotide variant not provided [RCV001090434] Chr13:110504243 [GRCh38]
Chr13:111156590 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.5056G>T (p.Gly1686Cys) single nucleotide variant not provided [RCV001090435] Chr13:110512108 [GRCh38]
Chr13:111164455 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.2095+5T>C single nucleotide variant Porencephaly 2 [RCV001114088] Chr13:110467101 [GRCh38]
Chr13:111119448 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.2244C>T (p.Leu748=) single nucleotide variant Porencephaly 2 [RCV001110049]|not provided [RCV000923931] Chr13:110472969 [GRCh38]
Chr13:111125316 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.1422G>A (p.Lys474=) single nucleotide variant not provided [RCV000902451] Chr13:110457425 [GRCh38]
Chr13:111109772 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.242C>T (p.Pro81Leu) single nucleotide variant not provided [RCV000936493] Chr13:110424795 [GRCh38]
Chr13:111077142 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.3357A>C (p.Gly1119=) single nucleotide variant not provided [RCV000923164] Chr13:110491243 [GRCh38]
Chr13:111143590 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.2172C>T (p.Asp724=) single nucleotide variant not provided [RCV000903614] Chr13:110469293 [GRCh38]
Chr13:111121640 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.2856C>T (p.Phe952=) single nucleotide variant not provided [RCV000975972] Chr13:110482613 [GRCh38]
Chr13:111134960 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.2039-7T>C single nucleotide variant not provided [RCV000901496] Chr13:110467033 [GRCh38]
Chr13:111119380 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.1365A>G (p.Ala455=) single nucleotide variant not provided [RCV000942501] Chr13:110457368 [GRCh38]
Chr13:111109715 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.2343C>T (p.Pro781=) single nucleotide variant Porencephaly 2 [RCV001110050]|not provided [RCV000922178] Chr13:110473068 [GRCh38]
Chr13:111125415 [GRCh37]
Chr13:13q34
likely benign|uncertain significance
NM_001846.4(COL4A2):c.4953C>T (p.Arg1651=) single nucleotide variant not provided [RCV000943800] Chr13:110512005 [GRCh38]
Chr13:111164352 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.4275C>A (p.Pro1425=) single nucleotide variant not provided [RCV000901670] Chr13:110503983 [GRCh38]
Chr13:111156330 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.4212G>C (p.Val1404=) single nucleotide variant not provided [RCV000880298] Chr13:110503920 [GRCh38]
Chr13:111156267 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.4347C>T (p.Pro1449=) single nucleotide variant not provided [RCV000899931] Chr13:110504209 [GRCh38]
Chr13:111156556 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.1407A>G (p.Gly469=) single nucleotide variant not provided [RCV000902239] Chr13:110457410 [GRCh38]
Chr13:111109757 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.3686del (p.Gly1229fs) deletion not provided [RCV001044246] Chr13:110495392 [GRCh38]
Chr13:111147739 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.1758C>T (p.Pro586=) single nucleotide variant not provided [RCV000995094] Chr13:110462366 [GRCh38]
Chr13:111114713 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.4732G>A (p.Val1578Met) single nucleotide variant not provided [RCV000995095] Chr13:110508072 [GRCh38]
Chr13:111160419 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.2902+1G>A single nucleotide variant Porencephaly 2 [RCV001072141] Chr13:110482660 [GRCh38]
Chr13:111135007 [GRCh37]
Chr13:13q34
likely pathogenic
NC_000013.11:g.(?_110449679)_(110524197_?)dup duplication not provided [RCV001033670] Chr13:111102026..111176544 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.1340-1G>C single nucleotide variant Porencephaly 2 [RCV000779126] Chr13:110457342 [GRCh38]
Chr13:111109689 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.1597-1G>A single nucleotide variant Porencephaly 2 [RCV000779127] Chr13:110462113 [GRCh38]
Chr13:111114460 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q33.1-34(chr13:101881803-115091330) copy number gain not provided [RCV000767821] Chr13:101881803..115091330 [GRCh37]
Chr13:13q33.1-34
pathogenic
NM_001846.4(COL4A2):c.2331G>A (p.Leu777=) single nucleotide variant not provided [RCV000973734] Chr13:110473056 [GRCh38]
Chr13:111125403 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.1669+5G>C single nucleotide variant Porencephaly 2 [RCV001110750]|not provided [RCV000885281] Chr13:110462191 [GRCh38]
Chr13:111114538 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.3807= (p.Gly1269=) variation not provided [RCV000953530] Chr13:110501714 [GRCh38]
Chr13:111154061 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.2628T>C (p.Ala876=) single nucleotide variant not provided [RCV000898433] Chr13:110480260 [GRCh38]
Chr13:111132607 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.1395C>T (p.Pro465=) single nucleotide variant not provided [RCV000902319] Chr13:110457398 [GRCh38]
