PIK3R2 (phosphoinositide-3-kinase regulatory subunit 2) - Rat Genome Database

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Gene: PIK3R2 (phosphoinositide-3-kinase regulatory subunit 2) Homo sapiens
Analyze
Symbol: PIK3R2
Name: phosphoinositide-3-kinase regulatory subunit 2
RGD ID: 68478
HGNC Page HGNC:8980
Description: Enables phosphotyrosine residue binding activity; protein phosphatase binding activity; and receptor tyrosine kinase binding activity. Involved in negative regulation of MAPK cascade; phosphatidylinositol 3-kinase/protein kinase B signal transduction; and regulation of autophagy. Located in phosphatidylinositol 3-kinase complex, class IA. Implicated in pancreatic ductal adenocarcinoma. Biomarker of colon cancer and prostate cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: MPPH; MPPH1; p85; p85-BETA; P85B; p85beta; phosphatidylinositol 3-kinase 85 kDa regulatory subunit beta; phosphatidylinositol 3-kinase regulatory subunit beta; phosphatidylinositol 3-kinase, regulatory subunit, polypeptide 2; phosphatidylinositol 3-kinase, regulatory subunit, polypeptide 2 (p85 beta); phosphoinositide-3-kinase regulatory subunit beta; phosphoinositide-3-kinase, regulatory subunit 2 (beta); phosphoinositide-3-kinase, regulatory subunit 2 (p85 beta); phosphoinositide-3-kinase, regulatory subunit, polypeptide 2 (p85 beta); PI3-kinase regulatory subunit beta; PI3-kinase subunit p85-beta; PI3K regulatory subunit beta; ptdIns-3-kinase regulatory subunit beta; ptdIns-3-kinase regulatory subunit p85-beta
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
GRCh381918,153,163 - 18,170,532 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1918,153,163 - 18,170,532 (+)EnsemblGRCh38hg38GRCh38
GRCh371918,263,973 - 18,281,342 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361918,125,016 - 18,142,343 (+)NCBINCBI36Build 36hg18NCBI36
Build 341918,125,015 - 18,142,343NCBI
Celera1918,165,735 - 18,183,085 (+)NCBICelera
Cytogenetic Map19p13.11NCBI
HuRef1917,827,466 - 17,844,856 (+)NCBIHuRef
CHM1_11918,263,528 - 18,280,901 (+)NCBICHM1_1
T2T-CHM13v2.01918,287,263 - 18,304,664 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-tribromophenol  (EXP)
2,6-dinitrotoluene  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxynon-2-enal  (EXP)
acrolein  (EXP)
acrylamide  (EXP)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
antimonite  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
C60 fullerene  (ISO)
cadmium dichloride  (EXP,ISO)
cannabidiol  (EXP)
carbamazepine  (EXP)
chloropicrin  (EXP)
cisplatin  (EXP)
clofibrate  (ISO)
cobalt dichloride  (EXP)
cyclosporin A  (EXP)
diarsenic trioxide  (EXP)
diazinon  (EXP)
diclofenac  (EXP)
dicrotophos  (EXP)
dioxygen  (EXP)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP)
diquat  (ISO)
doxorubicin  (EXP)
endosulfan  (EXP,ISO)
ethanol  (ISO)
folic acid  (ISO)
genistein  (EXP)
gentamycin  (ISO)
hydrogen peroxide  (EXP)
ivermectin  (EXP)
N-nitrosodiethylamine  (ISO)
N-Vinyl-2-pyrrolidone  (ISO)
nickel dichloride  (ISO)
Nor-9-carboxy-delta9-THC  (EXP)
oxaliplatin  (EXP)
ozone  (EXP)
paracetamol  (EXP)
pentachlorophenol  (ISO)
phenobarbital  (ISO)
potassium dichromate  (EXP)
resveratrol  (EXP)
sodium arsenite  (EXP)
T-2 toxin  (ISO)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
vincristine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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

References - curated
# Reference Title Reference Citation
1. p85ß phosphoinositide 3-kinase subunit regulates tumor progression. Cortés I, etal., Proc Natl Acad Sci U S A. 2012 Jul 10;109(28):11318-23. doi: 10.1073/pnas.1118138109. Epub 2012 Jun 25.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. The noncoding RNA, miR-126, suppresses the growth of neoplastic cells by targeting phosphatidylinositol 3-kinase signaling and is frequently lost in colon cancers. Guo C, etal., Genes Chromosomes Cancer. 2008 Nov;47(11):939-46. doi: 10.1002/gcc.20596.
4. Phosphoinositide 3-kinases as a common platform for multi-hormone signaling. Hirsch E, etal., J Endocrinol. 2007 Aug;194(2):243-56.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
7. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
11. MicroRNA126 inhibits proliferation and metastasis by targeting pik3r2 in prostate cancer. Song L, etal., Mol Med Rep. 2016 Feb;13(2):1204-10. doi: 10.3892/mmr.2015.4661. Epub 2015 Dec 9.
12. Dominant negative inhibitors of signalling through the phosphoinositol 3-kinase pathway for gene therapy of pancreatic cancer. Stoll V, etal., Gut. 2005 Jan;54(1):109-16. doi: 10.1136/gut.2004.046706.
13. Garlic Oil Suppressed Nitrosodiethylamine-Induced Hepatocarcinoma in Rats by Inhibiting PI3K-AKT-NF-κB Pathway. Zhang CL, etal., Int J Biol Sci. 2015 Apr 25;11(6):643-51. doi: 10.7150/ijbs.10785. eCollection 2015.
Additional References at PubMed
PMID:1314371   PMID:1334406   PMID:2174051   PMID:7479742   PMID:7509360   PMID:7537096   PMID:7541045   PMID:7559478   PMID:7592789   PMID:7629144   PMID:7982920   PMID:8080844  
PMID:8636073   PMID:8662998   PMID:8798481   PMID:9092574   PMID:9113989   PMID:9123823   PMID:9178760   PMID:9178903   PMID:9228082   PMID:9247029   PMID:9341793   PMID:9394803  
PMID:9435577   PMID:9446795   PMID:9564850   PMID:9582025   PMID:9632636   PMID:9651378   PMID:9708406   PMID:9808187   PMID:10022833   PMID:10208934   PMID:10358157   PMID:10422873  
PMID:10459020   PMID:10594015   PMID:10627473   PMID:10949031   PMID:10985305   PMID:11120660   PMID:11133830   PMID:11154208   PMID:11156964   PMID:11160222   PMID:11172806   PMID:11289809  
PMID:11350939   PMID:11353842   PMID:11553620   PMID:11994280   PMID:12029088   PMID:12052866   PMID:12077252   PMID:12167717   PMID:12470648   PMID:12477932   PMID:12526811   PMID:12551992  
PMID:12584329   PMID:12660731   PMID:12730242   PMID:12960231   PMID:14602571   PMID:15020686   PMID:15057824   PMID:15107835   PMID:15117958   PMID:15324660   PMID:15385169   PMID:15489334  
PMID:15536084   PMID:15592455   PMID:15689238   PMID:15826941   PMID:15951569   PMID:16081599   PMID:16273093   PMID:16524887   PMID:16729043   PMID:16963558   PMID:16964398   PMID:17024187  
PMID:17157319   PMID:17371229   PMID:17500595   PMID:17620599   PMID:17632570   PMID:17881440   PMID:18067320   PMID:18420583   PMID:18453587   PMID:18534979   PMID:18660489   PMID:18694566  
PMID:18854243   PMID:19190244   PMID:19286672   PMID:19336760   PMID:19380743   PMID:19531499   PMID:19635806   PMID:19738201   PMID:19747165   PMID:19846673   PMID:19915146   PMID:20019835  
PMID:20200404   PMID:20379207   PMID:20515662   PMID:20598684   PMID:20624904   PMID:20653952   PMID:20702582   PMID:20818790   PMID:20936779   PMID:21139197   PMID:21145461   PMID:21249429  
PMID:21383062   PMID:21516116   PMID:21706016   PMID:21765914   PMID:21832049   PMID:21873635   PMID:21984976   PMID:21988832   PMID:22102226   PMID:22402981   PMID:22623428   PMID:22658674  
PMID:22729224   PMID:22810585   PMID:22867989   PMID:22973453   PMID:23215766   PMID:23221569   PMID:23251686   PMID:23301033   PMID:23383273   PMID:23583404   PMID:23604317   PMID:23853584  
PMID:23956138   PMID:24073214   PMID:24189400   PMID:24229420   PMID:24623722   PMID:24658140   PMID:24728074   PMID:24778252   PMID:24969300   PMID:25036637   PMID:25104021   PMID:25240815  
PMID:25253337   PMID:25402006   PMID:25416956   PMID:25814554   PMID:25921289   PMID:26099693   PMID:26186194   PMID:26384552   PMID:26485645   PMID:26496610   PMID:26517243   PMID:26520804  
PMID:26723864   PMID:26860062   PMID:26972000   PMID:27191494   PMID:27616589   PMID:27684187   PMID:27729613   PMID:27835880   PMID:27854409   PMID:28169297   PMID:28299881   PMID:28319085  
PMID:28514442   PMID:28566443   PMID:29212245   PMID:29568061   PMID:29892012   PMID:29991678   PMID:30240640   PMID:30940648   PMID:31001918   PMID:31515488   PMID:31678930   PMID:31753913  
PMID:31871319   PMID:31932471   PMID:31959764   PMID:31980649   PMID:32203420   PMID:32385243   PMID:32410348   PMID:32423001   PMID:32694731   PMID:32707033   PMID:32814053   PMID:32856318  
PMID:32989298   PMID:33350092   PMID:33567341   PMID:33675995   PMID:33818783   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34144267   PMID:34432599   PMID:34591612   PMID:34591642  
PMID:34709727   PMID:34745083   PMID:34831026   PMID:35044719   PMID:35271311   PMID:35384245   PMID:35395865   PMID:35429500   PMID:35550247   PMID:35637600   PMID:36215168   PMID:36444616  
PMID:36528701   PMID:36736316   PMID:36857183   PMID:37904709  


Genomics

Comparative Map Data
PIK3R2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381918,153,163 - 18,170,532 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1918,153,163 - 18,170,532 (+)EnsemblGRCh38hg38GRCh38
GRCh371918,263,973 - 18,281,342 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361918,125,016 - 18,142,343 (+)NCBINCBI36Build 36hg18NCBI36
Build 341918,125,015 - 18,142,343NCBI
Celera1918,165,735 - 18,183,085 (+)NCBICelera
Cytogenetic Map19p13.11NCBI
HuRef1917,827,466 - 17,844,856 (+)NCBIHuRef
CHM1_11918,263,528 - 18,280,901 (+)NCBICHM1_1
T2T-CHM13v2.01918,287,263 - 18,304,664 (+)NCBIT2T-CHM13v2.0
Pik3r2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39871,220,820 - 71,229,356 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl871,220,820 - 71,229,357 (-)EnsemblGRCm39 Ensembl
GRCm38870,768,176 - 70,776,712 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl870,768,176 - 70,776,713 (-)EnsemblGRCm38mm10GRCm38
MGSCv37873,292,080 - 73,300,611 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36873,697,168 - 73,705,670 (-)NCBIMGSCv36mm8
Celera873,329,482 - 73,338,028 (-)NCBICelera
Cytogenetic Map8B3.3NCBI
cM Map834.15NCBI
Pik3r2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81618,699,389 - 18,708,045 (+)NCBIGRCr8
mRatBN7.21618,665,517 - 18,674,067 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1618,665,457 - 18,674,065 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1618,707,923 - 18,716,460 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01619,840,602 - 19,849,140 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01618,760,867 - 18,769,404 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01620,415,109 - 20,424,982 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1620,416,432 - 20,424,980 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01620,273,500 - 20,282,051 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41619,171,101 - 19,179,650 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11619,171,098 - 19,179,648 (+)NCBI
Celera1618,857,756 - 18,866,282 (+)NCBICelera
Cytogenetic Map16p14NCBI
Pik3r2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555243,234,111 - 3,241,173 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555243,234,111 - 3,241,445 (-)NCBIChiLan1.0ChiLan1.0
PIK3R2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22023,013,784 - 23,031,178 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11922,022,130 - 22,039,523 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01917,632,265 - 17,649,664 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11918,608,470 - 18,624,185 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1918,611,179 - 18,624,177 (+)Ensemblpanpan1.1panPan2
PIK3R2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12044,826,037 - 44,838,449 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2044,826,339 - 44,836,558 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2044,739,520 - 44,751,946 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02045,311,340 - 45,323,770 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2045,311,351 - 45,321,865 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12044,548,506 - 44,560,928 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02044,958,996 - 44,971,420 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02045,234,496 - 45,247,145 (-)NCBIUU_Cfam_GSD_1.0
Pik3r2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118203,461,387 - 203,472,734 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365963,010,488 - 3,021,920 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365963,010,526 - 3,021,848 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PIK3R2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl259,637,371 - 59,652,073 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1259,637,363 - 59,652,075 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2259,195,762 - 59,210,463 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PIK3R2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1616,620,673 - 16,637,511 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl616,621,606 - 16,636,937 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660742,738,902 - 2,757,694 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pik3r2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249081,513,969 - 1,523,295 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249081,513,916 - 1,523,723 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PIK3R2
