ClinVar Miner

List of variants studied for complex vascular malformation with associated anomalies

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 78
Download table as spreadsheet
HGVS dbSNP
NM_000314.7(PTEN):c.152_160dup (p.Asp51_Val53dup) rs1564814602
NM_000314.7(PTEN):c.860C>G (p.Ser287Ter) rs863224909
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) rs371387815
NM_002067.5(GNA11):c.547C>T (p.Arg183Cys) rs1555702147
NM_002072.5(GNAQ):c.548G>A (p.Arg183Gln) rs397514698
NM_002890.3(RASA1):c.*1000_*1004GTTAA[1] rs886060850
NM_002890.3(RASA1):c.*16T>C rs770822619
NM_002890.3(RASA1):c.*298T>C rs886060846
NM_002890.3(RASA1):c.*375T>C rs116868431
NM_002890.3(RASA1):c.*424G>A rs191725379
NM_002890.3(RASA1):c.*424G>T rs191725379
NM_002890.3(RASA1):c.*448T>G rs886060847
NM_002890.3(RASA1):c.*476T>G rs543819845
NM_002890.3(RASA1):c.*543A>G rs183575968
NM_002890.3(RASA1):c.*572C>A rs886060848
NM_002890.3(RASA1):c.*733_*735ATT[1] rs374889193
NM_002890.3(RASA1):c.*818T>C rs192141756
NM_002890.3(RASA1):c.*840_*842ATT[1] rs201705926
NM_002890.3(RASA1):c.*852A>G rs182603054
NM_002890.3(RASA1):c.*97A>G rs115086172
NM_002890.3(RASA1):c.*9G>A rs886060845
NM_002890.3(RASA1):c.-128_-126GTT[2] rs371042291
NM_002890.3(RASA1):c.-179A>C rs886060838
NM_002890.3(RASA1):c.-198G>T rs149279711
NM_002890.3(RASA1):c.1102+10T>C rs150779406
NM_002890.3(RASA1):c.1305T>C (p.Tyr435=) rs778801311
NM_002890.3(RASA1):c.1371G>A (p.Lys457=) rs140707293
NM_002890.3(RASA1):c.1394G>A (p.Arg465His) rs181630831
NM_002890.3(RASA1):c.1494G>A (p.Glu498=) rs200197533
NM_002890.3(RASA1):c.1583A>G (p.Tyr528Cys) rs145752649
NM_002890.3(RASA1):c.1777-14T>A rs36000817
NM_002890.3(RASA1):c.1777-15_1777-14insA rs202147617
NM_002890.3(RASA1):c.1980_1981dup (p.Lys661fs)
NM_002890.3(RASA1):c.2011+4A>C rs886060840
NM_002890.3(RASA1):c.2049G>C (p.Gly683=) rs886060841
NM_002890.3(RASA1):c.209A>G (p.Glu70Gly) rs146525982
NM_002890.3(RASA1):c.224G>C (p.Gly75Ala) rs200002693
NM_002890.3(RASA1):c.2259C>T (p.Ala753=) rs552498036
NM_002890.3(RASA1):c.2487+11A>C rs886060842
NM_002890.3(RASA1):c.248G>A (p.Gly83Glu) rs755788420
NM_002890.3(RASA1):c.2528C>A (p.Thr843Asn) rs184201084
NM_002890.3(RASA1):c.2603C>T (p.Pro868Leu) rs138785106
NM_002890.3(RASA1):c.2608T>C (p.Leu870=) rs372498033
NM_002890.3(RASA1):c.260C>G (p.Thr87Arg) rs553059467
NM_002890.3(RASA1):c.2691-11C>T rs149730288
NM_002890.3(RASA1):c.2926-14C>T rs886060843
NM_002890.3(RASA1):c.296C>T (p.Ala99Val) rs111840875
NM_002890.3(RASA1):c.3029G>A (p.Arg1010Gln) rs886060844
NM_002890.3(RASA1):c.351C>T (p.Thr117=) rs763970609
NM_002890.3(RASA1):c.360C>A (p.Pro120=) rs137878395
NM_002890.3(RASA1):c.407C>T (p.Pro136Leu) rs769463654
NM_002890.3(RASA1):c.543G>A (p.Trp181Ter)
NM_002890.3(RASA1):c.612T>C (p.Tyr204=) rs377014568
NM_002890.3(RASA1):c.768C>A (p.Tyr256Ter)
NM_002890.3(RASA1):c.829-12T>A rs187379673
NM_002890.3(RASA1):c.899+8A>G rs781285667
NM_005163.2(AKT1):c.49G>A (p.Glu17Lys) rs121434592
NM_005163.2(AKT1):c.49_50delinsAG (p.Glu17Arg) rs1595251483
NM_006218.4(PIK3CA):c.1130C>G (p.Pro377Arg) rs113613074
NM_006218.4(PIK3CA):c.1132T>C (p.Cys378Arg)
NM_006218.4(PIK3CA):c.1252G>A (p.Glu418Lys) rs397517199
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) rs121913272
NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys) rs1057519925
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) rs121913273
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys) rs1057519929
NM_006218.4(PIK3CA):c.248T>C (p.Phe83Ser) rs1560137208
NM_006218.4(PIK3CA):c.2816A>G (p.Asp939Gly)
NM_006218.4(PIK3CA):c.3073A>G (p.Thr1025Ala) rs397517202
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
NM_006218.4(PIK3CA):c.317G>T (p.Gly106Val) rs1057519930
NM_006218.4(PIK3CA):c.436G>A (p.Val146Ile) rs755969956
NM_006218.4(PIK3CA):c.461G>A (p.Arg154Lys)
PIK3CA, ARG115PRO

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.