Chr13:111109745 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.669A>G (p.Gly223=) single nucleotide variant not provided [RCV000896849] Chr13:110432345 [GRCh38]
Chr13:111084692 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.735A>G (p.Val245=) single nucleotide variant not provided [RCV000976585] Chr13:110436277 [GRCh38]
Chr13:111088624 [GRCh37]
Chr13:13q34
likely benign
NC_000013.11:g.110465398C>T single nucleotide variant not provided [RCV000839540] Chr13:111117745 [GRCh37]
Chr13:13q34
benign
NC_000013.11:g.110465997C>T single nucleotide variant not provided [RCV000842029] Chr13:111118344 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.3993C>T (p.Ser1331=) single nucleotide variant not provided [RCV000976669] Chr13:110503236 [GRCh38]
Chr13:111155583 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.4494G>A (p.Thr1498=) single nucleotide variant not provided [RCV000915344] Chr13:110506506 [GRCh38]
Chr13:111158853 [GRCh37]
Chr13:13q34
likely benign
NC_000013.11:g.110482511T>C single nucleotide variant not provided [RCV000833023] Chr13:111134858 [GRCh37]
Chr13:13q34
benign
NC_000013.11:g.110484893A>G single nucleotide variant not provided [RCV000840369] Chr13:111137240 [GRCh37]
Chr13:13q34
benign
NC_000013.11:g.110492065C>G single nucleotide variant not provided [RCV000836768] Chr13:111144412 [GRCh37]
Chr13:13q34
benign
NC_000013.11:g.110493286C>T single nucleotide variant not provided [RCV000836769] Chr13:111145633 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.1545G>C (p.Gly515=) single nucleotide variant not provided [RCV000915606] Chr13:110458883 [GRCh38]
Chr13:111111230 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.4255_4256delinsGC (p.Met1419Ala) indel not provided [RCV000831395] Chr13:110503963..110503964 [GRCh38]
Chr13:111156310..111156311 [GRCh37]
Chr13:13q34
likely benign
NC_000013.11:g.110480209C>T single nucleotide variant not provided [RCV000836829] Chr13:111132556 [GRCh37]
Chr13:13q34
benign
GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1 copy number loss not provided [RCV001006567] Chr13:53262013..115107733 [GRCh37]
Chr13:13q14.3-34
pathogenic
NM_001846.4(COL4A2):c.313G>A (p.Val105Met) single nucleotide variant Porencephaly 2 [RCV000784946] Chr13:110424866 [GRCh38]
Chr13:111077213 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.1113A>G (p.Gln371=) single nucleotide variant Porencephaly 2 [RCV001113996] Chr13:110449713 [GRCh38]
Chr13:111102060 [GRCh37]
Chr13:13q34
uncertain significance
Single allele deletion not provided [RCV000845021] Chr13:107452288..115092569 [GRCh37]
Chr13:13q33.3-34
not provided
NM_001846.4(COL4A2):c.3984C>T (p.Ala1328=) single nucleotide variant not provided [RCV000897084] Chr13:110503227 [GRCh38]
Chr13:111155574 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.3126C>T (p.Pro1042=) single nucleotide variant not provided [RCV000918800] Chr13:110485755 [GRCh38]
Chr13:111138102 [GRCh37]
Chr13:13q34
benign
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
NM_001846.4(COL4A2):c.1108G>C (p.Ala370Pro) single nucleotide variant Porencephaly 2 [RCV001113995] Chr13:110449708 [GRCh38]
Chr13:111102055 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3 copy number gain not provided [RCV000848025] Chr13:61775567..115107733 [GRCh37]
Chr13:13q21.2-34
pathogenic
GRCh37/hg19 13q33.3-34(chr13:109203109-115107733)x3 copy number gain not provided [RCV000848672] Chr13:109203109..115107733 [GRCh37]
Chr13:13q33.3-34
uncertain significance
GRCh37/hg19 13q31.3-34(chr13:94849303-115107733)x3 copy number gain not provided [RCV000847710] Chr13:94849303..115107733 [GRCh37]
Chr13:13q31.3-34
uncertain significance
GRCh37/hg19 13q33.3-34(chr13:108139800-111231833)x3 copy number gain not provided [RCV000849367] Chr13:108139800..111231833 [GRCh37]
Chr13:13q33.3-34
uncertain significance
NM_001846.4(COL4A2):c.3569C>T (p.Pro1190Leu) single nucleotide variant not provided [RCV000914726] Chr13:110493217 [GRCh38]
Chr13:111145564 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.4129G>A (p.Gly1377Arg) single nucleotide variant Porencephaly 2 [RCV000850252] Chr13:110503472 [GRCh38]
Chr13:111155819 [GRCh37]
Chr13:13q34
pathogenic
NM_001846.4(COL4A2):c.-87G>A single nucleotide variant Porencephaly 2 [RCV001112555] Chr13:110307486 [GRCh38]
Chr13:110959833 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.257G>A (p.Arg86His) single nucleotide variant Porencephaly 2 [RCV001112558] Chr13:110424810 [GRCh38]
Chr13:111077157 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.1078+12A>G single nucleotide variant Porencephaly 2 [RCV001112640] Chr13:110446876 [GRCh38]
Chr13:111099223 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.3042A>C (p.Pro1014=) single nucleotide variant Porencephaly 2 [RCV001112809] Chr13:110485671 [GRCh38]
Chr13:111138018 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.1557C>T (p.Asp519=) single nucleotide variant not provided [RCV001200396] Chr13:110458895 [GRCh38]
Chr13:111111242 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.1517G>A (p.Gly506Asp) single nucleotide variant Porencephaly 2 [RCV001199355] Chr13:110458855 [GRCh38]