367 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005027.4(PIK3R2):c.2179G>A (p.Ala727Thr) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV000553971]|not provided [RCV001613359]|not specified [RCV001572760] Chr19:18169286 [GRCh38]
Chr19:18280096 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.937= (p.Ser313=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV000543197] Chr19:18162237 [GRCh38]
Chr19:18273047 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.160G>A (p.Val54Met) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV000551536]|Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes [RCV001725188]|PIK3R2-related condition [RCV003935468]|not provided [RCV001573664]|not specified [RCV001700409] Chr19:18156039 [GRCh38]
Chr19:18266849 [GRCh37]
Chr19:19p13.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) single nucleotide variant Inborn genetic diseases [RCV000190661]|Intellectual disability [RCV001526656]|Megalencephaly-capillary malformation-polymicrogyria syndrome [RCV000416575]|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV000033029]|Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes [RCV001836718]|PIK3R2-related condition [RCV003914893]|Seizure [RCV001849288]|not provided [RCV000366413] Chr19:18162974 [GRCh38]
Chr19:18273784 [GRCh37]
Chr19:19p13.11		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_005027.4(PIK3R2):c.*6G>A single nucleotide variant not provided [RCV001571656]|not specified [RCV001821903] Chr19:18169300 [GRCh38]
Chr19:18280110 [GRCh37]
Chr19:19p13.11		 likely benign
GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3 copy number gain See cases [RCV000050635] Chr19:17176767..34924150 [GRCh38]
Chr19:17287576..35415054 [GRCh37]
Chr19:17148576..40106894 [NCBI36]
Chr19:19p13.11-q13.11		 pathogenic
GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3 copy number gain See cases [RCV000052912] Chr19:13974677..27839676 [GRCh38]
Chr19:14085489..28330584 [GRCh37]
Chr19:13946489..33022424 [NCBI36]
Chr19:19p13.12-q11		 pathogenic
GRCh38/hg38 19p13.11(chr19:17922234-18463153)x1 copy number loss See cases [RCV000053946] Chr19:17922234..18463153 [GRCh38]
Chr19:18033043..18573963 [GRCh37]
Chr19:17894043..18434963 [NCBI36]
Chr19:19p13.11		 pathogenic
NM_015016.1(MAST3):c.3875C>T (p.Ala1292Val) single nucleotide variant Malignant melanoma [RCV000072013] Chr19:18149671 [GRCh38]
Chr19:18260481 [GRCh37]
Chr19:18121481 [NCBI36]
Chr19:19p13.11		 not provided
NM_005027.4(PIK3R2):c.811G>T (p.Asp271Tyr) single nucleotide variant not provided [RCV002292991] Chr19:18161491 [GRCh38]
Chr19:18272301 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1202T>C (p.Leu401Pro) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV000133505] Chr19:18163059 [GRCh38]
Chr19:18273869 [GRCh37]
Chr19:19p13.11		 pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31		 pathogenic
GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3 copy number gain See cases [RCV000136696] Chr19:15133594..24193591 [GRCh38]
Chr19:15244405..24376393 [GRCh37]
Chr19:15105405..24168233 [NCBI36]
Chr19:19p13.12-12		 pathogenic|likely pathogenic
GRCh38/hg38 19p13.11(chr19:18133970-18424117)x1 copy number loss See cases [RCV000142944] Chr19:18133970..18424117 [GRCh38]
Chr19:18244780..18534927 [GRCh37]
Chr19:18105780..18395927 [NCBI36]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.2037C>T (p.Phe679=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV000552917] Chr19:18169144 [GRCh38]
Chr19:18279954 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.700= (p.Ser234=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV000554139] Chr19:18161380 [GRCh38]
Chr19:18272190 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.451C>T (p.Pro151Ser) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV000541823]|not provided [RCV000224840] Chr19:18160954 [GRCh38]
Chr19:18271764 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.1290+4C>T single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001348160]|PIK3R2-related condition [RCV003937872]|not provided [RCV000224969] Chr19:18163151 [GRCh38]
Chr19:18273961 [GRCh37]
Chr19:19p13.11		 likely benign|uncertain significance
NM_005027.4(PIK3R2):c.2093A>C (p.His698Pro) single nucleotide variant Global developmental delay [RCV000584788] Chr19:18169200 [GRCh38]
Chr19:18280010 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1690A>G (p.Lys564Glu) single nucleotide variant not provided [RCV000331753] Chr19:18167260 [GRCh38]
Chr19:18278070 [GRCh37]
Chr19:19p13.11		 pathogenic
NM_005027.4(PIK3R2):c.1126A>G (p.Lys376Glu) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003236667]|Seizure [RCV001849360]|not provided [RCV000394419] Chr19:18162983 [GRCh38]
Chr19:18273793 [GRCh37]
Chr19:19p13.11		 pathogenic
NM_005027.4(PIK3R2):c.55C>A (p.Arg19=) single nucleotide variant not specified [RCV000267621] Chr19:18155934 [GRCh38]
Chr19:18266744 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.2183G>A (p.Arg728His) single nucleotide variant not provided [RCV000585311] Chr19:18169290 [GRCh38]
Chr19:18280100 [GRCh37]
Chr19:19p13.11		 uncertain significance
GRCh37/hg19 19p13.11-11(chr19:16526787-24631604)x3 copy number gain not provided [RCV000752593] Chr19:16526787..24631604 [GRCh37]
Chr19:19p13.11-11		 pathogenic
NM_005027.4(PIK3R2):c.336C>T (p.Pro112=) single nucleotide variant not provided [RCV000732190] Chr19:18160484 [GRCh38]
Chr19:18271294 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1643C>T (p.Ala548Val) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV000527404]|not provided [RCV001644652] Chr19:18167213 [GRCh38]
Chr19:18278023 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.1023C>T (p.Asn341=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002535295]|not provided [RCV003424321]|not specified [RCV000732846] Chr19:18162420 [GRCh38]
Chr19:18273230 [GRCh37]
Chr19:19p13.11		 benign|likely benign
NM_005027.4(PIK3R2):c.817A>T (p.Ser273Cys) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV000952352]|PIK3R2-related condition [RCV003918216]|not provided [RCV001672948]|not specified [RCV000732847] Chr19:18161967 [GRCh38]
Chr19:18272777 [GRCh37]
Chr19:19p13.11		 benign|likely benign
NM_005027.4(PIK3R2):c.772CCG[3] (p.Pro261del) microsatellite Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003653272]|not provided [RCV000722910] Chr19:18161450..18161452 [GRCh38]
Chr19:18272260..18272262 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1681A>G (p.Asn561Asp) single nucleotide variant Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation [RCV000430787]|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002250624] Chr19:18167251 [GRCh38]
Chr19:18278061 [GRCh37]
Chr19:19p13.11		 likely pathogenic
GRCh37/hg19 19p13.11(chr19:18136482-19087534)x3 copy number gain See cases [RCV000449006] Chr19:18136482..19087534 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1669G>C (p.Asp557His) single nucleotide variant not provided [RCV000481944] Chr19:18167239 [GRCh38]
Chr19:18278049 [GRCh37]
Chr19:19p13.11		 pathogenic
NM_005027.4(PIK3R2):c.278C>T (p.Pro93Leu) single nucleotide variant not provided [RCV000486856] Chr19:18156157 [GRCh38]
Chr19:18266967 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1948A>G (p.Ser650Gly) single nucleotide variant not provided [RCV000498169] Chr19:18168865 [GRCh38]
Chr19:18279675 [GRCh37]
Chr19:19p13.11		 likely pathogenic
NM_005027.4(PIK3R2):c.1736+12C>T single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002060202]|not provided [RCV000514230] Chr19:18167318 [GRCh38]
Chr19:18278128 [GRCh37]
Chr19:19p13.11		 benign|likely benign
NM_005027.4(PIK3R2):c.1694C>G (p.Pro565Arg) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002524038]|not provided [RCV000494161] Chr19:18167264 [GRCh38]
Chr19:18278074 [GRCh37]
Chr19:19p13.11		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_005027.4(PIK3R2):c.696G>A (p.Val232=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV000644582]|PIK3R2-related condition [RCV003937944] Chr19:18161376 [GRCh38]
Chr19:18272186 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.903G>A (p.Ala301=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV000530301]|not provided [RCV001692177]|not specified [RCV001700410] Chr19:18162203 [GRCh38]
Chr19:18273013 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.1543G>A (p.Glu515Lys) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV000534369] Chr19:18166286 [GRCh38]
Chr19:18277096 [GRCh37]
Chr19:19p13.11		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_005027.4(PIK3R2):c.1454A>G (p.Asn485Ser) single nucleotide variant not provided [RCV003327994] Chr19:18166197 [GRCh38]
Chr19:18277007 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1911T>C (p.Ser637=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV000614646]|not provided [RCV001613396]|not specified [RCV001701074] Chr19:18168828 [GRCh38]
Chr19:18279638 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.291C>T (p.Pro97=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV000529235]|not provided [RCV001558473] Chr19:18156170 [GRCh38]
Chr19:18266980 [GRCh37]
Chr19:19p13.11		 benign|likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
NM_005027.4(PIK3R2):c.1845G>T (p.Pro615=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV000540005] Chr19:18168762 [GRCh38]
Chr19:18279572 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.2127C>T (p.Thr709=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV000602127]|not provided [RCV001572977]|not specified [RCV001700242] Chr19:18169234 [GRCh38]
Chr19:18280044 [GRCh37]
Chr19:19p13.11		 benign|likely benign
NM_005027.4(PIK3R2):c.2163C>T (p.Pro721=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV000541371]|not provided [RCV001709666] Chr19:18169270 [GRCh38]
Chr19:18280080 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.2080C>T (p.Leu694=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV000529052]|not provided [RCV001692176] Chr19:18169187 [GRCh38]
Chr19:18279997 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.598+1G>A single nucleotide variant not provided [RCV000512859] Chr19:18161186 [GRCh38]
Chr19:18271996 [GRCh37]
Chr19:19p13.11		 pathogenic|uncertain significance
NM_005027.4(PIK3R2):c.700A>C (p.Ser234Arg) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001511467]|not specified [RCV000595352] Chr19:18161380 [GRCh38]
Chr19:18272190 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.194G>A (p.Arg65Gln) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002060176]|not provided [RCV000513596] Chr19:18156073 [GRCh38]
Chr19:18266883 [GRCh37]
Chr19:19p13.11		 likely benign|uncertain significance
NM_005027.4(PIK3R2):c.784_795dup (p.Ser262_Pro265dup) duplication not provided [RCV000722669] Chr19:18161455..18161456 [GRCh38]
Chr19:18272265..18272266 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.780G>A (p.Pro260=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003104186] Chr19:18161460 [GRCh38]
Chr19:18272270 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1980-36C>T single nucleotide variant not provided [RCV001665265] Chr19:18169051 [GRCh38]
Chr19:18279861 [GRCh37]
Chr19:19p13.11		 benign
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_005027.4(PIK3R2):c.320C>T (p.Pro107Leu) single nucleotide variant Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes [RCV001837026] Chr19:18156199 [GRCh38]
Chr19:18267009 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1560-17C>T single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002071919]|not provided [RCV001534239] Chr19:18167113 [GRCh38]
Chr19:18277923 [GRCh37]
Chr19:19p13.11		 benign|likely benign
NM_005027.4(PIK3R2):c.1109+94A>G single nucleotide variant not provided [RCV001691780] Chr19:18162600 [GRCh38]
Chr19:18273410 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.-423-241dup duplication not provided [RCV001611998] Chr19:18155196..18155197 [GRCh38]
Chr19:18266006..18266007 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.2168C>G (p.Pro723Arg) single nucleotide variant not provided [RCV000762264] Chr19:18169275 [GRCh38]
Chr19:18280085 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1359C>A (p.Tyr453Ter) single nucleotide variant not provided [RCV000760781] Chr19:18163331 [GRCh38]
Chr19:18274141 [GRCh37]
Chr19:19p13.11		 likely pathogenic
NM_005027.4(PIK3R2):c.1416+86T>C single nucleotide variant not provided [RCV001551988] Chr19:18163474 [GRCh38]
Chr19:18274284 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.2031C>T (p.Phe677=) single nucleotide variant not provided [RCV000996824] Chr19:18169138 [GRCh38]
Chr19:18279948 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1243G>A (p.Ala415Thr) single nucleotide variant Inborn genetic diseases [RCV002543871]|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002543872]|PIK3R2-related condition [RCV003948693]|not provided [RCV001724574]|not specified [RCV001821965] Chr19:18163100 [GRCh38]
Chr19:18273910 [GRCh37]
Chr19:19p13.11		 benign|likely benign|uncertain significance
