Full data view for gene PPP2R1A

Information The variants shown are described using the NM_014225.5 transcript reference sequence.

39 entries on 1 page. Showing entries 1 - 39.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.13G>A r.(?) p.(Asp5Asn) Unknown - likely benign g.52693362G>A - PPP2R1A(NM_014225.5):c.13G>A (p.(Asp5Asn)) - PPP2R1A_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.43G>C r.(?) p.(Val15Leu) Unknown - likely benign g.52693392G>C - PPP2R1A(NM_014225.5):c.43G>C (p.(Val15Leu)) - PPP2R1A_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.62G>A r.(?) p.(Arg21His) Unknown - VUS g.52693411G>A - PPP2R1A(NM_014225.5):c.62G>A (p.R21H) - PPP2R1A_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.78+1G>T r.spl? p.? Unknown - VUS g.52693428G>T - PPP2R1A(NM_014225.6):c.78+1G>T - PPP2R1A_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.170-309T>C r.(=) p.(=) Unknown - likely benign g.52708907T>C - PPP2R1A(NM_014225.6):c.170-309T>C - PPP2R1A_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.190G>A r.(?) p.(Glu64Lys) Unknown ACMG likely pathogenic (dominant) g.52709236G>A - - - PPP2R1A_000014 ACMG PM1,PM2, PP3,PP1 PubMed: Anazi 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES ID 15DG2336 PubMed: Anazi 2017 familial M - - - - - - - 1 Johan den Dunnen
-?/. - c.232A>C r.(?) p.(Thr78Pro) Unknown - likely benign g.52709278A>C - PPP2R1A(NM_014225.5):c.232A>C (p.(Thr78Pro)) - PPP2R1A_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.259C>T r.(?) p.(His87Tyr) Unknown - likely benign g.52709305C>T - PPP2R1A(NM_014225.5):c.259C>T (p.H87Y) - PPP2R1A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.430C>T r.(?) p.(Arg144Cys) Unknown - likely pathogenic g.52714672C>T g.52211419C>T - - PPP2R1A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.524C>G r.(?) p.(Ser175Ter) Unknown - likely pathogenic g.52715959C>G - - - PPP2R1A_000028 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
./. - c.536C>T r.(?) p.(Pro179Leu) Unknown - pathogenic g.52715971C>T g.52212718C>T - - PPP2R1A_000002 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+?/. - c.536C>T r.(?) p.(Pro179Leu) Unknown - likely pathogenic (dominant) g.52715971C>T g.52212718C>T - - PPP2R1A_000002 - PubMed: Houge 2015 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES ID Pat12 PubMed: Houge 2015 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
./. - c.544C>T r.(?) p.(Arg182Trp) Unknown - pathogenic g.52715979C>T g.52212726C>T - - PPP2R1A_000001 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
./. - c.544C>T r.(?) p.(Arg182Trp) Unknown - pathogenic g.52715979C>T g.52212726C>T - - PPP2R1A_000001 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+/. - c.544C>T r.(?) p.(Arg182Trp) Unknown - pathogenic g.52715979C>T g.52212726C>T PPP2R1A(NM_014225.5):c.544C>T (p.R182W) - PPP2R1A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.544C>T r.(?) p.(Arg182Trp) Unknown - likely pathogenic (dominant) g.52715979C>T g.52212726C>T - - PPP2R1A_000001 - PubMed: Houge 2015 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES ID Pat13 PubMed: Houge 2015 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.544C>T r.(?) p.(Arg182Trp) Unknown - likely pathogenic (dominant) g.52715979C>T g.52212726C>T - - PPP2R1A_000001 - PubMed: Houge 2015 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES ID Pat14 PubMed: Houge 2015 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.544C>T r.(?) p.(Arg182Trp) Unknown - likely pathogenic (dominant) g.52715979C>T g.52212726C>T - - PPP2R1A_000001 - PubMed: Houge 2015 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES ID Pat15 PubMed: Houge 2015 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.548G>A r.(?) p.(Arg183Gln) Unknown - likely pathogenic g.52715983G>A - PPP2R1A(NM_001363656.2):c.11G>A (p.R4Q) - PPP2R1A_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.655T>C r.(?) p.(Ser219Pro) Unknown - VUS g.52716211T>C - - - PPP2R1A_000015 - - - - De novo - - - - - DNA SEQ-NG - WES ID 183P - - F no Spain - - - - - 1 Alejandro Brea-Fernández