Chr13:111111202 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.1856G>A (p.Gly619Asp) single nucleotide variant Porencephaly 2 [RCV000995721] Chr13:110465484 [GRCh38]
Chr13:111117831 [GRCh37]
Chr13:13q34
likely pathogenic
NM_001846.4(COL4A2):c.4996C>T (p.His1666Tyr) single nucleotide variant not specified [RCV001192865] Chr13:110512048 [GRCh38]
Chr13:111164395 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.1412G>A (p.Arg471His) single nucleotide variant Porencephaly 2 [RCV001197527] Chr13:110457415 [GRCh38]
Chr13:111109762 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.305A>G (p.Lys102Arg) single nucleotide variant Porencephaly 2 [RCV001113898] Chr13:110424858 [GRCh38]
Chr13:111077205 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.2025G>A (p.Glu675=) single nucleotide variant Porencephaly 2 [RCV001114087] Chr13:110466049 [GRCh38]
Chr13:111118396 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.4286-12G>A single nucleotide variant Porencephaly 2 [RCV001114249] Chr13:110504136 [GRCh38]
Chr13:111156483 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.4403-10C>T single nucleotide variant Porencephaly 2 [RCV001114250] Chr13:110506405 [GRCh38]
Chr13:111158752 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.-277A>G single nucleotide variant Porencephaly 2 [RCV001109785] Chr13:110307296 [GRCh38]
Chr13:110959643 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.4623C>G (p.Phe1541Leu) single nucleotide variant Porencephaly 2 [RCV001249841] Chr13:110507963 [GRCh38]
Chr13:111160310 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.1189+212A>T single nucleotide variant not provided [RCV001576158] Chr13:110450001 [GRCh38]
Chr13:111102348 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.2039-201C>T single nucleotide variant not provided [RCV001550048] Chr13:110466839 [GRCh38]
Chr13:111119186 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.3598G>A (p.Gly1200Ser) single nucleotide variant not provided [RCV001544852] Chr13:110493246 [GRCh38]
Chr13:111145593 [GRCh37]
Chr13:13q34
likely pathogenic
NM_001846.4(COL4A2):c.685-160A>T single nucleotide variant not provided [RCV001564476] Chr13:110434241 [GRCh38]
Chr13:111086588 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.-44-140G>C single nucleotide variant not provided [RCV001550533] Chr13:110307720 [GRCh38]
Chr13:110960067 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.2204-224G>A single nucleotide variant not provided [RCV001569462] Chr13:110472705 [GRCh38]
Chr13:111125052 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.912+121G>A single nucleotide variant not provided [RCV001577596] Chr13:110438789 [GRCh38]
Chr13:111091136 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.477+307G>A single nucleotide variant not provided [RCV001547711] Chr13:110428890 [GRCh38]
Chr13:111081237 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.2095+35C>T single nucleotide variant not provided [RCV001570649] Chr13:110467131 [GRCh38]
Chr13:111119478 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.315+5G>A single nucleotide variant not provided [RCV001560013] Chr13:110424873 [GRCh38]
Chr13:111077220 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.1432+213G>A single nucleotide variant not provided [RCV001553419] Chr13:110457648 [GRCh38]
Chr13:111109995 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.2758+45G>A single nucleotide variant not provided [RCV001533815] Chr13:110480435 [GRCh38]
Chr13:111132782 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.3025+113C>T single nucleotide variant not provided [RCV001561315] Chr13:110485140 [GRCh38]
Chr13:111137487 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.1597-284C>A single nucleotide variant not provided [RCV001535038] Chr13:110461830 [GRCh38]
Chr13:111114177 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.913-211del deletion not provided [RCV001556696] Chr13:110439578 [GRCh38]
Chr13:111091925 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.360+1G>A single nucleotide variant not provided [RCV001556753] Chr13:110424998 [GRCh38]
Chr13:111077345 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.549+124C>T single nucleotide variant not provided [RCV001556817] Chr13:110430080 [GRCh38]
Chr13:111082427 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.477+309C>T single nucleotide variant not provided [RCV001556849] Chr13:110428892 [GRCh38]
Chr13:111081239 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.1597-145C>T single nucleotide variant not provided [RCV001556863] Chr13:110461969 [GRCh38]
Chr13:111114316 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.958-174A>T single nucleotide variant not provided [RCV001562047] Chr13:110445655 [GRCh38]
Chr13:111098002 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.3347-39G>A single nucleotide variant not provided [RCV001562134] Chr13:110491194 [GRCh38]
Chr13:111143541 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.1340-62_1340-21dup duplication not provided [RCV001562848] Chr13:110457271..110457272 [GRCh38]