NM_005027.4(PIK3R2):c.1938C>T (p.Ile646=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV000878888]|not provided [RCV001535307] Chr19:18168855 [GRCh38]
Chr19:18279665 [GRCh37]
Chr19:19p13.11		 benign|likely benign
NM_005027.4(PIK3R2):c.1808+10C>T single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001416670] Chr19:18168556 [GRCh38]
Chr19:18279366 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.2148G>A (p.Val716=) single nucleotide variant not provided [RCV000945909] Chr19:18169255 [GRCh38]
Chr19:18280065 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.850G>A (p.Val284Met) single nucleotide variant Multiple myeloma [RCV000984112] Chr19:18162000 [GRCh38]
Chr19:18272810 [GRCh37]
Chr19:19p13.11		 likely pathogenic
NM_005027.4(PIK3R2):c.1104C>T (p.Thr368=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002547300] Chr19:18162501 [GRCh38]
Chr19:18273311 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1224G>A (p.Glu408=) single nucleotide variant not provided [RCV000881455] Chr19:18163081 [GRCh38]
Chr19:18273891 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.481G>A (p.Asp161Asn) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001057106] Chr19:18161068 [GRCh38]
Chr19:18271878 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1288C>G (p.Gln430Glu) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV000793308] Chr19:18163145 [GRCh38]
Chr19:18273955 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.2172G>T (p.Pro724=) single nucleotide variant not provided [RCV000898953] Chr19:18169279 [GRCh38]
Chr19:18280089 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1629G>A (p.Glu543=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV000960765]|Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes [RCV001725205] Chr19:18167199 [GRCh38]
Chr19:18278009 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1056C>G (p.Phe352Leu) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV000767347] Chr19:18162453 [GRCh38]
Chr19:18273263 [GRCh37]
Chr19:19p13.11		 likely pathogenic
NM_005027.4(PIK3R2):c.1076G>C (p.Ser359Thr) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV000818685]|not specified [RCV002249529] Chr19:18162473 [GRCh38]
Chr19:18273283 [GRCh37]
Chr19:19p13.11		 benign|uncertain significance
NM_005027.4(PIK3R2):c.379C>T (p.Leu127Phe) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV000845090] Chr19:18160527 [GRCh38]
Chr19:18271337 [GRCh37]
Chr19:19p13.11		 likely benign|not provided
NM_005027.4(PIK3R2):c.1124A>G (p.Asn375Ser) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV000821009] Chr19:18162981 [GRCh38]
Chr19:18273791 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.2134C>T (p.Leu712=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV000936278] Chr19:18169241 [GRCh38]
Chr19:18280051 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.64_88dup (p.Val30fs) duplication Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001196567] Chr19:18155941..18155942 [GRCh38]
Chr19:18266751..18266752 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.11_12del (p.Pro4fs) deletion not provided [RCV003127023] Chr19:18155890..18155891 [GRCh38]
Chr19:18266700..18266701 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1737-146G>C single nucleotide variant not provided [RCV001551333] Chr19:18168329 [GRCh38]
Chr19:18279139 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1737-67G>A single nucleotide variant not provided [RCV001588303] Chr19:18168408 [GRCh38]
Chr19:18279218 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1980-28C>T single nucleotide variant not provided [RCV001545420] Chr19:18169059 [GRCh38]
Chr19:18279869 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.734C>A (p.Ala245Asp) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003538806]|not provided [RCV001551477] Chr19:18161414 [GRCh38]
Chr19:18272224 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.2168C>T (p.Pro723Leu) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002072100]|not provided [RCV001557580] Chr19:18169275 [GRCh38]
Chr19:18280085 [GRCh37]
Chr19:19p13.11		 benign|likely benign
NM_005027.4(PIK3R2):c.-423-242_-423-241dup duplication not provided [RCV001677611] Chr19:18155196..18155197 [GRCh38]
Chr19:18266006..18266007 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.1560-213T>G single nucleotide variant not provided [RCV001549463] Chr19:18166917 [GRCh38]
Chr19:18277727 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1986C>T (p.Asp662=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002538510]|not provided [RCV001609439] Chr19:18169093 [GRCh38]
Chr19:18279903 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.1830C>T (p.Asp610=) single nucleotide variant not provided [RCV000933508] Chr19:18168747 [GRCh38]
Chr19:18279557 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.10C>T (p.Pro4Ser) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV000878428]|not specified [RCV001817052] Chr19:18155889 [GRCh38]
Chr19:18266699 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.1291-10G>A single nucleotide variant not provided [RCV000930563] Chr19:18163253 [GRCh38]
Chr19:18274063 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.572C>A (p.Ser191Ter) single nucleotide variant Multiple myeloma [RCV000984100] Chr19:18161159 [GRCh38]
Chr19:18271969 [GRCh37]
Chr19:19p13.11		 likely pathogenic
NM_005027.4(PIK3R2):c.42G>A (p.Pro14=) single nucleotide variant not provided [RCV000996823] Chr19:18155921 [GRCh38]
Chr19:18266731 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1215C>T (p.Tyr405=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV000941345] Chr19:18163072 [GRCh38]
Chr19:18273882 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.1953G>A (p.Gln651=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV000887530]|PIK3R2-related condition [RCV003940579]|not provided [RCV001536228] Chr19:18168870 [GRCh38]
Chr19:18279680 [GRCh37]
Chr19:19p13.11		 benign|likely benign
NM_005027.4(PIK3R2):c.816-8C>T single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV000908099]|PIK3R2-related condition [RCV003958266] Chr19:18161958 [GRCh38]
Chr19:18272768 [GRCh37]
Chr19:19p13.11		 benign|likely benign
NM_005027.4(PIK3R2):c.322+7A>G single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002548233]|Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes [RCV001836919] Chr19:18156208 [GRCh38]
Chr19:18267018 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1191C>T (p.Ser397=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001412615]|not provided [RCV000904324] Chr19:18163048 [GRCh38]
Chr19:18273858 [GRCh37]
Chr19:19p13.11		 benign|likely benign
NM_005027.4(PIK3R2):c.1314C>T (p.Ser438=) single nucleotide variant not provided [RCV000886403] Chr19:18163286 [GRCh38]
Chr19:18274096 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.500C>G (p.Thr167Arg) single nucleotide variant not provided [RCV000907624] Chr19:18161087 [GRCh38]
Chr19:18271897 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.302G>A (p.Arg101His) single nucleotide variant Inborn genetic diseases [RCV003263891]|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001245370]|not provided [RCV001550003] Chr19:18156181 [GRCh38]
Chr19:18266991 [GRCh37]
Chr19:19p13.11		 benign|likely benign|uncertain significance
NM_005027.4(PIK3R2):c.107C>T (p.Ala36Val) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001065517] Chr19:18155986 [GRCh38]
Chr19:18266796 [GRCh37]
Chr19:19p13.11		 uncertain significance
NC_000019.10:g.(?_18167110)_(18169314_?)dup duplication Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001032013] Chr19:18277920..18280124 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1527C>T (p.Phe509=) single nucleotide variant PIK3R2-related condition [RCV003948406]|not provided [RCV000889228] Chr19:18166270 [GRCh38]
Chr19:18277080 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1809-8C>A single nucleotide variant not provided [RCV000933657] Chr19:18168718 [GRCh38]
Chr19:18279528 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.258C>T (p.Pro86=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001444886] Chr19:18156137 [GRCh38]
Chr19:18266947 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.564C>G (p.Pro188=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001438558]|PIK3R2-related condition [RCV003957942] Chr19:18161151 [GRCh38]
Chr19:18271961 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.872A>G (p.His291Arg) single nucleotide variant Inborn genetic diseases [RCV002539393]|not provided [RCV000891109] Chr19:18162022 [GRCh38]
Chr19:18272832 [GRCh37]
Chr19:19p13.11		 benign|likely benign
NM_005027.4(PIK3R2):c.937T>C (p.Ser313Pro) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV000990187]|not specified [RCV001528446] Chr19:18162237 [GRCh38]
Chr19:18273047 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.598+24G>A single nucleotide variant not provided [RCV001640888] Chr19:18161209 [GRCh38]
Chr19:18272019 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.*126T>A single nucleotide variant not provided [RCV001620144] Chr19:18169420 [GRCh38]
Chr19:18280230 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.415+35G>A single nucleotide variant not provided [RCV001678272] Chr19:18160598 [GRCh38]
Chr19:18271408 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.322+223C>T single nucleotide variant not provided [RCV001561380] Chr19:18156424 [GRCh38]
Chr19:18267234 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1809-7A>C single nucleotide variant not provided [RCV001688431] Chr19:18168719 [GRCh38]
Chr19:18279529 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.1416+11C>T single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002072357]|not provided [RCV001595387] Chr19:18163399 [GRCh38]
Chr19:18274209 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.1417-87C>G single nucleotide variant not provided [RCV001621020] Chr19:18166073 [GRCh38]
Chr19:18276883 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.902-40C>T single nucleotide variant not provided [RCV001661070] Chr19:18162162 [GRCh38]
Chr19:18272972 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.1109+223T>A single nucleotide variant not provided [RCV001654387] Chr19:18162729 [GRCh38]
Chr19:18273539 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.415+18dup duplication Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002073276]|not specified [RCV001699967] Chr19:18160580..18160581 [GRCh38]
Chr19:18271390..18271391 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.380T>C (p.Leu127Pro) single nucleotide variant Inborn genetic diseases [RCV002554621]|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001071232] Chr19:18160528 [GRCh38]
Chr19:18271338 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1559+94G>A single nucleotide variant not provided [RCV001696620] Chr19:18166396 [GRCh38]
Chr19:18277206 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.1416+15G>A single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002072975]|not provided [RCV001645210] Chr19:18163403 [GRCh38]
Chr19:18274213 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.1110-145G>A single nucleotide variant not provided [RCV001666420] Chr19:18162822 [GRCh38]
Chr19:18273632 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.323-205A>C single nucleotide variant not provided [RCV001574551] Chr19:18160266 [GRCh38]
Chr19:18271076 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1809-3_1809-2insCCCCCCG insertion Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001197579] Chr19:18168723..18168724 [GRCh38]
Chr19:18279533..18279534 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.706G>A (p.Ala236Thr) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001061653] Chr19:18161386 [GRCh38]
Chr19:18272196 [GRCh37]
Chr19:19p13.11		 likely benign|uncertain significance
NM_005027.4(PIK3R2):c.1694C>A (p.Pro565Gln) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001195793] Chr19:18167264 [GRCh38]
Chr19:18278074 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.145C>T (p.Arg49Cys) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001055328] Chr19:18156024 [GRCh38]
Chr19:18266834 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.988T>G (p.Trp330Gly) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001254099] Chr19:18162288 [GRCh38]
Chr19:18273098 [GRCh37]
Chr19:19p13.11		 likely pathogenic
NM_005027.4(PIK3R2):c.311C>A (p.Ala104Asp) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002073037]|not provided [RCV001663242] Chr19:18156190 [GRCh38]
Chr19:18267000 [GRCh37]
Chr19:19p13.11		 benign|likely benign
GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3 copy number gain not provided [RCV001259370] Chr19:14286624..20956753 [GRCh37]
Chr19:19p13.12-12		 pathogenic
NM_005027.4(PIK3R2):c.1428G>T (p.Met476Ile) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001324725] Chr19:18166171 [GRCh38]
Chr19:18276981 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.56G>A (p.Arg19Gln) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001340205] Chr19:18155935 [GRCh38]