+?/. - c.656C>T r.(?) p.(Ser219Leu) Unknown - likely pathogenic g.52716212C>T - - - PPP2R1A_000020 - - - rs1555791268 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.656C>T r.(?) p.(Ser219Leu) Unknown - likely pathogenic g.52716212C>T - - - PPP2R1A_000020 - - - rs1555791268 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.656C>T r.(?) p.(Ser219Leu) Unknown - likely pathogenic (dominant) g.52716212C>T - NM_014225:c.C656T (S219L) - PPP2R1A_000020 - PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS DEE HSJ0692 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures 1 Johan den Dunnen
+?/. 6 c.656C>T r.(?) p.(Ser219Leu) Unknown - likely pathogenic (dominant) g.52716212C>T g.52212959C>T - - PPP2R1A_000020 - PubMed: Nambot 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? PED2709.1 PubMed: Nambot 2018 - - - France - - - - - 1 Johan den Dunnen
?/. - c.658G>A r.(?) p.(Val220Met) Unknown - VUS g.52716214G>A g.52212961G>A PPP2R1A(NM_001363656.1):c.121G>A (p.V41M) - PPP2R1A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.658G>A r.(?) p.(Val220Met) Unknown - VUS g.52716214G>A g.52212961G>A PPP2R1A(NM_001363656.1):c.121G>A (p.V41M) - PPP2R1A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.658G>C r.(?) p.(Val220Leu) Unknown - VUS g.52716214G>C g.52212961G>C PPP2R1A(NM_014225.5):c.658G>C (p.V220L) - PPP2R1A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.661C>T r.(?) p.(Arg221Trp) Unknown - likely pathogenic g.52716217C>T - PPP2R1A(NM_001363656.2):c.124C>T (p.R42W) - PPP2R1A_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.697C>G r.(?) p.(Gln233Glu) Unknown - VUS g.52716253C>G - PPP2R1A(NM_001363656.1):c.160C>G (p.Q54E), PPP2R1A(NM_014225.5):c.697C>G (p.Q233E) - PPP2R1A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.731T>C r.(?) p.(Val244Ala) Unknown - likely benign g.52716287T>C g.52213034T>C PPP2R1A(NM_014225.5):c.731T>C (p.(Val244Ala)) - PPP2R1A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.773G>A r.(?) p.(Arg258His) Unknown - pathogenic g.52716329G>A g.52213076G>A PPP2R1A(NM_014225.5):c.773G>A (p.(Arg258His), p.R258H) - PPP2R1A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.773G>A r.(?) p.(Arg258His) Unknown - VUS g.52716329G>A g.52213076G>A PPP2R1A(NM_014225.5):c.773G>A (p.(Arg258His), p.R258H) - PPP2R1A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.773G>A r.(?) p.(Arg258His) Unknown - likely pathogenic (dominant) g.52716329G>A g.52213076G>A - - PPP2R1A_000003 - PubMed: Houge 2015 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES ID Pat16 PubMed: Houge 2015 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
-?/. - c.866A>T r.(?) p.(Asn289Ile) Unknown - likely benign g.52719090A>T g.52215837A>T PPP2R1A(NM_014225.5):c.866A>T (p.(Asn289Ile)) - PPP2R1A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.941C>T r.(?) p.(Ser314Leu) Unknown - VUS g.52719275C>T - - - PPP2R1A_000029 - - - rs1978547580 Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1142G>A r.(?) p.(Arg381Gln) Unknown - VUS g.52722957G>A g.52219704G>A - - PPP2R1A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1502C>G r.(?) p.(Thr501Arg) Unknown - VUS g.52724370C>G - PPP2R1A(NM_014225.5):c.1502C>G (p.(Thr501Arg)) - PPP2R1A_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1662-9G>A r.(=) p.(=) Unknown - likely benign g.52728961G>A - PPP2R1A(NM_014225.6):c.1662-9G>A - PPP2R1A_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1688T>C r.(?) p.(Ile563Thr) Unknown - VUS g.52728996T>C g.52225743T>C - - PPP2R1A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.