Chr13:111109618..111109619 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.1777-213C>A single nucleotide variant not provided [RCV001563400] Chr13:110465192 [GRCh38]
Chr13:111117539 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.861+200T>G single nucleotide variant not provided [RCV001546826] Chr13:110438237 [GRCh38]
Chr13:111090584 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.1189+79G>A single nucleotide variant not provided [RCV001559837] Chr13:110449868 [GRCh38]
Chr13:111102215 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.4165G>A (p.Gly1389Arg) single nucleotide variant not provided [RCV001532735] Chr13:110503873 [GRCh38]
Chr13:111156220 [GRCh37]
Chr13:13q34
likely pathogenic
NM_001846.4(COL4A2):c.3804= (p.Pro1268=) variation not provided [RCV000953498] Chr13:110501711 [GRCh38]
Chr13:111154058 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.4167G>A (p.Gly1389=) single nucleotide variant Porencephaly 2 [RCV001112890]|not provided [RCV000979206] Chr13:110503875 [GRCh38]
Chr13:111156222 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.4083= (p.Thr1361=) variation not provided [RCV000953531] Chr13:110503426 [GRCh38]
Chr13:111155773 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.4290= (p.Phe1430=) variation not provided [RCV000953532] Chr13:110504152 [GRCh38]
Chr13:111156499 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.4275C>T (p.Pro1425=) single nucleotide variant not provided [RCV000922663] Chr13:110503983 [GRCh38]
Chr13:111156330 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.744G>A (p.Pro248=) single nucleotide variant not provided [RCV000939626] Chr13:110436286 [GRCh38]
Chr13:111088633 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.1532C>T (p.Pro511Leu) single nucleotide variant not provided [RCV000907846] Chr13:110458870 [GRCh38]
Chr13:111111217 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.3871C>T (p.Leu1291=) single nucleotide variant not provided [RCV000888166] Chr13:110501778 [GRCh38]
Chr13:111154125 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.432A>G (p.Ser144=) single nucleotide variant not provided [RCV000909223] Chr13:110428538 [GRCh38]
Chr13:111080885 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.1432+7A>G single nucleotide variant not provided [RCV000897442] Chr13:110457442 [GRCh38]
Chr13:111109789 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.385A>G (p.Arg129Gly) single nucleotide variant not provided [RCV000919551] Chr13:110428491 [GRCh38]
Chr13:111080838 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.5103C>T (p.His1701=) single nucleotide variant not provided [RCV000915345] Chr13:110512155 [GRCh38]
Chr13:111164502 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.2011G>A (p.Gly671Ser) single nucleotide variant Porencephaly 2 [RCV001114086]|not provided [RCV000897372] Chr13:110466035 [GRCh38]
Chr13:111118382 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.4716G>A (p.Pro1572=) single nucleotide variant Porencephaly 2 [RCV001110226]|not provided [RCV000932112] Chr13:110508056 [GRCh38]
Chr13:111160403 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001846.4(COL4A2):c.4969G>A (p.Glu1657Lys) single nucleotide variant Porencephaly 2 [RCV001198882] Chr13:110512021 [GRCh38]
Chr13:111164368 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.3397C>T (p.Pro1133Ser) single nucleotide variant Porencephaly 2 [RCV001199265] Chr13:110491283 [GRCh38]
Chr13:111143630 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.361-11C>G single nucleotide variant Porencephaly 2 [RCV001113899] Chr13:110428456 [GRCh38]
Chr13:111080803 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.49C>T (p.Leu17=) single nucleotide variant Porencephaly 2 [RCV001112557] Chr13:110308073 [GRCh38]
Chr13:110960420 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.1053C>T (p.Tyr351=) single nucleotide variant Porencephaly 2 [RCV001112639] Chr13:110446839 [GRCh38]
Chr13:111099186 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.2902+5G>C single nucleotide variant Porencephaly 2 [RCV001112808] Chr13:110482664 [GRCh38]
Chr13:111135011 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.5076G>A (p.Thr1692=) single nucleotide variant not provided [RCV001200397] Chr13:110512128 [GRCh38]
Chr13:111164475 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.1704C>T (p.Pro568=) single nucleotide variant not provided [RCV000933964] Chr13:110462312 [GRCh38]
Chr13:111114659 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.1911C>T (p.Asp637=) single nucleotide variant not provided [RCV000890278] Chr13:110465539 [GRCh38]
Chr13:111117886 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.1011G>A (p.Lys337=) single nucleotide variant not provided [RCV000957188] Chr13:110445882 [GRCh38]
Chr13:111098229 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.1189+84C>T single nucleotide variant not provided [RCV001556542] Chr13:110449873 [GRCh38]