Chr19:18266745 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.59C>T (p.Pro20Leu) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001313906] Chr19:18155938 [GRCh38]
Chr19:18266748 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1192G>C (p.Val398Leu) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001346889] Chr19:18163049 [GRCh38]
Chr19:18273859 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.29G>A (p.Arg10His) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001335228] Chr19:18155908 [GRCh38]
Chr19:18266718 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.2105T>G (p.Val702Gly) single nucleotide variant not provided [RCV001311504] Chr19:18169212 [GRCh38]
Chr19:18280022 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1153G>A (p.Gly385Arg) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001289463] Chr19:18163010 [GRCh38]
Chr19:18273820 [GRCh37]
Chr19:19p13.11		 pathogenic
NM_005027.4(PIK3R2):c.1968C>T (p.Ala656=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001497109]|PIK3R2-related condition [RCV003980437] Chr19:18168885 [GRCh38]
Chr19:18279695 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.672C>T (p.Phe224=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001439000] Chr19:18161352 [GRCh38]
Chr19:18272162 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1110-4C>T single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001446863] Chr19:18162963 [GRCh38]
Chr19:18273773 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1980-5C>T single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001411299]|PIK3R2-related condition [RCV003908599] Chr19:18169082 [GRCh38]
Chr19:18279892 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.108G>A (p.Ala36=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001436766] Chr19:18155987 [GRCh38]
Chr19:18266797 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.-18C>T single nucleotide variant not provided [RCV001590482] Chr19:18155862 [GRCh38]
Chr19:18266672 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1620G>A (p.Thr540=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001521118]|not provided [RCV003426170] Chr19:18167190 [GRCh38]
Chr19:18278000 [GRCh37]
Chr19:19p13.11		 benign|likely benign
NM_005027.4(PIK3R2):c.1809-17A>G single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002538600]|not provided [RCV001670388] Chr19:18168709 [GRCh38]
Chr19:18279519 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.1417-114T>C single nucleotide variant not provided [RCV001713832] Chr19:18166046 [GRCh38]
Chr19:18276856 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.1980-81A>G single nucleotide variant not provided [RCV001614350] Chr19:18169006 [GRCh38]
Chr19:18279816 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.691C>T (p.Arg231Cys) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001522928]|not provided [RCV001540364] Chr19:18161371 [GRCh38]
Chr19:18272181 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.304G>A (p.Asp102Asn) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001515673] Chr19:18156183 [GRCh38]
Chr19:18266993 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.467-5C>T single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003108893] Chr19:18161049 [GRCh38]
Chr19:18271859 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1669G>A (p.Asp557Asn) single nucleotide variant not provided [RCV001763214] Chr19:18167239 [GRCh38]
Chr19:18278049 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.902-35G>A single nucleotide variant not provided [RCV001776588] Chr19:18162167 [GRCh38]
Chr19:18272977 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.1816G>T (p.Ala606Ser) single nucleotide variant not provided [RCV001758516] Chr19:18168733 [GRCh38]
Chr19:18279543 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.554T>C (p.Leu185Pro) single nucleotide variant not provided [RCV001771551] Chr19:18161141 [GRCh38]
Chr19:18271951 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1042C>A (p.Pro348Thr) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001868427]|not provided [RCV001754713] Chr19:18162439 [GRCh38]
Chr19:18273249 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1291-11C>G single nucleotide variant not provided [RCV001773819] Chr19:18163252 [GRCh38]
Chr19:18274062 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.175G>A (p.Gly59Ser) single nucleotide variant not provided [RCV001773788] Chr19:18156054 [GRCh38]
Chr19:18266864 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.2073G>T (p.Glu691Asp) single nucleotide variant not provided [RCV003238382] Chr19:18169180 [GRCh38]
Chr19:18279990 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1707G>T (p.Gln569His) single nucleotide variant not provided [RCV001764924] Chr19:18167277 [GRCh38]
Chr19:18278087 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.313C>T (p.Pro105Ser) single nucleotide variant not provided [RCV001765175] Chr19:18156192 [GRCh38]
Chr19:18267002 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.458C>G (p.Pro153Arg) single nucleotide variant not provided [RCV003238381] Chr19:18160961 [GRCh38]
Chr19:18271771 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1217G>A (p.Arg406His) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001768436]|not provided [RCV003238383] Chr19:18163074 [GRCh38]
Chr19:18273884 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1802C>A (p.Thr601Asn) single nucleotide variant not provided [RCV001758696] Chr19:18168540 [GRCh38]
Chr19:18279350 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1458G>C (p.Glu486Asp) single nucleotide variant not provided [RCV001758096] Chr19:18166201 [GRCh38]
Chr19:18277011 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.975G>A (p.Leu325=) single nucleotide variant not specified [RCV001820576] Chr19:18162275 [GRCh38]
Chr19:18273085 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.151C>G (p.Pro51Ala) single nucleotide variant not provided [RCV001814818] Chr19:18156030 [GRCh38]
Chr19:18266840 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1669G>T (p.Asp557Tyr) single nucleotide variant PIK3R2-related condition [RCV003407833]|Seizure [RCV001849843]|not provided [RCV003228005] Chr19:18167239 [GRCh38]
Chr19:18278049 [GRCh37]
Chr19:19p13.11		 pathogenic|likely pathogenic
NM_005027.4(PIK3R2):c.271C>T (p.Arg91Trp) single nucleotide variant Inborn genetic diseases [RCV003166988]|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001896399] Chr19:18156150 [GRCh38]
Chr19:18266960 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1513T>C (p.Tyr505His) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001915387] Chr19:18166256 [GRCh38]
Chr19:18277066 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.553C>G (p.Leu185Val) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001927954] Chr19:18161140 [GRCh38]
Chr19:18271950 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1532G>A (p.Arg511His) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001983937] Chr19:18166275 [GRCh38]
Chr19:18277085 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1099C>G (p.Leu367Val) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001891018] Chr19:18162496 [GRCh38]
Chr19:18273306 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.104G>A (p.Arg35Gln) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002022734] Chr19:18155983 [GRCh38]
Chr19:18266793 [GRCh37]
Chr19:19p13.11		 benign|uncertain significance
NM_005027.4(PIK3R2):c.571_572inv (p.Ser191Glu) inversion Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001928733] Chr19:18161158..18161159 [GRCh38]
Chr19:18271968..18271969 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.2120C>T (p.Ala707Val) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002003586] Chr19:18169227 [GRCh38]
Chr19:18280037 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.695T>G (p.Val232Gly) single nucleotide variant Inborn genetic diseases [RCV002545328]|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002050606] Chr19:18161375 [GRCh38]
Chr19:18272185 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1066G>A (p.Asp356Asn) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002000743] Chr19:18162463 [GRCh38]
Chr19:18273273 [GRCh37]
Chr19:19p13.11		 likely benign|uncertain significance
NM_005027.4(PIK3R2):c.126C>T (p.Gly42=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001903423] Chr19:18156005 [GRCh38]
Chr19:18266815 [GRCh37]
Chr19:19p13.11		 likely benign|uncertain significance
NM_005027.4(PIK3R2):c.586C>T (p.Arg196Trp) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001918662] Chr19:18161173 [GRCh38]
Chr19:18271983 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1157A>G (p.His386Arg) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001962775] Chr19:18163014 [GRCh38]
Chr19:18273824 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.199C>T (p.Arg67Ter) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001870568] Chr19:18156078 [GRCh38]
Chr19:18266888 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.700_701inv (p.Ser234Leu) inversion Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002034456] Chr19:18161380..18161381 [GRCh38]
Chr19:18272190..18272191 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.82G>A (p.Gly28Ser) single nucleotide variant Inborn genetic diseases [RCV002560391]|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001951914] Chr19:18155961 [GRCh38]
Chr19:18266771 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.527G>A (p.Ser176Asn) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001897208] Chr19:18161114 [GRCh38]
Chr19:18271924 [GRCh37]
Chr19:19p13.11		 likely benign|uncertain significance
NM_005027.4(PIK3R2):c.1110-10C>A single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002046206] Chr19:18162957 [GRCh38]
Chr19:18273767 [GRCh37]
Chr19:19p13.11		 likely benign|uncertain significance
NM_005027.4(PIK3R2):c.1640G>A (p.Arg547Gln) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001991371] Chr19:18167210 [GRCh38]
Chr19:18278020 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.323-15del deletion Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002208658] Chr19:18160456 [GRCh38]
Chr19:18271266 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.1401C>T (p.Tyr467=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002105319] Chr19:18163373 [GRCh38]
Chr19:18274183 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.902-17G>A single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002187017] Chr19:18162185 [GRCh38]
Chr19:18272995 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.177C>T (p.Gly59=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002108036] Chr19:18156056 [GRCh38]
Chr19:18266866 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1815C>T (p.Tyr605=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002191750] Chr19:18168732 [GRCh38]
Chr19:18279542 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1559+12G>A single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002106009] Chr19:18166314 [GRCh38]
Chr19:18277124 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.815+5GGGGC[3] microsatellite Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002134926] Chr19:18161499..18161500 [GRCh38]
Chr19:18272309..18272310 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1875C>T (p.Gly625=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002115956] Chr19:18168792 [GRCh38]
Chr19:18279602 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.1011-19A>G single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002072604] Chr19:18162389 [GRCh38]
Chr19:18273199 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.1809-8dup duplication Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002125082] Chr19:18168712..18168713 [GRCh38]
Chr19:18279522..18279523 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.301C>T (p.Arg101Cys) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002076915] Chr19:18156180 [GRCh38]
Chr19:18266990 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.815+7G>A single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002075081] Chr19:18161502 [GRCh38]
Chr19:18272312 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1329C>A (p.Gly443=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002115310] Chr19:18163301 [GRCh38]
Chr19:18274111 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.1291-15G>A single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002113911] Chr19:18163248 [GRCh38]
Chr19:18274058 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1974C>T (p.Ser658=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002146880] Chr19:18168891 [GRCh38]
Chr19:18279701 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.884A>G (p.Gln295Arg) single nucleotide variant not provided [RCV002214105] Chr19:18162034 [GRCh38]
Chr19:18272844 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.598+20C>T single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002127200] Chr19:18161205 [GRCh38]
