ClinVar Miner

List of variants in gene ENG reported as uncertain significance for capillary malformation

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 191
Download table as spreadsheet
HGVS dbSNP
NC_000009.12:g.(?_127819612)_(127820047_?)dup
NM_000118.3(ENG):c.*134G>A rs745843047
NM_000118.3(ENG):c.*26G>C rs371104611
NM_000118.3(ENG):c.*385C>A rs886063475
NM_000118.3(ENG):c.*487C>A rs886063474
NM_000118.3(ENG):c.*501G>A rs764451017
NM_000118.3(ENG):c.*508A>C rs138178682
NM_000118.3(ENG):c.-188G>A rs961480381
NM_000118.3(ENG):c.-246T>C rs886063478
NM_000118.3(ENG):c.-289A>C rs538284289
NM_000118.3(ENG):c.-338G>A rs534779092
NM_000118.3(ENG):c.-339C>T rs554349374
NM_000118.3(ENG):c.-364G>A
NM_000118.3(ENG):c.-395C>A rs886063479
NM_000118.3(ENG):c.-63C>T rs886063476
NM_000118.3(ENG):c.-70del rs886063477
NM_000118.3(ENG):c.-9G>A rs368423516
NM_000118.3(ENG):c.1015G>A (p.Ala339Thr) rs761463410
NM_000118.3(ENG):c.1036C>T (p.Pro346Ser) rs1554810062
NM_000118.3(ENG):c.1055C>T (p.Pro352Leu) rs1356571461
NM_000118.3(ENG):c.1067T>A (p.Met356Lys) rs138190783
NM_000118.3(ENG):c.1098C>T (p.Asp366=) rs201497772
NM_000118.3(ENG):c.1110G>A (p.Leu370=) rs1588580725
NM_000118.3(ENG):c.111C>T (p.Pro37=) rs755626994
NM_000118.3(ENG):c.112G>A (p.Glu38Lys) rs747481834
NM_000118.3(ENG):c.1133C>T (p.Ala378Val) rs143054595
NM_000118.3(ENG):c.121G>A (p.Glu41Lys) rs199675436
NM_000118.3(ENG):c.130T>G (p.Tyr44Asp) rs1554812271
NM_000118.3(ENG):c.137C>T (p.Thr46Ile) rs1393437924
NM_000118.3(ENG):c.1758C>T (p.Gly586=) rs150566847
NM_000118.3(ENG):c.1762G>A (p.Val588Ile) rs201768056
NM_000118.3(ENG):c.1780G>A (p.Gly594Ser) rs1060501409
NM_000118.3(ENG):c.1806C>T (p.Ile602=) rs373002544
NM_000118.3(ENG):c.1844C>G (p.Ser615Trp) rs148002300
NM_000118.3(ENG):c.1850C>T (p.Thr617Met) rs201031046
NM_000118.3(ENG):c.185T>A (p.Leu62His) rs1060501424
NM_000118.3(ENG):c.1873C>G (p.Gln625Glu) rs147188969
NM_000118.3(ENG):c.217A>G (p.Thr73Ala) rs1472137141
NM_000118.3(ENG):c.219+23G>A rs200726108
NM_000118.3(ENG):c.219+3G>A rs1419279746
NM_000118.3(ENG):c.220-6C>A rs756342212
NM_000118.3(ENG):c.310A>G (p.Ser104Gly) rs757343854
NM_000118.3(ENG):c.321G>T (p.Leu107=) rs767907933
NM_000118.3(ENG):c.322C>T (p.His108Tyr) rs756897517
NM_000118.3(ENG):c.350A>C (p.His117Pro) rs1588585799
NM_000118.3(ENG):c.360+5G>A rs1060501417
NM_000118.3(ENG):c.360C>T (p.Tyr120=) rs121918402
NM_000118.3(ENG):c.361-12_361-11del rs781079790
NM_000118.3(ENG):c.396_397delinsAA (p.Val133Ile) rs1554810507
NM_000118.3(ENG):c.405C>G (p.Thr135=) rs773521685
NM_000118.3(ENG):c.498G>C (p.Gln166His) rs1167818567
NM_000118.3(ENG):c.534_536del (p.Leu179del) rs1285249384
NM_000118.3(ENG):c.539C>T (p.Ser180Phe) rs375025857
NM_000118.3(ENG):c.565G>T (p.Asp189Tyr) rs147792018
NM_000118.3(ENG):c.575G>A (p.Arg192His) rs1029569378
NM_000118.3(ENG):c.578C>T (p.Thr193Met) rs775442178
NM_000118.3(ENG):c.583G>C (p.Glu195Gln) rs1255912441
NM_000118.3(ENG):c.589C>T (p.Arg197Trp) rs780987528