Chr13:111102220 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.913-103A>G single nucleotide variant not provided [RCV001562439] Chr13:110439686 [GRCh38]
Chr13:111092033 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.1079-217A>G single nucleotide variant not provided [RCV001562669] Chr13:110449462 [GRCh38]
Chr13:111101809 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.2095+305G>A single nucleotide variant not provided [RCV001548274] Chr13:110467401 [GRCh38]
Chr13:111119748 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.862-41G>T single nucleotide variant not provided [RCV001557846] Chr13:110438577 [GRCh38]
Chr13:111090924 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.913-235T>A single nucleotide variant not provided [RCV001558439] Chr13:110439554 [GRCh38]
Chr13:111091901 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.4881+138G>A single nucleotide variant not provided [RCV001558517] Chr13:110508359 [GRCh38]
Chr13:111160706 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.3207+207C>T single nucleotide variant not provided [RCV001558541] Chr13:110486043 [GRCh38]
Chr13:111138390 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.958-130G>A single nucleotide variant not provided [RCV001558791] Chr13:110445699 [GRCh38]
Chr13:111098046 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.3563-102_3563-39del deletion not provided [RCV001552707] Chr13:110493086..110493149 [GRCh38]
Chr13:111145433..111145496 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.4139-165G>A single nucleotide variant not provided [RCV001559034] Chr13:110503682 [GRCh38]
Chr13:111156029 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.3454+46G>A single nucleotide variant not provided [RCV001560093] Chr13:110491386 [GRCh38]
Chr13:111143733 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.4403-157CT[9] microsatellite not provided [RCV001575849] Chr13:110506258..110506261 [GRCh38]
Chr13:111158605..111158608 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.912+141_912+142insA insertion not provided [RCV001555514] Chr13:110438809..110438810 [GRCh38]
Chr13:111091156..111091157 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.957+258T>C single nucleotide variant not provided [RCV001560719] Chr13:110440091 [GRCh38]
Chr13:111092438 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.685-270A>G single nucleotide variant not provided [RCV001569217] Chr13:110434131 [GRCh38]
Chr13:111086478 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.1264G>A (p.Gly422Arg) single nucleotide variant not provided [RCV000995093] Chr13:110450379 [GRCh38]
Chr13:111102726 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.2204-305A>T single nucleotide variant not provided [RCV001572430] Chr13:110472624 [GRCh38]
Chr13:111124971 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.2095+14G>A single nucleotide variant Porencephaly 2 [RCV001110046] Chr13:110467110 [GRCh38]
Chr13:111119457 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.2187G>T (p.Gly729=) single nucleotide variant Porencephaly 2 [RCV001110047] Chr13:110469308 [GRCh38]
Chr13:111121655 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.3179C>T (p.Thr1060Met) single nucleotide variant Porencephaly 2 [RCV001254628] Chr13:110485808 [GRCh38]
Chr13:111138155 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.-77G>A single nucleotide variant Porencephaly 2 [RCV001112556] Chr13:110307496 [GRCh38]
Chr13:110959843 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.1914C>T (p.Ala638=) single nucleotide variant Porencephaly 2 [RCV001112734] Chr13:110465542 [GRCh38]
Chr13:111117889 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.-117C>T single nucleotide variant Porencephaly 2 [RCV001112554] Chr13:110307456 [GRCh38]
Chr13:110959803 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.4915T>C (p.Ser1639Pro) single nucleotide variant Porencephaly 2 [RCV001112974]|not provided [RCV001517293] Chr13:110511967 [GRCh38]
Chr13:111164314 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.450C>T (p.Pro150=) single nucleotide variant Porencephaly 2 [RCV001109874] Chr13:110428556 [GRCh38]
Chr13:111080903 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.2200C>T (p.Pro734Ser) single nucleotide variant Porencephaly 2 [RCV001110048] Chr13:110469321 [GRCh38]
Chr13:111121668 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.3502C>T (p.Arg1168Trp) single nucleotide variant Porencephaly 2 [RCV001110131]|not provided [RCV001247154] Chr13:110492117 [GRCh38]
Chr13:111144464 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.*371A>G single nucleotide variant Porencephaly 2 [RCV001110319] Chr13:110512562 [GRCh38]
Chr13:111164909 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.*390G>A single nucleotide variant Porencephaly 2 [RCV001110320] Chr13:110512581 [GRCh38]
Chr13:111164928 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.-241C>T single nucleotide variant Porencephaly 2 [RCV001110574] Chr13:110307332 [GRCh38]