Chr19:18272015 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.453C>T (p.Pro151=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002092818] Chr19:18160956 [GRCh38]
Chr19:18271766 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1682A>G (p.Asn561Ser) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002144942] Chr19:18167252 [GRCh38]
Chr19:18278062 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.1559+10G>A single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002093597] Chr19:18166312 [GRCh38]
Chr19:18277122 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.786C>T (p.Ser262=) single nucleotide variant not provided [RCV002214104] Chr19:18161466 [GRCh38]
Chr19:18272276 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.2004C>G (p.Cys668Trp) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002152423] Chr19:18169111 [GRCh38]
Chr19:18279921 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.720T>C (p.Gly240=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002192379]|PIK3R2-related condition [RCV003893148] Chr19:18161400 [GRCh38]
Chr19:18272210 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.265C>T (p.Arg89Cys) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002076778] Chr19:18156144 [GRCh38]
Chr19:18266954 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.467-11T>C single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002116727] Chr19:18161043 [GRCh38]
Chr19:18271853 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.466+11G>T single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002165396] Chr19:18160980 [GRCh38]
Chr19:18271790 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.42G>C (p.Pro14=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002103678]|not provided [RCV003426321] Chr19:18155921 [GRCh38]
Chr19:18266731 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1809-7A>T single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002180885] Chr19:18168719 [GRCh38]
Chr19:18279529 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.46C>T (p.Arg16Cys) single nucleotide variant Inborn genetic diseases [RCV002562292]|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002218261] Chr19:18155925 [GRCh38]
Chr19:18266735 [GRCh37]
Chr19:19p13.11		 benign|uncertain significance
NM_005027.4(PIK3R2):c.1440A>C (p.Ala480=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002220579] Chr19:18166183 [GRCh38]
Chr19:18276993 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.323-16_323-15del deletion Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002118498] Chr19:18160455..18160456 [GRCh38]
Chr19:18271265..18271266 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.322+18G>T single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002155488] Chr19:18156219 [GRCh38]
Chr19:18267029 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1380T>C (p.Tyr460=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002140525] Chr19:18163352 [GRCh38]
Chr19:18274162 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.2171C>T (p.Pro724Leu) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002117920] Chr19:18169278 [GRCh38]
Chr19:18280088 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.657G>A (p.Ala219=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002154646]|not provided [RCV003426297] Chr19:18161337 [GRCh38]
Chr19:18272147 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.467-17C>T single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002202416] Chr19:18161037 [GRCh38]
Chr19:18271847 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.36G>A (p.Leu12=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002202552] Chr19:18155915 [GRCh38]
Chr19:18266725 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.2074C>T (p.Leu692=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002183125] Chr19:18169181 [GRCh38]
Chr19:18279991 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.240C>T (p.Pro80=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002204277]|not provided [RCV003408167] Chr19:18156119 [GRCh38]
Chr19:18266929 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.138T>G (p.Gly46=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003118073] Chr19:18156017 [GRCh38]
Chr19:18266827 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.216C>T (p.Gly72=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003112871] Chr19:18156095 [GRCh38]
Chr19:18266905 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.415+17C>T single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003116276] Chr19:18160580 [GRCh38]
Chr19:18271390 [GRCh37]
Chr19:19p13.11		 likely benign
NC_000019.9:g.(?_17927663)_(19312528_?)dup duplication Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003116292] Chr19:17927663..19312528 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.34C>G (p.Leu12Val) single nucleotide variant Inborn genetic diseases [RCV003277211] Chr19:18155913 [GRCh38]
Chr19:18266723 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.627G>A (p.Leu209=) single nucleotide variant not provided [RCV002286173] Chr19:18161307 [GRCh38]
Chr19:18272117 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.2063C>T (p.Ser688Leu) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002283603] Chr19:18169170 [GRCh38]
Chr19:18279980 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.2183G>T (p.Arg728Leu) single nucleotide variant not provided [RCV002287133] Chr19:18169290 [GRCh38]
Chr19:18280100 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.550C>T (p.Pro184Ser) single nucleotide variant not provided [RCV003237086] Chr19:18161137 [GRCh38]
Chr19:18271947 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1694C>T (p.Pro565Leu) single nucleotide variant not provided [RCV003156511] Chr19:18167264 [GRCh38]
Chr19:18278074 [GRCh37]
Chr19:19p13.11		 likely pathogenic
NM_005027.4(PIK3R2):c.328A>G (p.Thr110Ala) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002304659] Chr19:18160476 [GRCh38]
Chr19:18271286 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.267C>T (p.Arg89=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002862226] Chr19:18156146 [GRCh38]
Chr19:18266956 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.877G>A (p.Glu293Lys) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003074564] Chr19:18162027 [GRCh38]
Chr19:18272837 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1827G>A (p.Glu609=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003073668] Chr19:18168744 [GRCh38]
Chr19:18279554 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1957G>A (p.Gly653Ser) single nucleotide variant Inborn genetic diseases [RCV002752722] Chr19:18168874 [GRCh38]
Chr19:18279684 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1516C>T (p.Leu506=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003075762] Chr19:18166259 [GRCh38]
Chr19:18277069 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1736+6T>G single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002880264] Chr19:18167312 [GRCh38]
Chr19:18278122 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.598+12G>A single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003032469] Chr19:18161197 [GRCh38]
Chr19:18272007 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.618G>A (p.Gly206=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002972313] Chr19:18161298 [GRCh38]
Chr19:18272108 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1049G>T (p.Gly350Val) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002880677] Chr19:18162446 [GRCh38]
Chr19:18273256 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.259G>A (p.Gly87Ser) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002967431] Chr19:18156138 [GRCh38]
Chr19:18266948 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1987G>C (p.Gly663Arg) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002993526]|not provided [RCV003427540] Chr19:18169094 [GRCh38]
Chr19:18279904 [GRCh37]
Chr19:19p13.11		 likely benign|uncertain significance
NM_005027.4(PIK3R2):c.372T>C (p.Ala124=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002686395] Chr19:18160520 [GRCh38]
Chr19:18271330 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.766_783dup (p.Pro261_Ser262insArgAlaProProProPro) duplication Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002618401] Chr19:18161444..18161445 [GRCh38]
Chr19:18272254..18272255 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.305A>C (p.Asp102Ala) single nucleotide variant Inborn genetic diseases [RCV002778458] Chr19:18156184 [GRCh38]
Chr19:18266994 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1044C>T (p.Pro348=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002970879]|PIK3R2-related condition [RCV003898640] Chr19:18162441 [GRCh38]
Chr19:18273251 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1979+12G>A single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002730476] Chr19:18168908 [GRCh38]
Chr19:18279718 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.459_460delinsAG (p.Arg154Gly) indel Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002819624] Chr19:18160962..18160963 [GRCh38]
Chr19:18271772..18271773 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1290+19G>A single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003076136] Chr19:18163166 [GRCh38]
Chr19:18273976 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.404T>C (p.Ile135Thr) single nucleotide variant Inborn genetic diseases [RCV002977619] Chr19:18160552 [GRCh38]
Chr19:18271362 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.292G>A (p.Ala98Thr) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002952567] Chr19:18156171 [GRCh38]
Chr19:18266981 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.855G>A (p.Glu285=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002695155] Chr19:18162005 [GRCh38]
Chr19:18272815 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.60G>A (p.Pro20=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002927000]|PIK3R2-related condition [RCV003898588] Chr19:18155939 [GRCh38]
Chr19:18266749 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1775A>G (p.Asn592Ser) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002800363] Chr19:18168513 [GRCh38]
Chr19:18279323 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1034G>A (p.Arg345Gln) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002923425] Chr19:18162431 [GRCh38]
Chr19:18273241 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.254G>A (p.Arg85Gln) single nucleotide variant Inborn genetic diseases [RCV002884499] Chr19:18156133 [GRCh38]
Chr19:18266943 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.466+20G>C single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003053800] Chr19:18160989 [GRCh38]
Chr19:18271799 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.517G>A (p.Gly173Ser) single nucleotide variant Inborn genetic diseases [RCV002660479] Chr19:18161104 [GRCh38]
Chr19:18271914 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.120G>A (p.Ala40=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002795281] Chr19:18155999 [GRCh38]
Chr19:18266809 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.389A>C (p.Lys130Thr) single nucleotide variant not provided [RCV003036972] Chr19:18160537 [GRCh38]
Chr19:18271347 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.466+17A>G single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002867443] Chr19:18160986 [GRCh38]
Chr19:18271796 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.346G>A (p.Glu116Lys) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002913663] Chr19:18160494 [GRCh38]
Chr19:18271304 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1109+14C>T single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003077344] Chr19:18162520 [GRCh38]
Chr19:18273330 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1113A>G (p.Lys371=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002824302] Chr19:18162970 [GRCh38]
Chr19:18273780 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.595C>T (p.Arg199Trp) single nucleotide variant Inborn genetic diseases [RCV003167634]|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002705370] Chr19:18161182 [GRCh38]
Chr19:18271992 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1216C>T (p.Arg406Cys) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002886332] Chr19:18163073 [GRCh38]
Chr19:18273883 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.322+18G>C single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002895085] Chr19:18156219 [GRCh38]
Chr19:18267029 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.55C>T (p.Arg19Trp) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002895108] Chr19:18155934 [GRCh38]
Chr19:18266744 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.186G>A (p.Glu62=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002958058] Chr19:18156065 [GRCh38]