NM_000118.3(ENG):c.593C>T (p.Pro198Leu) rs777633247
NM_000118.3(ENG):c.614G>A (p.Arg205Gln) rs751778614
NM_000118.3(ENG):c.617G>C (p.Gly206Ala) rs201393380
NM_000118.3(ENG):c.633C>T (p.Gly211=) rs928192105
NM_000118.3(ENG):c.634G>A (p.Val212Met) rs370652082
NM_000118.3(ENG):c.640G>A (p.Gly214Ser) rs150932144
NM_000118.3(ENG):c.673C>G (p.Pro225Ala) rs1554810373
NM_000118.3(ENG):c.675G>A (p.Pro225=) rs757608428
NM_000118.3(ENG):c.68-4A>G rs1564462843
NM_000118.3(ENG):c.680A>G (p.His227Arg) rs377548944
NM_000118.3(ENG):c.686C>A (p.Ala229Asp) rs971190119
NM_000118.3(ENG):c.694C>T (p.Arg232Trp) rs200372420
NM_000118.3(ENG):c.698C>T (p.Thr233Met) rs139767471
NM_000118.3(ENG):c.713T>A (p.Val238Glu) rs1060501415
NM_000118.3(ENG):c.722G>A (p.Ser241Asn) rs1060501411
NM_000118.3(ENG):c.727G>A (p.Ala243Thr) rs761827492
NM_000118.3(ENG):c.733G>A (p.Gly245Arg) rs762569294
NM_000118.3(ENG):c.742G>A (p.Asp248Asn) rs775160533
NM_000118.3(ENG):c.754A>T (p.Ile252Phe) rs377377549
NM_000118.3(ENG):c.782G>T (p.Trp261Leu) rs1060501420
NM_000118.3(ENG):c.799_804del (p.His267_Asn268del) rs1588581812
NM_000118.3(ENG):c.7C>G (p.Arg3Gly) rs139334561
NM_000118.3(ENG):c.7C>T (p.Arg3Cys) rs139334561
NM_000118.3(ENG):c.805A>G (p.Met269Val) rs1323617205
NM_000118.3(ENG):c.806T>C (p.Met269Thr) rs752331196
NM_000118.3(ENG):c.839A>G (p.Lys280Arg) rs774709924
NM_000118.3(ENG):c.850G>A (p.Glu284Lys) rs372045549
NM_000118.3(ENG):c.863G>A (p.Arg288His) rs770328302
NM_000118.3(ENG):c.884C>T (p.Thr295Ile) rs12042
NM_000118.3(ENG):c.88T>A (p.Cys30Ser) rs1564462834
NM_000118.3(ENG):c.900G>A (p.Leu300=) rs140155568
NM_000118.3(ENG):c.911G>A (p.Arg304Gln) rs753429934
NM_000118.3(ENG):c.990C>T (p.Cys330=) rs369202854
NM_001114753.3(ENG):c.*109C>T
NM_001114753.3(ENG):c.*391G>A
NM_001114753.3(ENG):c.*424G>C
NM_001114753.3(ENG):c.*438G>A
NM_001114753.3(ENG):c.*4C>T
NM_001114753.3(ENG):c.*530T>A
NM_001114753.3(ENG):c.*533G>A
NM_001114753.3(ENG):c.*534C>T
NM_001114753.3(ENG):c.*586C>T
NM_001114753.3(ENG):c.-227C>G
NM_001114753.3(ENG):c.-23G>A
NM_001114753.3(ENG):c.-249C>A
NM_001114753.3(ENG):c.-59C>T
NM_001114753.3(ENG):c.-90G>C
NM_001114753.3(ENG):c.1026G>T (p.Gln342His)
NM_001114753.3(ENG):c.1027A>G (p.Thr343Ala)
NM_001114753.3(ENG):c.1029_1030delinsTC (p.Thr344Pro)
NM_001114753.3(ENG):c.1063C>T (p.Leu355Phe)
NM_001114753.3(ENG):c.1067T>C (p.Met356Thr)
NM_001114753.3(ENG):c.1093G>A (p.Asp365Asn)
NM_001114753.3(ENG):c.1109T>A (p.Leu370Gln)
NM_001114753.3(ENG):c.1110_1115dup (p.Val371_Leu372dup)
NM_001114753.3(ENG):c.116G>A (p.Arg39Lys)
NM_001114753.3(ENG):c.118G>T (p.Gly40Cys)
NM_001114753.3(ENG):c.149C>T (p.Ser50Leu)
NM_001114753.3(ENG):c.160G>A (p.Val54Met)
NM_001114753.3(ENG):c.1744T>G (p.Cys582Gly)
NM_001114753.3(ENG):c.1759C>T (p.Leu587Phe)
NM_001114753.3(ENG):c.1771G>A (p.Ala591Thr)
NM_001114753.3(ENG):c.1774G>A (p.Val592Met)
NM_001114753.3(ENG):c.1786A>G (p.Thr596Ala)
NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg)
NM_001114753.3(ENG):c.1852+42C>T