Chr13:110959679 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.-220C>T single nucleotide variant Porencephaly 2 [RCV001110575] Chr13:110307353 [GRCh38]
Chr13:110959700 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.-215C>A single nucleotide variant Porencephaly 2 [RCV001110576] Chr13:110307358 [GRCh38]
Chr13:110959705 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.708C>T (p.Tyr236=) single nucleotide variant Porencephaly 2 [RCV001110661] Chr13:110434424 [GRCh38]
Chr13:111086771 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.751A>G (p.Asn251Asp) single nucleotide variant Porencephaly 2 [RCV001110662] Chr13:110436293 [GRCh38]
Chr13:111088640 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.827G>A (p.Gly276Asp) single nucleotide variant Porencephaly 2 [RCV001110663] Chr13:110438003 [GRCh38]
Chr13:111090350 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.1570G>A (p.Gly524Ser) single nucleotide variant Porencephaly 2 [RCV001110748] Chr13:110458908 [GRCh38]
Chr13:111111255 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.1596+8G>C single nucleotide variant Porencephaly 2 [RCV001110749] Chr13:110458942 [GRCh38]
Chr13:111111289 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.1776C>T (p.Pro592=) single nucleotide variant Porencephaly 2 [RCV001110751] Chr13:110462384 [GRCh38]
Chr13:111114731 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.2502G>A (p.Leu834=) single nucleotide variant Porencephaly 2 [RCV001110820] Chr13:110478079 [GRCh38]
Chr13:111130426 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.2553G>T (p.Gly851=) single nucleotide variant Porencephaly 2 [RCV001110821] Chr13:110478130 [GRCh38]
Chr13:111130477 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.2758+8T>C single nucleotide variant Porencephaly 2 [RCV001110822] Chr13:110480398 [GRCh38]
Chr13:111132745 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.4881+11T>C single nucleotide variant Porencephaly 2 [RCV001110976] Chr13:110508232 [GRCh38]
Chr13:111160579 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.957+24G>A single nucleotide variant not provided [RCV001574204] Chr13:110439857 [GRCh38]
Chr13:111092204 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.*796T>C single nucleotide variant Porencephaly 2 [RCV001113046] Chr13:110512987 [GRCh38]
Chr13:111165334 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.3026-175G>A single nucleotide variant not provided [RCV001530605] Chr13:110485480 [GRCh38]
Chr13:111137827 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.1287_1339+1dup duplication not provided [RCV001090433] Chr13:110450384..110450385 [GRCh38]
Chr13:111102731..111102732 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q32.1-34(chr13:96895656-115107733)x1 copy number loss not provided [RCV001006591] Chr13:96895656..115107733 [GRCh37]
Chr13:13q32.1-34
pathogenic
NM_001846.4(COL4A2):c.3205C>T (p.Arg1069Trp) single nucleotide variant Porencephaly 2 [RCV001112810] Chr13:110485834 [GRCh38]
Chr13:111138181 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.1199G>C (p.Arg400Thr) single nucleotide variant Porencephaly 2 [RCV001113997] Chr13:110450314 [GRCh38]
Chr13:111102661 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.1263C>T (p.Tyr421=) single nucleotide variant Porencephaly 2 [RCV001113998] Chr13:110450378 [GRCh38]
Chr13:111102725 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.4414C>T (p.Arg1472Cys) single nucleotide variant Porencephaly 2 [RCV001114251] Chr13:110506426 [GRCh38]
Chr13:111158773 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.4452C>T (p.Arg1484=) single nucleotide variant Porencephaly 2 [RCV001114252] Chr13:110506464 [GRCh38]
Chr13:111158811 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.*22C>A single nucleotide variant Porencephaly 2 [RCV001114334] Chr13:110512213 [GRCh38]
Chr13:111164560 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.*254C>T single nucleotide variant Porencephaly 2 [RCV001114335] Chr13:110512445 [GRCh38]
Chr13:111164792 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.*366A>T single nucleotide variant Porencephaly 2 [RCV001114336] Chr13:110512557 [GRCh38]
Chr13:111164904 [GRCh37]
Chr13:13q34
uncertain significance
NC_000013.11:g.(?_110307904)_(110706093_?)dup duplication not provided [RCV001031538] Chr13:110960251..111358440 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.2176G>C (p.Gly726Arg) single nucleotide variant not provided [RCV001235104] Chr13:110469297 [GRCh38]
Chr13:111121644 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.3454+13G>A single nucleotide variant Porencephaly 2 [RCV001114165] Chr13:110491353 [GRCh38]
Chr13:111143700 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.4084G>A (p.Gly1362Arg) single nucleotide variant Porencephaly 2 [RCV001028004] Chr13:110503427 [GRCh38]
Chr13:111155774 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.2995A>G (p.Met999Val) single nucleotide variant Porencephaly 2 [RCV001197216] Chr13:110484997 [GRCh38]
Chr13:111137344 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.4123G>A (p.Asp1375Asn) single nucleotide variant Porencephaly 2 [RCV001112889] Chr13:110503466 [GRCh38]