Chr19:18266875 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1736+5G>C single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002626872] Chr19:18167311 [GRCh38]
Chr19:18278121 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.2152G>T (p.Ala718Ser) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003084259] Chr19:18169259 [GRCh38]
Chr19:18280069 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.827G>A (p.Ser276Asn) single nucleotide variant Inborn genetic diseases [RCV003170847]|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003007337] Chr19:18161977 [GRCh38]
Chr19:18272787 [GRCh37]
Chr19:19p13.11		 likely benign|uncertain significance
NM_005027.4(PIK3R2):c.816-9C>T single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003026031] Chr19:18161957 [GRCh38]
Chr19:18272767 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1676G>A (p.Arg559His) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003082728] Chr19:18167246 [GRCh38]
Chr19:18278056 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.2146G>C (p.Val716Leu) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002982794] Chr19:18169253 [GRCh38]
Chr19:18280063 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.780_797dup (p.Pro266_Gly267insProSerSerProProPro) duplication Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002914713]|PIK3R2-related condition [RCV003409968] Chr19:18161449..18161450 [GRCh38]
Chr19:18272259..18272260 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1600G>C (p.Glu534Gln) single nucleotide variant Inborn genetic diseases [RCV002930836] Chr19:18167170 [GRCh38]
Chr19:18277980 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.546C>G (p.Pro182=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003006139] Chr19:18161133 [GRCh38]
Chr19:18271943 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.874T>C (p.Leu292=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002626236] Chr19:18162024 [GRCh38]
Chr19:18272834 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.2099del (p.Ser700fs) deletion Inborn genetic diseases [RCV002699661] Chr19:18169206 [GRCh38]
Chr19:18280016 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.119C>T (p.Ala40Val) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003041203] Chr19:18155998 [GRCh38]
Chr19:18266808 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.149G>A (p.Cys50Tyr) single nucleotide variant Inborn genetic diseases [RCV002712201] Chr19:18156028 [GRCh38]
Chr19:18266838 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1735G>A (p.Val579Met) single nucleotide variant Inborn genetic diseases [RCV002744861] Chr19:18167305 [GRCh38]
Chr19:18278115 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.694G>A (p.Val232Met) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003064829] Chr19:18161374 [GRCh38]
Chr19:18272184 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.1766A>G (p.Lys589Arg) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003031933] Chr19:18168504 [GRCh38]
Chr19:18279314 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.866A>G (p.Gln289Arg) single nucleotide variant Inborn genetic diseases [RCV002940939] Chr19:18162016 [GRCh38]
Chr19:18272826 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1003A>G (p.Ile335Val) single nucleotide variant Inborn genetic diseases [RCV003170738]|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002966896] Chr19:18162303 [GRCh38]
Chr19:18273113 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.274G>T (p.Gly92Cys) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003029730] Chr19:18156153 [GRCh38]
Chr19:18266963 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.965C>T (p.Pro322Leu) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002899673]|not provided [RCV003409953] Chr19:18162265 [GRCh38]
Chr19:18273075 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1980-4A>C single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002579799] Chr19:18169083 [GRCh38]
Chr19:18279893 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1652C>T (p.Ser551Leu) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002599871] Chr19:18167222 [GRCh38]
Chr19:18278032 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1842C>T (p.Leu614=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003060891]|PIK3R2-related condition [RCV003926669]|not provided [RCV003456544] Chr19:18168759 [GRCh38]
Chr19:18279569 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1665G>A (p.Glu555=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002834858] Chr19:18167235 [GRCh38]
Chr19:18278045 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.323-8C>T single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002576680] Chr19:18160463 [GRCh38]
Chr19:18271273 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1964A>G (p.Tyr655Cys) single nucleotide variant Inborn genetic diseases [RCV002988341] Chr19:18168881 [GRCh38]
Chr19:18279691 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1615C>T (p.Arg539Cys) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003009050] Chr19:18167185 [GRCh38]
Chr19:18277995 [GRCh37]
Chr19:19p13.11		 benign|uncertain significance
NM_005027.4(PIK3R2):c.1576G>A (p.Glu526Lys) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002581112] Chr19:18167146 [GRCh38]
Chr19:18277956 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1110-16C>T single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003086128] Chr19:18162951 [GRCh38]
Chr19:18273761 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.949G>A (p.Ala317Thr) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002877235] Chr19:18162249 [GRCh38]
Chr19:18273059 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.780GCCGTCCTCGCCGCCGCC[6] (p.Pro266_Gly267insProSerSerProProProProSerSerProProProProSerSerProProProProSerSerProProProProSerSerProProPro) microsatellite Inborn genetic diseases [RCV002877985] Chr19:18161449..18161450 [GRCh38]
Chr19:18272259..18272260 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.340T>C (p.Leu114=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003044435] Chr19:18160488 [GRCh38]
Chr19:18271298 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1831G>A (p.Glu611Lys) single nucleotide variant Inborn genetic diseases [RCV002717739] Chr19:18168748 [GRCh38]
Chr19:18279558 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.154C>A (p.Gln52Lys) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002810676] Chr19:18156033 [GRCh38]
Chr19:18266843 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.416-5C>G single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002899097] Chr19:18160914 [GRCh38]
Chr19:18271724 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.159C>T (p.Ser53=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002601500] Chr19:18156038 [GRCh38]
Chr19:18266848 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.2153C>T (p.Ala718Val) single nucleotide variant Inborn genetic diseases [RCV002580388]|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002580387] Chr19:18169260 [GRCh38]
Chr19:18280070 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1317G>A (p.Val439=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002584683] Chr19:18163289 [GRCh38]
Chr19:18274099 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.132C>T (p.Ala44=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003069310] Chr19:18156011 [GRCh38]
Chr19:18266821 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1291-11C>T single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003071996] Chr19:18163252 [GRCh38]
Chr19:18274062 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1890G>A (p.Thr630=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003050537] Chr19:18168807 [GRCh38]
Chr19:18279617 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1161T>C (p.Tyr387=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003050725] Chr19:18163018 [GRCh38]
Chr19:18273828 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1290+12C>T single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003069067] Chr19:18163159 [GRCh38]
Chr19:18273969 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.2111A>G (p.His704Arg) single nucleotide variant not provided [RCV003154564] Chr19:18169218 [GRCh38]
Chr19:18280028 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.284C>T (p.Pro95Leu) single nucleotide variant Inborn genetic diseases [RCV003192310] Chr19:18156163 [GRCh38]
Chr19:18266973 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.241G>A (p.Val81Met) single nucleotide variant not provided [RCV003222976] Chr19:18156120 [GRCh38]
Chr19:18266930 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1846C>T (p.His616Tyr) single nucleotide variant Inborn genetic diseases [RCV003206765] Chr19:18168763 [GRCh38]
Chr19:18279573 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1180A>G (p.Thr394Ala) single nucleotide variant Inborn genetic diseases [RCV003204514] Chr19:18163037 [GRCh38]
Chr19:18273847 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1883A>G (p.Asn628Ser) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003134920] Chr19:18168800 [GRCh38]
Chr19:18279610 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.867G>A (p.Gln289=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003134921] Chr19:18162017 [GRCh38]
Chr19:18272827 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.280C>T (p.Arg94Cys) single nucleotide variant Inborn genetic diseases [RCV003300855]|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003649443]|not provided [RCV003457212] Chr19:18156159 [GRCh38]
Chr19:18266969 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.329C>T (p.Thr110Ile) single nucleotide variant Inborn genetic diseases [RCV003186175] Chr19:18160477 [GRCh38]
Chr19:18271287 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.46C>G (p.Arg16Gly) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003875716] Chr19:18155925 [GRCh38]
Chr19:18266735 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.325C>T (p.Leu109Phe) single nucleotide variant Inborn genetic diseases [RCV003378774] Chr19:18160473 [GRCh38]
Chr19:18271283 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1211A>C (p.His404Pro) single nucleotide variant Inborn genetic diseases [RCV003350580] Chr19:18163068 [GRCh38]
Chr19:18273878 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1337T>C (p.Leu446Pro) single nucleotide variant Inborn genetic diseases [RCV003376354] Chr19:18163309 [GRCh38]
Chr19:18274119 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.731G>T (p.Arg244Leu) single nucleotide variant Inborn genetic diseases [RCV003381834] Chr19:18161411 [GRCh38]
Chr19:18272221 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1675C>T (p.Arg559Cys) single nucleotide variant Overgrowth syndrome [RCV003458279] Chr19:18167245 [GRCh38]
Chr19:18278055 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_006332.5(IFI30):c.179C>T (p.Pro60Leu) single nucleotide variant not provided [RCV003423453] Chr19:18175086 [GRCh38]
Chr19:18285896 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.1216C>G (p.Arg406Gly) single nucleotide variant not specified [RCV003479826] Chr19:18163073 [GRCh38]
Chr19:18273883 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.891T>C (p.Val297=) single nucleotide variant not provided [RCV003423452] Chr19:18162041 [GRCh38]
Chr19:18272851 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.394G>A (p.Val132Met) single nucleotide variant not provided [RCV003423451] Chr19:18160542 [GRCh38]
Chr19:18271352 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1955G>A (p.Arg652Gln) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003649455]|PIK3R2-related condition [RCV003408794] Chr19:18168872 [GRCh38]
Chr19:18279682 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.468C>T (p.Asp156=) single nucleotide variant not provided [RCV003406900] Chr19:18161055 [GRCh38]
Chr19:18271865 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1894G>A (p.Ala632Thr) single nucleotide variant not provided [RCV003406901] Chr19:18168811 [GRCh38]
Chr19:18279621 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.476T>C (p.Leu159Pro) single nucleotide variant not provided [RCV003441423] Chr19:18161063 [GRCh38]
Chr19:18271873 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1259G>A (p.Arg420Gln) single nucleotide variant PIK3R2-related condition [RCV003427908] Chr19:18163116 [GRCh38]
Chr19:18273926 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.184G>A (p.Glu62Lys) single nucleotide variant not provided [RCV003423450] Chr19:18156063 [GRCh38]
Chr19:18266873 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.292G>T (p.Ala98Ser) single nucleotide variant PIK3R2-related condition [RCV003416697] Chr19:18156171 [GRCh38]
Chr19:18266981 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.2172G>A (p.Pro724=) single nucleotide variant not provided [RCV003415150] Chr19:18169279 [GRCh38]