NM_001114753.3(ENG):c.1852+51C>G
NM_001114753.3(ENG):c.1853-18C>T
NM_001114753.3(ENG):c.1853-9C>T
NM_001114753.3(ENG):c.194A>G (p.His65Arg)
NM_001114753.3(ENG):c.214C>T (p.Pro72Ser)
NM_001114753.3(ENG):c.219+22C>T rs370257876
NM_001114753.3(ENG):c.219+5G>T
NM_001114753.3(ENG):c.219G>T (p.Thr73=)
NM_001114753.3(ENG):c.223C>T (p.Pro75Ser)
NM_001114753.3(ENG):c.239T>C (p.Leu80Pro)
NM_001114753.3(ENG):c.242C>A (p.Thr81Asn)
NM_001114753.3(ENG):c.278G>A (p.Arg93Gln)
NM_001114753.3(ENG):c.293T>A (p.Val98Asp)
NM_001114753.3(ENG):c.320_328del (p.Leu107_Leu109del)
NM_001114753.3(ENG):c.321_322delinsTT (p.His108Tyr) rs1060501425
NM_001114753.3(ENG):c.332C>T (p.Ala111Val)
NM_001114753.3(ENG):c.343C>T (p.Pro115Ser)
NM_001114753.3(ENG):c.354G>A (p.Leu118=)
NM_001114753.3(ENG):c.35T>C (p.Leu12Pro)
NM_001114753.3(ENG):c.373G>C (p.Val125Leu)
NM_001114753.3(ENG):c.374T>C (p.Val125Ala) rs750115837
NM_001114753.3(ENG):c.413T>C (p.Leu138Pro)
NM_001114753.3(ENG):c.442G>C (p.Glu148Gln)
NM_001114753.3(ENG):c.470C>T (p.Thr157Ile)
NM_001114753.3(ENG):c.497A>C (p.Gln166Pro)
NM_001114753.3(ENG):c.530G>A (p.Gly177Glu)
NM_001114753.3(ENG):c.547A>G (p.Met183Val)
NM_001114753.3(ENG):c.556G>A (p.Ala186Thr)
NM_001114753.3(ENG):c.565G>A (p.Asp189Asn)
NM_001114753.3(ENG):c.569T>A (p.Met190Lys)
NM_001114753.3(ENG):c.586T>A (p.Trp196Arg)
NM_001114753.3(ENG):c.590G>A (p.Arg197Gln)
NM_001114753.3(ENG):c.596G>A (p.Arg199His) rs548424658
NM_001114753.3(ENG):c.613C>T (p.Arg205Trp)
NM_001114753.3(ENG):c.627G>C (p.Leu209Phe)
NM_001114753.3(ENG):c.653C>T (p.Ala218Val)
NM_001114753.3(ENG):c.668_685del (p.Val223_Ser228del)
NM_001114753.3(ENG):c.674C>T (p.Pro225Leu)
NM_001114753.3(ENG):c.682T>A (p.Ser228Thr)
NM_001114753.3(ENG):c.688G>A (p.Gly230Arg)
NM_001114753.3(ENG):c.68G>C (p.Ser23Thr)
NM_001114753.3(ENG):c.695G>A (p.Arg232Gln)
NM_001114753.3(ENG):c.695G>T (p.Arg232Leu)
NM_001114753.3(ENG):c.698CGGTGA[1] (p.233TV[1]) rs1588582060
NM_001114753.3(ENG):c.704C>A (p.Thr235Lys)
NM_001114753.3(ENG):c.704C>T (p.Thr235Met)
NM_001114753.3(ENG):c.707T>A (p.Val236Glu)
NM_001114753.3(ENG):c.748G>A (p.Val250Ile)
NM_001114753.3(ENG):c.755T>C (p.Ile252Thr)
NM_001114753.3(ENG):c.766C>T (p.Pro256Ser)
NM_001114753.3(ENG):c.776T>G (p.Val259Gly)
NM_001114753.3(ENG):c.818C>T (p.Thr273Ile) rs727503038
NM_001114753.3(ENG):c.820A>G (p.Thr274Ala)
NM_001114753.3(ENG):c.821C>T (p.Thr274Ile)
NM_001114753.3(ENG):c.829T>C (p.Tyr277His)
NM_001114753.3(ENG):c.841A>G (p.Ile281Val)
NM_001114753.3(ENG):c.866G>A (p.Gly289Asp)
NM_001114753.3(ENG):c.889C>G (p.Gln297Glu)
NM_001114753.3(ENG):c.901G>C (p.Gly301Arg)
NM_001114753.3(ENG):c.910C>T (p.Arg304Trp)
NM_001114753.3(ENG):c.91G>A (p.Asp31Asn)
NM_001114753.3(ENG):c.923_925dup (p.Ser309_Ile310insThr)
NM_001114753.3(ENG):c.951_956del (p.Pro318_Leu319del)
NM_001114753.3(ENG):c.953C>G (p.Pro318Arg)
NM_001114753.3(ENG):c.970T>C (p.Ser324Pro)
NM_001114753.3(ENG):c.992-3C>T
NM_001114753.3(ENG):c.9C>T (p.Arg3=)

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.