Chr13:111155813 [GRCh37]
Chr13:13q34
benign
GRCh37/hg19 13q33.3-34(chr13:109752674-112352804)x1 copy number loss not provided [RCV001259171] Chr13:109752674..112352804 [GRCh37]
Chr13:13q33.3-34
uncertain significance
GRCh37/hg19 13q34(chr13:110771847-111020926)x3 copy number gain not provided [RCV001259175] Chr13:110771847..111020926 [GRCh37]
Chr13:13q34
uncertain significance
Single allele deletion not provided [RCV001260932] Chr13:102175801..115169858 [GRCh37]
Chr13:13q33.1-34
pathogenic
NM_001846.4(COL4A2):c.49C>G (p.Leu17Val) single nucleotide variant Porencephaly 2 [RCV001291753] Chr13:110308073 [GRCh38]
Chr13:110960420 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.2132G>A (p.Gly711Glu) single nucleotide variant Porencephaly 2 [RCV001262384] Chr13:110469253 [GRCh38]
Chr13:111121600 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.3877+29G>A single nucleotide variant not provided [RCV001540120] Chr13:110501813 [GRCh38]
Chr13:111154160 [GRCh37]
Chr13:13q34
benign
GRCh37/hg19 13q33.2-34(chr13:106256198-115107733)x1 copy number loss not provided [RCV001259170] Chr13:106256198..115107733 [GRCh37]
Chr13:13q33.2-34
pathogenic
NM_001846.4(COL4A2):c.3563-289G>A single nucleotide variant not provided [RCV001575618] Chr13:110492922 [GRCh38]
Chr13:111145269 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.1596+216G>A single nucleotide variant not provided [RCV001537029] Chr13:110459150 [GRCh38]
Chr13:111111497 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.1395del (p.Gly466fs) deletion Porencephaly 2 [RCV001292640] Chr13:110457396 [GRCh38]
Chr13:111109743 [GRCh37]
Chr13:13q34
pathogenic
NM_001846.4(COL4A2):c.286C>T (p.Pro96Ser) single nucleotide variant Porencephaly 2 [RCV001328885] Chr13:110424839 [GRCh38]
Chr13:111077186 [GRCh37]
Chr13:13q34
uncertain significance
Single allele deletion Anal atresia, hypospadias, and penoscrotal inversion [RCV001391677] Chr13:94679977..111536145 [GRCh37]
Chr13:13q31.3-34
pathogenic
NM_001846.4(COL4A2):c.1432+247C>G single nucleotide variant Porencephaly 2 [RCV001333977] Chr13:110457682 [GRCh38]
Chr13:111110029 [GRCh37]
Chr13:13q34
pathogenic
NM_001846.4(COL4A2):c.3448C>T (p.Gln1150Ter) single nucleotide variant not provided [RCV001345850] Chr13:110491334 [GRCh38]
Chr13:111143681 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.4151_4168del (p.Thr1384_Gly1389del) deletion Intraventricular hemorrhage [RCV001391266]|Porencephaly 2 [RCV001358667] Chr13:110503849..110503866 [GRCh38]
Chr13:111156196..111156213 [GRCh37]
Chr13:13q34
likely pathogenic
NM_001846.4(COL4A2):c.1364C>T (p.Ala455Val) single nucleotide variant not provided [RCV001362230] Chr13:110457367 [GRCh38]
Chr13:111109714 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.2269C>T (p.Pro757Ser) single nucleotide variant Porencephaly 2 [RCV001291813] Chr13:110472994 [GRCh38]
Chr13:111125341 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.3487C>G (p.Gln1163Glu) single nucleotide variant not provided [RCV001372008] Chr13:110492102 [GRCh38]
Chr13:111144449 [GRCh37]
Chr13:13q34
uncertain significance
NC_000013.10:g.(?_111102026)_(111176544_?)dup duplication not provided [RCV001308444] Chr13:111102026..111176544 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.980A>G (p.Tyr327Cys) single nucleotide variant not provided [RCV001358103] Chr13:110445851 [GRCh38]
Chr13:111098198 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.1776+20G>A single nucleotide variant not provided [RCV001511849] Chr13:110462404 [GRCh38]
Chr13:111114751 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.1748A>G (p.Asp583Gly) single nucleotide variant not provided [RCV001466338] Chr13:110462356 [GRCh38]
Chr13:111114703 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.1777-234A>G single nucleotide variant not provided [RCV001539269] Chr13:110465171 [GRCh38]
Chr13:111117518 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.3634+1G>A single nucleotide variant not provided [RCV001387866] Chr13:110493283 [GRCh38]
Chr13:111145630 [GRCh37]
Chr13:13q34
pathogenic
NM_001846.4(COL4A2):c.3094A>G (p.Ile1032Val) single nucleotide variant Porencephaly 2 [RCV001542440] Chr13:110485723 [GRCh38]
Chr13:111138070 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.1596+174T>C single nucleotide variant not provided [RCV001534036] Chr13:110459108 [GRCh38]
Chr13:111111455 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.3562+41C>T single nucleotide variant not provided [RCV001534738] Chr13:110492218 [GRCh38]
Chr13:111144565 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.4208C>A (p.Thr1403Lys) single nucleotide variant not provided [RCV001417933] Chr13:110503916 [GRCh38]
Chr13:111156263 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.3563-173G>A single nucleotide variant not provided [RCV001535181] Chr13:110493038 [GRCh38]
Chr13:111145385 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.3347-13T>C single nucleotide variant not provided [RCV001442968] Chr13:110491220 [GRCh38]