Chr19:18280089 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.903G>C (p.Ala301=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003649642] Chr19:18162203 [GRCh38]
Chr19:18273013 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1410C>T (p.Thr470=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003651575] Chr19:18163382 [GRCh38]
Chr19:18274192 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.937T>G (p.Ser313Ala) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003653821] Chr19:18162237 [GRCh38]
Chr19:18273047 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.2085C>T (p.His695=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003649466] Chr19:18169192 [GRCh38]
Chr19:18280002 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1559+11C>T single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003653863] Chr19:18166313 [GRCh38]
Chr19:18277123 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1416+14C>T single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003654002] Chr19:18163402 [GRCh38]
Chr19:18274212 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.1035G>C (p.Arg345=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003650231] Chr19:18162432 [GRCh38]
Chr19:18273242 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1529G>A (p.Arg510Gln) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003653828] Chr19:18166272 [GRCh38]
Chr19:18277082 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1110-3C>A single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003649609] Chr19:18162964 [GRCh38]
Chr19:18273774 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.31G>T (p.Ala11Ser) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003649619] Chr19:18155910 [GRCh38]
Chr19:18266720 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1109+7G>T single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003649668] Chr19:18162513 [GRCh38]
Chr19:18273323 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.399G>A (p.Glu133=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003651695] Chr19:18160547 [GRCh38]
Chr19:18271357 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.783_797dup (p.Pro266_Gly267insSerSerProProPro) duplication Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003649798] Chr19:18161452..18161453 [GRCh38]
Chr19:18272262..18272263 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.2094C>T (p.His698=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003651759] Chr19:18169201 [GRCh38]
Chr19:18280011 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.498C>T (p.Asp166=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003650047] Chr19:18161085 [GRCh38]
Chr19:18271895 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1575C>G (p.Ser525=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003650110] Chr19:18167145 [GRCh38]
Chr19:18277955 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.598+11C>T single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003651160] Chr19:18161196 [GRCh38]
Chr19:18272006 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.1980-16_1980-3del deletion Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003651308] Chr19:18169070..18169083 [GRCh38]
Chr19:18279880..18279893 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1808+11G>C single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003650336] Chr19:18168557 [GRCh38]
Chr19:18279367 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.2169GCC[1] (p.Pro725del) microsatellite Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003651253] Chr19:18169274..18169276 [GRCh38]
Chr19:18280084..18280086 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.2133C>G (p.Thr711=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003879437] Chr19:18169240 [GRCh38]
Chr19:18280050 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.747C>T (p.Thr249=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003652701] Chr19:18161427 [GRCh38]
Chr19:18272237 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.598+15T>C single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003649477] Chr19:18161200 [GRCh38]
Chr19:18272010 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.327C>T (p.Leu109=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003650016] Chr19:18160475 [GRCh38]
Chr19:18271285 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.259_263del (p.Gly87fs) microsatellite Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003487095] Chr19:18156128..18156132 [GRCh38]
Chr19:18266938..18266942 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1032C>G (p.Leu344=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003828833] Chr19:18162429 [GRCh38]
Chr19:18273239 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.778C>T (p.Pro260Ser) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003536600] Chr19:18161458 [GRCh38]
Chr19:18272268 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.810C>T (p.Pro270=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003535318] Chr19:18161490 [GRCh38]
Chr19:18272300 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.924G>A (p.Lys308=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003535427] Chr19:18162224 [GRCh38]
Chr19:18273034 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1361A>G (p.Gln454Arg) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003833492] Chr19:18163333 [GRCh38]
Chr19:18274143 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.266G>A (p.Arg89His) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003539154] Chr19:18156145 [GRCh38]
Chr19:18266955 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.329C>G (p.Thr110Arg) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003537681] Chr19:18160477 [GRCh38]
Chr19:18271287 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.174C>T (p.Pro58=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003854647] Chr19:18156053 [GRCh38]
Chr19:18266863 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.777G>A (p.Pro259=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003538249] Chr19:18161457 [GRCh38]
Chr19:18272267 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.565G>A (p.Glu189Lys) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003535268] Chr19:18161152 [GRCh38]
Chr19:18271962 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1026G>C (p.Glu342Asp) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003538305] Chr19:18162423 [GRCh38]
Chr19:18273233 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1002C>G (p.Asp334Glu) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003536194] Chr19:18162302 [GRCh38]
Chr19:18273112 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.783_785dup (p.Ser263_Pro264insSer) duplication Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003816980] Chr19:18161461..18161462 [GRCh38]
Chr19:18272271..18272272 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.500C>T (p.Thr167Met) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003537824] Chr19:18161087 [GRCh38]
Chr19:18271897 [GRCh37]
Chr19:19p13.11		 benign
NM_005027.4(PIK3R2):c.1668C>A (p.Ile556=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003537897] Chr19:18167238 [GRCh38]
Chr19:18278048 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1988_1989delinsAA (p.Gly663Glu) indel Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003538051] Chr19:18169095..18169096 [GRCh38]
Chr19:18279905..18279906 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1010+11G>T single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003536562] Chr19:18162321 [GRCh38]
Chr19:18273131 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.57G>A (p.Arg19=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003536187] Chr19:18155936 [GRCh38]
Chr19:18266746 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1903A>G (p.Met635Val) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003862971] Chr19:18168820 [GRCh38]
Chr19:18279630 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1977G>T (p.Val659=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003862315] Chr19:18168894 [GRCh38]
Chr19:18279704 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.72G>A (p.Glu24=) single nucleotide variant PIK3R2-related condition [RCV003899841] Chr19:18155951 [GRCh38]
Chr19:18266761 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.693C>G (p.Arg231=) single nucleotide variant PIK3R2-related condition [RCV003901613] Chr19:18161373 [GRCh38]
Chr19:18272183 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1416+8A>C single nucleotide variant PIK3R2-related condition [RCV003904482] Chr19:18163396 [GRCh38]
Chr19:18274206 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.2163C>G (p.Pro721=) single nucleotide variant PIK3R2-related condition [RCV003982008] Chr19:18169270 [GRCh38]
Chr19:18280080 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.716T>C (p.Leu239Pro) single nucleotide variant PIK3R2-related condition [RCV003958982] Chr19:18161396 [GRCh38]
Chr19:18272206 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.481G>C (p.Asp161His) single nucleotide variant PIK3R2-related condition [RCV003984525] Chr19:18161068 [GRCh38]
Chr19:18271878 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.618G>C (p.Gly206=) single nucleotide variant PIK3R2-related condition [RCV003949742] Chr19:18161298 [GRCh38]
Chr19:18272108 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.816-6C>G single nucleotide variant PIK3R2-related condition [RCV003894392] Chr19:18161960 [GRCh38]
Chr19:18272770 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.609G>C (p.Gly203=) single nucleotide variant PIK3R2-related condition [RCV003944243] Chr19:18161289 [GRCh38]
Chr19:18272099 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.275G>T (p.Gly92Val) single nucleotide variant PIK3R2-related condition [RCV003897195] Chr19:18156154 [GRCh38]
Chr19:18266964 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.-5C>T single nucleotide variant PIK3R2-related condition [RCV003951368] Chr19:18155875 [GRCh38]
Chr19:18266685 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.711G>A (p.Pro237=) single nucleotide variant PIK3R2-related condition [RCV003896861] Chr19:18161391 [GRCh38]
Chr19:18272201 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.621G>C (p.Pro207=) single nucleotide variant PIK3R2-related condition [RCV003934599] Chr19:18161301 [GRCh38]
Chr19:18272111 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1992C>T (p.Asp664=) single nucleotide variant PIK3R2-related condition [RCV003909605] Chr19:18169099 [GRCh38]
Chr19:18279909 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.606G>C (p.Ala202=) single nucleotide variant PIK3R2-related condition [RCV003946872] Chr19:18161286 [GRCh38]
Chr19:18272096 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.721C>A (p.Pro241Thr) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV000644581] Chr19:18161401 [GRCh38]
Chr19:18272211 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.843G>A (p.Ala281=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003649158]|PIK3R2-related condition [RCV003905983]|not provided [RCV000970165] Chr19:18161993 [GRCh38]
Chr19:18272803 [GRCh37]
Chr19:19p13.11		 benign|likely benign
NM_005027.4(PIK3R2):c.1845G>A (p.Pro615=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002066311]|PIK3R2-related condition [RCV003970740] Chr19:18168762 [GRCh38]
Chr19:18279572 [GRCh37]
Chr19:19p13.11		 benign|likely benign
NM_005027.4(PIK3R2):c.821A>C (p.Glu274Ala) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV001253652] Chr19:18161971 [GRCh38]
Chr19:18272781 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1680G>C (p.Met560Ile) single nucleotide variant not provided [RCV001756310] Chr19:18167250 [GRCh38]
Chr19:18278060 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.496G>C (p.Asp166His) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002290197] Chr19:18161083 [GRCh38]
Chr19:18271893 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.87C>T (p.Asp29=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002903067] Chr19:18155966 [GRCh38]
Chr19:18266776 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1522C>T (p.Arg508Cys) single nucleotide variant Inborn genetic diseases [RCV002698659]|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003534980] Chr19:18166265 [GRCh38]
Chr19:18277075 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1865G>C (p.Trp622Ser) single nucleotide variant Inborn genetic diseases [RCV002849663] Chr19:18168782 [GRCh38]
Chr19:18279592 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.415+8C>T single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003058114] Chr19:18160571 [GRCh38]
Chr19:18271381 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.942A>T (p.Thr314=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV002633679] Chr19:18162242 [GRCh38]
Chr19:18273052 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.338A>C (p.Asp113Ala) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003142678] Chr19:18160486 [GRCh38]