Chr13:111143567 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.958-66C>T single nucleotide variant not provided [RCV001527908] Chr13:110445763 [GRCh38]
Chr13:111098110 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.727-139_727-137del microsatellite not provided [RCV001536456] Chr13:110436126..110436128 [GRCh38]
Chr13:111088473..111088475 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.4040-19C>T single nucleotide variant not provided [RCV001511848] Chr13:110503364 [GRCh38]
Chr13:111155711 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.4290C>T (p.Phe1430=) single nucleotide variant not provided [RCV001512403] Chr13:110504152 [GRCh38]
Chr13:111156499 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.535C>T (p.Arg179Cys) single nucleotide variant not provided [RCV001528535] Chr13:110429942 [GRCh38]
Chr13:111082289 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.608A>T (p.His203Leu) single nucleotide variant not provided [RCV001459974] Chr13:110430567 [GRCh38]
Chr13:111082914 [GRCh37]
Chr13:13q34
likely benign|conflicting interpretations of pathogenicity
NM_001846.4(COL4A2):c.3804T>A (p.Pro1268=) single nucleotide variant not provided [RCV001512400]|not specified [RCV001530005] Chr13:110501711 [GRCh38]
Chr13:111154058 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.3807T>C (p.Gly1269=) single nucleotide variant not provided [RCV001512401]|not specified [RCV001530079] Chr13:110501714 [GRCh38]
Chr13:111154061 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.3272-20G>A single nucleotide variant not provided [RCV001522825] Chr13:110489691 [GRCh38]
Chr13:111142038 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.599G>A (p.Arg200His) single nucleotide variant not provided [RCV001451637] Chr13:110430558 [GRCh38]
Chr13:111082905 [GRCh37]
Chr13:13q34
likely benign
NM_001846.4(COL4A2):c.181-27458T>C single nucleotide variant not provided [RCV001511514] Chr13:110397276 [GRCh38]
Chr13:111049623 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.4400A>C (p.Glu1467Ala) single nucleotide variant not provided [RCV001515747] Chr13:110504262 [GRCh38]
Chr13:111156609 [GRCh37]
Chr13:13q34
benign
NM_001846.4(COL4A2):c.670C>G (p.Pro224Ala) single nucleotide variant Porencephaly 2 [RCV001420535] Chr13:110432346 [GRCh38]
Chr13:111084693 [GRCh37]
Chr13:13q34
uncertain significance
NM_001846.4(COL4A2):c.4083T>C (p.Thr1361=) single nucleotide variant not provided [RCV001512402] Chr13:110503426 [GRCh38]
Chr13:111155773 [GRCh37]
Chr13:13q34
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2203 AgrOrtholog
COSMIC COL4A2 COSMIC
Ensembl Genes ENSG00000134871 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000353654 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000383027 UniProtKB/TrEMBL
  ENSP00000481492 UniProtKB/TrEMBL
  ENSP00000496868 UniProtKB/TrEMBL
  ENSP00000497015 UniProtKB/TrEMBL
  ENSP00000497080 UniProtKB/TrEMBL
  ENSP00000497664 UniProtKB/TrEMBL
  ENSP00000497869 UniProtKB/TrEMBL
  ENSP00000497878 UniProtKB/TrEMBL
Ensembl Transcript ENST00000360467 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000400163 UniProtKB/TrEMBL
  ENST00000480609 UniProtKB/TrEMBL
  ENST00000494852 UniProtKB/TrEMBL
  ENST00000617564 UniProtKB/TrEMBL
  ENST00000619688 UniProtKB/TrEMBL
  ENST00000649101 UniProtKB/TrEMBL
  ENST00000649951 UniProtKB/TrEMBL
  ENST00000650540 UniProtKB/TrEMBL
Gene3D-CATH 2.170.240.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000134871 GTEx
HGNC ID HGNC:2203 ENTREZGENE
Human Proteome Map COL4A2 Human Proteome Map
InterPro Collagen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Collagen_IV_NC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Collagen_IV_NC_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CTDL_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1284 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1284 ENTREZGENE
OMIM 120090 OMIM
  614483 OMIM
  614519 OMIM
Pfam Collagen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF01413 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26718 PharmGKB
PROSITE NC1_IV UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00111 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56436 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024RDW8 ENTREZGENE, UniProtKB/TrEMBL
  A0A087WY39_HUMAN UniProtKB/TrEMBL
  A0A3B3IRV2_HUMAN UniProtKB/TrEMBL
  A0A3B3IS04_HUMAN UniProtKB/TrEMBL
  A0A3B3IS47_HUMAN UniProtKB/TrEMBL
  A0A3B3IT80_HUMAN UniProtKB/TrEMBL
  A0A3B3ITN7_HUMAN UniProtKB/TrEMBL
  A0A3B3ITQ8_HUMAN UniProtKB/TrEMBL
  A2A352_HUMAN UniProtKB/TrEMBL
  CO4A2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q14052 UniProtKB/Swiss-Prot
  Q548C3 UniProtKB/Swiss-Prot
  Q5VZA9 UniProtKB/Swiss-Prot
  Q66K23 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-07-26 COL4A2  collagen type IV alpha 2 chain  COL4A2  collagen type IV alpha 2  Symbol and/or name change 5135510 APPROVED
2016-01-26 COL4A2  collagen type IV alpha 2  COL4A2  collagen, type IV, alpha 2  Symbol and/or name change 5135510 APPROVED