Chr19:18271296 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.688G>A (p.Gly230Ser) single nucleotide variant Inborn genetic diseases [RCV003282074] Chr19:18161368 [GRCh38]
Chr19:18272178 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.816-4_819delinsACTC indel not provided [RCV003321406] Chr19:18161962..18161969 [GRCh38]
Chr19:18272772..18272779 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.193C>T (p.Arg65Trp) single nucleotide variant not provided [RCV003457020] Chr19:18156072 [GRCh38]
Chr19:18266882 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1715A>G (p.Lys572Arg) single nucleotide variant not provided [RCV003415149] Chr19:18167285 [GRCh38]
Chr19:18278095 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.888G>A (p.Glu296=) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003650117] Chr19:18162038 [GRCh38]
Chr19:18272848 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.1480C>T (p.Gln494Ter) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003651153] Chr19:18166223 [GRCh38]
Chr19:18277033 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.103C>T (p.Arg35Trp) single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003539211] Chr19:18155982 [GRCh38]
Chr19:18266792 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005027.4(PIK3R2):c.1809-6C>T single nucleotide variant Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003535219] Chr19:18168720 [GRCh38]
Chr19:18279530 [GRCh37]
Chr19:19p13.11		 likely benign
NM_005027.4(PIK3R2):c.668G>A (p.Arg223His) single nucleotide variant PIK3R2-related condition [RCV003946782] Chr19:18161348 [GRCh38]
Chr19:18272158 [GRCh37]
Chr19:19p13.11		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR126hsa-miR-126-3pMirtarbaseexternal_infoWestern blot//qRT-PCR//Luciferase reporter assayFunctional MTI18663744
MIR126hsa-miR-126-3pOncomiRDBexternal_infoNANA22900072
MIR126hsa-miR-126-3pOncomiRDBexternal_infoNANA18663744
MIR126hsa-miR-126-5pMirecordsexternal_info{unchanged}NA18663744

Predicted Target Of
Summary Value
Count of predictions:2630
Count of miRNA genes:926
Interacting mature miRNAs:1140
Transcripts:ENST00000222254, ENST00000426902, ENST00000459743, ENST00000464016, ENST00000474310, ENST00000600533
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
RH26302  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371918,281,172 - 18,281,316UniSTSGRCh37
GRCh375122,562,049 - 122,562,193UniSTSGRCh37
Build 365122,589,948 - 122,590,092RGDNCBI36
Celera5118,517,555 - 118,517,699RGD
Celera1918,182,914 - 18,183,058UniSTS
Cytogenetic Map19q13.2-q13.4UniSTS
HuRef1917,844,685 - 17,844,829UniSTS
HuRef5117,750,089 - 117,750,233UniSTS
PIK3R2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371918,273,292 - 18,273,947UniSTSGRCh37
Celera1918,175,022 - 18,175,677UniSTS
HuRef1917,836,784 - 17,837,439UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 2184 1861 1318 286 500 124 3474 1394 3301 87 1115 1215 162 982 2310
Low 196 1090 240 187 882 192 814 783 366 171 240 285 1 222 477 2
Below cutoff 50 29 154 138 309 137 66 11 41 155 91 105 8 1 3

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000222254   ⟹   ENSP00000222254
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,153,163 - 18,170,532 (+)Ensembl
RefSeq Acc Id: ENST00000426902   ⟹   ENSP00000395636
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,155,622 - 18,170,073 (+)Ensembl
RefSeq Acc Id: ENST00000459743
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,168,498 - 18,169,152 (+)Ensembl
RefSeq Acc Id: ENST00000464016   ⟹   ENSP00000476825
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,166,276 - 18,169,231 (+)Ensembl
RefSeq Acc Id: ENST00000474310
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,160,867 - 18,161,468 (+)Ensembl
RefSeq Acc Id: ENST00000600533
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,162,046 - 18,162,717 (+)Ensembl
RefSeq Acc Id: ENST00000617130   ⟹   ENSP00000477864
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,153,179 - 18,170,532 (+)Ensembl
RefSeq Acc Id: ENST00000617642   ⟹   ENSP00000484714
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,153,179 - 18,170,507 (+)Ensembl
RefSeq Acc Id: ENST00000672815   ⟹   ENSP00000500792
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,163,145 - 18,168,808 (+)Ensembl
RefSeq Acc Id: ENST00000674682
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,166,035 - 18,167,740 (+)Ensembl
RefSeq Acc Id: ENST00000675271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,162,912 - 18,167,740 (+)Ensembl
RefSeq Acc Id: NM_005027   ⟹   NP_005018
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381918,153,163 - 18,170,532 (+)NCBI
GRCh371918,263,988 - 18,281,343 (+)NCBI
Build 361918,125,016 - 18,142,343 (+)NCBI Archive
HuRef1917,827,466 - 17,844,856 (+)NCBI
CHM1_11918,263,528 - 18,280,901 (+)NCBI
T2T-CHM13v2.01918,287,263 - 18,304,664 (+)NCBI
Sequence:
RefSeq Acc Id: NR_073517
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381918,153,163 - 18,170,532 (+)NCBI
HuRef1917,827,466 - 17,844,856 (+)NCBI
CHM1_11918,263,528 - 18,280,901 (+)NCBI
T2T-CHM13v2.01918,287,263 - 18,304,664 (+)NCBI
Sequence:
RefSeq Acc Id: NR_162071
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381918,153,163 - 18,170,532 (+)NCBI
T2T-CHM13v2.01918,287,263 - 18,304,664 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_005018   ⟸   NM_005027
- UniProtKB: Q5EAT5 (UniProtKB/Swiss-Prot),   O00459 (UniProtKB/Swiss-Prot),   Q9UPH9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000476825   ⟸   ENST00000464016
RefSeq Acc Id: ENSP00000395636   ⟸   ENST00000426902
RefSeq Acc Id: ENSP00000477864   ⟸   ENST00000617130
RefSeq Acc Id: ENSP00000484714   ⟸   ENST00000617642
RefSeq Acc Id: ENSP00000222254   ⟸   ENST00000222254
RefSeq Acc Id: ENSP00000500792   ⟸   ENST00000672815
Protein Domains
PI3K regulatory subunit p85-related inter-SH2   Rho-GAP   SH2   SH3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O00459-F1-model_v2 AlphaFold O00459 1-728 view protein structure

Promoters
RGD ID:6795889
Promoter ID:HG_KWN:29281
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000319292,   OTTHUMT00000319294,   UC002NIB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361918,124,246 - 18,125,367 (+)MPROMDB
RGD ID:6795892
Promoter ID:HG_KWN:29283
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000319295
Position:
Human AssemblyChrPosition (strand)Source
Build 361918,132,876 - 18,133,376 (+)MPROMDB
RGD ID:6811706
Promoter ID:HG_ACW:40484
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   Lymphoblastoid,   NB4
Transcripts:PIK3R2ANDIFI30.JAPR07,   PIK3R2ANDIFI30.LAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361918,132,986 - 18,133,486 (+)MPROMDB
RGD ID:6795895
Promoter ID:HG_KWN:29285
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:OTTHUMT00000319296,   OTTHUMT00000319298
Position:
Human AssemblyChrPosition (strand)Source
Build 361918,139,836 - 18,140,336 (+)MPROMDB
RGD ID:7239091
Promoter ID:EPDNEW_H25291
Type:initiation region
Name:PIK3R2_1
Description:phosphoinositide-3-kinase regulatory subunit 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25293  EPDNEW_H25292  EPDNEW_H25295  EPDNEW_H25294  EPDNEW_H25297  EPDNEW_H25296  EPDNEW_H25298  EPDNEW_H25299  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381918,153,163 - 18,153,223EPDNEW
RGD ID:7239095
Promoter ID:EPDNEW_H25292
Type:initiation region
Name:PIK3R2_5
Description:phosphoinositide-3-kinase regulatory subunit 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25291  EPDNEW_H25293  EPDNEW_H25295  EPDNEW_H25294  EPDNEW_H25297  EPDNEW_H25296  EPDNEW_H25298  EPDNEW_H25299  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381918,155,569 - 18,155,629EPDNEW
RGD ID:7239093
Promoter ID:EPDNEW_H25293
Type:initiation region
Name:PIK3R2_8
Description:phosphoinositide-3-kinase regulatory subunit 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25291  EPDNEW_H25292  EPDNEW_H25295  EPDNEW_H25294  EPDNEW_H25297  EPDNEW_H25296  EPDNEW_H25298  EPDNEW_H25299  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381918,155,874 - 18,155,934EPDNEW
RGD ID:7239099
Promoter ID:EPDNEW_H25294
Type:initiation region
Name:PIK3R2_4
Description:phosphoinositide-3-kinase regulatory subunit 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25291  EPDNEW_H25293  EPDNEW_H25292  EPDNEW_H25295  EPDNEW_H25297  EPDNEW_H25296  EPDNEW_H25298  EPDNEW_H25299  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381918,160,854 - 18,160,914EPDNEW
RGD ID:7239097
Promoter ID:EPDNEW_H25295
Type:initiation region
Name:PIK3R2_2
Description:phosphoinositide-3-kinase regulatory subunit 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25291  EPDNEW_H25293  EPDNEW_H25292  EPDNEW_H25294  EPDNEW_H25297  EPDNEW_H25296  EPDNEW_H25298  EPDNEW_H25299  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381918,161,463 - 18,161,523EPDNEW
RGD ID:7239103
Promoter ID:EPDNEW_H25296
Type:initiation region
Name:PIK3R2_7
Description:phosphoinositide-3-kinase regulatory subunit 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25291  EPDNEW_H25293  EPDNEW_H25292  EPDNEW_H25295  EPDNEW_H25294  EPDNEW_H25297  EPDNEW_H25298  EPDNEW_H25299  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381918,162,975 - 18,163,035EPDNEW
RGD ID:7239101
Promoter ID:EPDNEW_H25297
Type:initiation region
Name:PIK3R2_6
Description:phosphoinositide-3-kinase regulatory subunit 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25291  EPDNEW_H25293  EPDNEW_H25292  EPDNEW_H25295  EPDNEW_H25294  EPDNEW_H25296  EPDNEW_H25298  EPDNEW_H25299  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381918,168,391 - 18,168,451EPDNEW
RGD ID:7239105
Promoter ID:EPDNEW_H25298
Type:initiation region
Name:PIK3R2_3
Description:phosphoinositide-3-kinase regulatory subunit 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25291  EPDNEW_H25293  EPDNEW_H25292  EPDNEW_H25295  EPDNEW_H25294  EPDNEW_H25297  EPDNEW_H25296  EPDNEW_H25299  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381918,169,325 - 18,169,385EPDNEW
RGD ID:7239107
Promoter ID:EPDNEW_H25299
Type:initiation region
Name:PIK3R2_9
Description:phosphoinositide-3-kinase regulatory subunit 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25291  EPDNEW_H25293  EPDNEW_H25292  EPDNEW_H25295  EPDNEW_H25294  EPDNEW_H25297  EPDNEW_H25296  EPDNEW_H25298  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381918,169,684 - 18,169,744EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8980 AgrOrtholog
COSMIC PIK3R2 COSMIC
Ensembl Genes ENSG00000105647 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000222254 ENTREZGENE
  ENST00000222254.13 UniProtKB/Swiss-Prot
  ENST00000426902 ENTREZGENE
  ENST00000426902.5 UniProtKB/TrEMBL
  ENST00000464016.3 UniProtKB/TrEMBL
  ENST00000617130 ENTREZGENE
  ENST00000617130.5 UniProtKB/TrEMBL
  ENST00000617642.2 UniProtKB/TrEMBL
  ENST00000672815.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.287.1490 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.10.555.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.505.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 Domains UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000105647 GTEx
HGNC ID HGNC:8980 ENTREZGENE
Human Proteome Map PIK3R2 Human Proteome Map
InterPro PI3K_P85_iSH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PI3K_p85beta_SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PI3kinase_P85_cSH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PI3kinase_P85_nSH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rho_GTPase_activation_prot UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhoGAP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5296 UniProtKB/Swiss-Prot
NCBI Gene 5296 ENTREZGENE
OMIM 603157 OMIM
PANTHER PHOSPHATIDYLINOSITOL 3-KINASE REGULATORY SUBUNIT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PHOSPHATIDYLINOSITOL 3-KINASE REGULATORY SUBUNIT BETA UniProtKB/TrEMBL
  PI3K21B, ISOFORM B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PI3K_P85_iSH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhoGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33313 PharmGKB
PRINTS PI3KINASEP85 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE RHOGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RhoGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50044 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55550 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087X257_HUMAN UniProtKB/TrEMBL
  A0A5F9ZHY3_HUMAN UniProtKB/TrEMBL
  A0A7I2U3A3_HUMAN UniProtKB/TrEMBL
  E9PFP1_HUMAN UniProtKB/TrEMBL
  O00459 ENTREZGENE, UniProtKB/Swiss-Prot
  Q05BV6_HUMAN UniProtKB/TrEMBL
  Q5EAT5 ENTREZGENE
  Q96CK7_HUMAN UniProtKB/TrEMBL
  Q96EV4_HUMAN UniProtKB/TrEMBL
  Q9UPH9 ENTREZGENE
  V9GYJ4_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q5EAT5 UniProtKB/Swiss-Prot
  Q9UPH9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 PIK3R2  phosphoinositide-3-kinase regulatory subunit 2    phosphoinositide-3-kinase, regulatory subunit 2 (beta)  Symbol and/or name change 5135510 APPROVED